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1
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Moscarello T, Higgs E, Pollard E, Monroe M, Nguyen TMP, Campion M, Reuter CM. Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method. J Genet Couns 2025; 34:e1998. [PMID: 39535335 DOI: 10.1002/jgc4.1998] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2024] [Revised: 10/22/2024] [Accepted: 10/23/2024] [Indexed: 11/16/2024]
Abstract
The process of identifying and responding to patients' social, emotional, and psychological concerns is a required skill for training and practicing genetic counselors. Patients' health outcomes are improved when genetic counselors attend to these "psychosocial" concerns. Still, the process of eliciting, assessing, and attending to patients' psychosocial concerns in the genetic counseling setting is not well defined in the literature nor is it performed consistently. Tools that do exist are often questionnaire-based, designed for research use, or occur outside of a genetic counseling appointment. Here we describe the complexities of defining "psychosocial assessment" in genetic counseling, its impact on patient outcomes, and summarize existing tools for psychosocial assessment. We identify a need for evidenced-based, verbally-administered psychosocial assessment tools in genetic counseling and explore the value of adapting an existing tool from primary care (the BATHE method) to genetic counseling. The BATHE method is a semi-structured psychosocial assessment tool that can be performed quickly within a patient appointment to gather context, emotional impact, the patient's primary concern, and coping strategies. Through our professional experiences we believe it is a beneficial psychosocial assessment tool as perceived by both patients and genetic counselors. Further work is needed to determine if the BATHE method could fill a gap in how genetic counselors conduct a psychosocial assessment.
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Affiliation(s)
- Tia Moscarello
- Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, California, USA
| | - Emily Higgs
- Cardiovascular Genetics Program, University of California, San Francisco, California, USA
| | - Elizabeth Pollard
- Department of Genetics, Stanford University School of Medicine, Stanford, California, USA
| | - Mattie Monroe
- Department of Genetics, Stanford University School of Medicine, Stanford, California, USA
| | - Thuy-Mi P Nguyen
- Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
| | - MaryAnn Campion
- Department of Genetics, Stanford University School of Medicine, Stanford, California, USA
| | - Chloe M Reuter
- Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, California, USA
- Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA
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2
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Abad PJB, Shah LL, Daack-Hirsch S. Family Information Management in the Context of Inherited Conditions: An Integrative Review. JOURNAL OF FAMILY NURSING 2024; 30:232-254. [PMID: 39194163 DOI: 10.1177/10748407241272196] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 08/29/2024]
Abstract
This review aimed to develop a framework to understand the process of information management in families with inherited conditions. Electronic databases were searched for relevant peer-reviewed articles. Articles were included if they were original research on families affected by any confirmed inherited condition, described how a family accesses, interprets, conveys, and/or uses information about the disease, included the recruitment of more than one family member, and used family as the unit of analysis. Data were analyzed through directed content analysis. Thirty-four articles from 27 studies were analyzed. We propose a framework for family information management consisting of the following domains: contextual influences, family information management behaviors, and family information management outcomes. This proposed framework expands the understanding of how families manage their genetic information in making health care decisions for their affected and at-risk relatives.
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Affiliation(s)
- Peter James B Abad
- The University of Iowa, USA
- University of the Philippines Manila, Philippines
| | - Lisa L Shah
- Virginia Commonwealth University, Richmond, USA
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3
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Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 2024; 83:2324-2405. [PMID: 38727647 DOI: 10.1016/j.jacc.2024.02.014] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 05/20/2024]
Abstract
AIM The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline. Additional relevant studies, published through May 23, 2023, during the guideline writing process, were also considered by the writing committee and added to the evidence tables, where appropriate. STRUCTURE Hypertrophic cardiomyopathy remains a common genetic heart disease reported in populations globally. Recommendations from the "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy" have been updated with new evidence to guide clinicians.
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4
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Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation 2024; 149:e1239-e1311. [PMID: 38718139 DOI: 10.1161/cir.0000000000001250] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 06/05/2024]
Abstract
AIM The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline. Additional relevant studies, published through May 23, 2023, during the guideline writing process, were also considered by the writing committee and added to the evidence tables, where appropriate. STRUCTURE Hypertrophic cardiomyopathy remains a common genetic heart disease reported in populations globally. Recommendations from the "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy" have been updated with new evidence to guide clinicians.
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Affiliation(s)
| | | | | | | | | | | | | | | | | | - Victor A Ferrari
- AHA/ACC Joint Committee on Clinical Practice Guidelines liaison
- SCMR representative
| | | | - Sadiya S Khan
- ACC/AHA Joint Committee on Performance Measures representative
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5
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van Pottelberghe S, Kupper N, Scheirlynck E, Amin AS, Wilde AAM, Hofman N, Callus E, Biller R, Nekkebroeck J, Van Dooren S, Hes FJ, van der Crabben SN. Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review. Eur J Hum Genet 2024; 32:607-618. [PMID: 38097768 PMCID: PMC11153546 DOI: 10.1038/s41431-023-01510-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/10/2023] [Revised: 11/08/2023] [Accepted: 11/22/2023] [Indexed: 06/07/2024] Open
Abstract
Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17-47%) and depression levels (8.3-28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC.
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Affiliation(s)
- Saar van Pottelberghe
- Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium.
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands.
| | - Nina Kupper
- Center of Research on Psychological Disorders and Somatic Diseases; Department of Medical & Clinical Psychology, Tilburg University, Tilburg, the Netherlands
| | - Esther Scheirlynck
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Cardiology Department, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, Brussels, Belgium
| | - Ahmad S Amin
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Cardiovascular Sciences, Heart Failure and arrhythmias, Amsterdam, the Netherlands
| | - Arthur A M Wilde
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Cardiovascular Sciences, Heart Failure and arrhythmias, Amsterdam, the Netherlands
| | - Nynke Hofman
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Cardiovascular Sciences, Heart Failure and arrhythmias, Amsterdam, the Netherlands
| | - Edward Callus
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Clinical Psychology Service, IRCCS Policlinico San Donato Research and University Hospital, San Donato Milanese, Milan, Italy
- Department of Biomedical Sciences for Health, University of Milan, Milan, Italy
| | - Ruth Biller
- European Patient Advocacy Group of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- ARVC-Selbsthilfe e.V., ARVC Patient Association, Munich, Germany
| | - Julie Nekkebroeck
- Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
| | - Sonia Van Dooren
- Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Clinical Sciences, Research Group Reproduction and Genetics, Brussel Interuniversity Genomics High Throughput Core (BRIGHTcore), Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium
| | - Frederik J Hes
- Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
| | - Saskia N van der Crabben
- Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands
- Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
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van Pottelberghe S, Heine F, Van Dooren S, Hes F, Kupper N. Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members. Eur J Hum Genet 2023; 31:1371-1380. [PMID: 36543931 PMCID: PMC9768771 DOI: 10.1038/s41431-022-01268-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2022] [Revised: 10/24/2022] [Accepted: 12/08/2022] [Indexed: 12/24/2022] Open
Abstract
Current clinical practice regarding inherited cardiac conditions has a biomedical focus, while psychological and social expertize and capacity are often lacking. As patient-centered care entails a multidisciplinary approach, the present study (a) explores barriers and facilitators of implementing patient-centered care in cardiogenetics and (b) contrasts various stakeholder viewpoints and perceived influence. We performed a three-round modified Delphi study using the input of a virtual expert panel comprising 25 medical professionals, 9 psychosocial professionals working in cardiogenetics, and 6 patient representatives. In round 1, the brainstorming phase and workshop breakout sessions were transcribed verbatim, coded and processed into unique statements listed as barriers and facilitators. In round 2, we asked the expert panel to validate, add or revise the list of barriers and facilitators. In round 3, the most relevant barriers and facilitators were ranked in importance. The experts identified 6 barriers dispersed across various levels of implementation. Having a blind spot for the patient perspective was of the highest importance, while the lack of multidisciplinary communication was ranked the lowest. We selected 9 facilitators: 2 were workflow related, 5 advocated various aspects of increased multidisciplinarity, and 2 suggested improvements in patient communication. This study revealed health system and organizational barriers and facilitators predominantly in implementing patient-centered care and only some patient-level factors. Some barriers and facilitators may be addressed easily (e.g., improving communication), while others may prove more complicated (e.g., biomedical thinking). Close interdisciplinary collaboration seems to be needed to implement PCC in cardiogenetics successfully.
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Affiliation(s)
- Saar van Pottelberghe
- Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, research group Reproduction and Genetics, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium.
- Member of the European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands.
| | - Fenja Heine
- Center of Research on Psychological disorders and Somatic diseases; Department of Medical & Clinical Psychology, Tilburg University, Tilburg, the Netherlands
| | - Sonia Van Dooren
- Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, research group Reproduction and Genetics, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium
- Member of the European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands
| | - Frederik Hes
- Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, research group Reproduction and Genetics, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium
- Member of the European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, Amsterdam, the Netherlands
| | - Nina Kupper
- Center of Research on Psychological disorders and Somatic diseases; Department of Medical & Clinical Psychology, Tilburg University, Tilburg, the Netherlands
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7
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Davies B, Allan KS, Carroll SL, Gibbs K, Roberts JD, MacIntyre C, Steinberg C, Tadros R, Dorian P, Healey JS, Gardner M, Laksman ZWM, Krahn AD, Fournier A, Seifer C, Lauck SB. Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest. Front Cardiovasc Med 2023; 10:955060. [PMID: 37255708 PMCID: PMC10225561 DOI: 10.3389/fcvm.2023.955060] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/28/2022] [Accepted: 03/10/2023] [Indexed: 06/01/2023] Open
Abstract
Background The role of multidisciplinary clinics for psychosocial care is increasingly recognized for those living with inherited cardiac conditions (ICC). In Canada, access to healthcare providers differ between clinics. Little is known about the relationship between access to specialty care and a patient's ability to cope with, and manage their condition. Methods We leveraged the Hearts in Rhythm Organization (HiRO) to conduct a cross-sectional, community-based survey of individuals with ICC and their family members. We aimed to describe access to services, and explore the relationships between participants' characteristics, cardiac history and self-reported health status and self-efficacy (GSE: General Self-Efficacy Scale) and empowerment (GCOS-24: Genetic Counseling Outcome Scale). Results We collected 235 responses from Canadian participants in 10 provinces and territories. Overall, 63% of participants reported involvement of a genetic counsellor in their care. Access to genetic testing was associated with greater empowerment [mean GCOS-24: 121.14 (SD = 20.53) vs. 105.68 (SD = 21.69); p = 0.004]. Uncertain genetic test results were associated with lower perceived self-efficacy (mean GSE: uncertain = 28.85 vs. positive = 33.16, negative = 34.13; p = 0.01). Low global mental health scores correlated with both lower perceived self-efficacy and empowerment scores, with only 11% of affected participants reporting involvement of psychology services in their care. Conclusion Differences in resource accessibility, clinical history and self-reported health status impact the perceived self-efficacy and empowerment of patients with ICC. Future research evaluating interventions to improve patient outcomes is recommended.
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Affiliation(s)
- Brianna Davies
- Centre for Cardiovascular Innovation, St. Paul’s and Vancouver General Hospitals, University of British Columbia, Vancouver, BC, Canada
| | - Katherine S. Allan
- Division of Cardiology, St. Michael’s Hospital, University of Toronto, Toronto, ON, Canada
| | - Sandra L. Carroll
- School of Nursing, Faculty of Health Science, Population Health Research Institute, McMaster University, Hamilton, ON, Canada
| | - Karen Gibbs
- Centre for Cardiovascular Innovation, St. Paul’s and Vancouver General Hospitals, University of British Columbia, Vancouver, BC, Canada
| | - Jason D. Roberts
- Section of Cardiac Electrophysiology, Division of Cardiology, Department ofMedicine, Western University, London, ON, Canada
| | | | - Christian Steinberg
- Institut Universitaire de Cardiologie et Pneumologie de Québec, Laval University, Quebec City, QC, Canada
| | - Rafik Tadros
- Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Montreal, QC, Canada
| | - Paul Dorian
- Division of Cardiology, St. Michael’s Hospital, University of Toronto, Toronto, ON, Canada
| | - Jeff S. Healey
- School of Nursing, Faculty of Health Science, Population Health Research Institute, McMaster University, Hamilton, ON, Canada
| | | | - Zachary W. M. Laksman
- Centre for Cardiovascular Innovation, St. Paul’s and Vancouver General Hospitals, University of British Columbia, Vancouver, BC, Canada
| | - Andrew D. Krahn
- Centre for Cardiovascular Innovation, St. Paul’s and Vancouver General Hospitals, University of British Columbia, Vancouver, BC, Canada
| | - Anne Fournier
- Division of Pediatric Cardiology, CHU Sainte-Justine, Université de Montréal, Montreal,QC, Canada
| | - Colette Seifer
- Department of Internal Medicine, St Boniface Hospital, University of Manitoba, Winnipeg, MB, Canada
| | - Sandra B. Lauck
- Centre for Cardiovascular Innovation, St. Paul’s and Vancouver General Hospitals, University of British Columbia, Vancouver, BC, Canada
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8
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Franciosi S, Abrams DJ, Ingles J, Sanatani S. Sudden Cardiac Arrest in the Paediatric Population. CJC PEDIATRIC AND CONGENITAL HEART DISEASE 2022; 1:45-59. [PMID: 37969243 PMCID: PMC10642157 DOI: 10.1016/j.cjcpc.2022.02.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/18/2021] [Accepted: 02/03/2022] [Indexed: 11/17/2023]
Abstract
Sudden cardiac arrest in the young is a rare event with a range of potential causes including cardiomyopathies, ion channelopathies, and autonomic nervous system dysfunction. Investigations into the cause involve a multidisciplinary team, including cardiologists, geneticists, and psychologists. In addition to a detailed medical history, family history and circumstances surrounding the event are important in determining the cause. Clinical investigations including an electrocardiogram are fundamental in diagnosis and should be interpreted cautiously because some children may have atypical presentations and an evolving phenotype. The potential for misdiagnosis exists that could lead to incorrect long-term management strategies. If an inherited condition is suspected, genetic testing of the patient and cascade screening of family members is recommended with genetic counselling and psychological support. Medical management is left to the treating physician acknowledging that a clear diagnosis cannot be made in approximately half of cases. Secondary prevention implantable defibrillators are widely deployed but can be associated with complications in young patients. A plan for safe return to activity is recommended along with a proper transition of care into adulthood. Broad screening of the general population for arrhythmia syndromes is not recommended; preventative measures include screening paediatric patients for risk factors by their primary care physician. Several milestone events or activities that take place in youth could be used as opportunities to promote safety. Further work into risk stratification of this paediatric population through patient registries and greater awareness of cardiopulmonary resuscitation and automated external defibrillator use in saving lives is warranted.
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Affiliation(s)
- Sonia Franciosi
- BC Children’s Hospital Heart Centre, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
| | - Dominic J. Abrams
- Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, USA
| | - Jodie Ingles
- Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia
- Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
| | - Shubhayan Sanatani
- BC Children’s Hospital Heart Centre, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
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9
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Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Yandell M, Tristani-Firouzi M, Etheridge SP, Webster G, George AL, McNally EM, MacLeod H, Burns KM. Family Screening After Sudden Death in a Population-Based Study of Children. Pediatrics 2022; 149:185400. [PMID: 35284934 PMCID: PMC9153292 DOI: 10.1542/peds.2021-054432] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/17/2021] [Indexed: 11/24/2022] Open
Abstract
In a US population-based registry of sudden death in the young, this study performed familial evaluation of surviving relatives.
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Affiliation(s)
- Prince J. Kannankeril
- Departments of Pediatrics,Address correspondence to Prince J. Kannankeril, MD, MSCI,
Professor of Pediatrics, Children’s Hospital at Vanderbilt, 2200
Children’s Way, Suite 5230, Nashville, TN 37232-9119, E-mail:
| | - M. Ben Shoemaker
- Medicine, Vanderbilt University Medical Center,
Nashville, Tennessee
| | | | - Dan M. Roden
- Medicine, Vanderbilt University Medical Center,
Nashville, Tennessee
| | - Mark Yandell
- Department of Human Genetics, Utah Center for Genetic
Discovery
| | | | - Susan P. Etheridge
- Division of Pediatric Cardiology, University of Utah,
Salt Lake City, Utah
| | - Gregory Webster
- Division of Cardiology, Ann & Robert H. Lurie
Children’s Hospital of Chicago
| | | | - Elizabeth M. McNally
- Center for Genetic Medicine, Northwestern University
Feinberg School of Medicine, Chicago, Illinois
| | - Heather MacLeod
- Data Coordinating Center for the Sudden Death in the
Young Case Registry, Michigan Public Health Institute, Okemos, Michigan
| | - Kristin M. Burns
- Division of Cardiovascular Sciences, National Heart,
Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland
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10
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van den Heuvel LM, Sarina T, Sweeting J, Yeates L, Bates K, Spinks C, O’Donnell C, Sears SF, McGeechan K, Semsarian C, Ingles J. A Prospective Longitudinal Study of Health-Related Quality of Life and Psychological Wellbeing after an Implantable Cardioverter Defibrillator in Patients with Genetic Heart Diseases. Heart Rhythm O2 2022; 3:143-151. [PMID: 35496461 PMCID: PMC9043389 DOI: 10.1016/j.hroo.2022.02.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022] Open
Abstract
Background Genetic heart diseases (GHDs) can be clinically heterogeneous and pose an increased risk of sudden cardiac death (SCD). The implantable cardioverter-defibrillator (ICD) is a lifesaving therapy. Impacts on prospective and long-term psychological and health-related quality of life (HR-QoL) after ICD implant in patients with GHDs are unknown. Objectives Investigate the psychological functioning and HR-QoL over time in patients with GHDs who receive an ICD, and identify risk factors for poor psychological functioning and HR-QoL. Methods A longitudinal, prospective study design was used. Patients attending a specialized clinic, diagnosed with a GHD for which they received an ICD between May 2012 and January 2015, were eligible. Baseline surveys were completed prior to ICD implantation with 5-year follow-up after ICD implant. We measured psychological functioning (Hospital Anxiety Depression Scale, Florida Shock Anxiety Scale), HR-QoL (Short-Form 36v2), and device acceptance (Florida Patient Acceptance Scale). Results Forty patients were included (mean age 46.3 ± 14.2 years; 65.0% male). Mean psychological and HR-QoL measures were within normative ranges during follow-up. After 12 months, 33.3% and 19.4% of participants showed clinically elevated levels of anxiety and depression, respectively. Longitudinal mixed-effect analysis showed significant improvements from baseline to first follow-up for the overall cohort, with variability increasing after 36 months. Nontertiary education and female sex predicted worse mental HR-QoL and anxiety over time, while comorbidities predicted depression and worse physical HR-QoL. Conclusion While the majority of patients with a GHD adjust well to their ICD implant, a subset of patients experience poor psychological and HR-QoL outcomes.
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11
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Vogiatzi G, Lazaros G, Oikonomou E, Lazarou E, Vavuranakis E, Tousoulis D. Role of genetic testing in cardiomyopathies: Α primer for cardiologists. World J Cardiol 2022; 14:29-39. [PMID: 35126870 PMCID: PMC8788175 DOI: 10.4330/wjc.v14.i1.29] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/31/2021] [Revised: 07/18/2021] [Accepted: 01/11/2022] [Indexed: 02/06/2023] Open
Abstract
Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the management of these cases. Specific genetic testing has a paramount importance in the risk stratification of family members, in the prognosis of probands at higher risk of a serious phenotype expression, and finally in the identification of new mutations, all of which are discussed in this review. The indications for each type of cardiomyopathy are described, along with the limitations of genetic testing. Finally, the importance of public sharing of variants in large data sets is emphasized. The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.
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Affiliation(s)
- Georgia Vogiatzi
- The Third Department of Cardiology, Sotiria Hospital, Athens 11527, Greece.
| | - George Lazaros
- The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece
| | - Evangelos Oikonomou
- The First Department of Cardiology, Hippokration Hospital, Medical School of National and Kapodistrian University of Athens, Athens 11527, Greece
| | - Emilia Lazarou
- The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece
| | | | - Dimitris Tousoulis
- The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece
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12
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Mason S, Quinn E, Halliday BP. The promise and challenges of precision medicine in dilated cardiomyopathy. Eur Heart J Case Rep 2021; 5:ytab391. [PMID: 34746638 PMCID: PMC8567069 DOI: 10.1093/ehjcr/ytab391] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2021] [Revised: 08/24/2021] [Accepted: 09/20/2021] [Indexed: 11/13/2022]
Affiliation(s)
- Samantha Mason
- Inherited Cardiovascular Conditions Care Group, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
| | - Ellie Quinn
- Inherited Cardiovascular Conditions Care Group, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
| | - Brian P Halliday
- Inherited Cardiovascular Conditions Care Group, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
- National Heart and Lung Institute, Imperial College London, Dovehouse St, London, SW3 6NP, UK
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13
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Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P, O'Gara PT, Beckman JA, Levine GN, Al-Khatib SM, Armbruster A, Birtcher KK, Ciggaroa J, Dixon DL, de las Fuentes L, Deswal A, Fleisher LA, Gentile F, Goldberger ZD, Gorenek B, Haynes N, Hernandez AF, Hlatky MA, Joglar JA, Jones WS, Marine JE, Mark D, Palaniappan L, Piano MR, Tamis-Holland J, Wijeysundera DN, Woo YJ. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Thorac Cardiovasc Surg 2021; 162:e23-e106. [PMID: 33926766 DOI: 10.1016/j.jtcvs.2021.04.001] [Citation(s) in RCA: 29] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
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14
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Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Juang JMJ, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. J Arrhythm 2021; 37:481-534. [PMID: 34141003 PMCID: PMC8207384 DOI: 10.1002/joa3.12449] [Citation(s) in RCA: 16] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2020] [Accepted: 10/14/2020] [Indexed: 12/26/2022] Open
Abstract
This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.
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Affiliation(s)
- Martin K Stiles
- Waikato Clinical School Faculty of Medicine and Health Science The University of Auckland Hamilton New Zealand
| | - Arthur A M Wilde
- Heart Center Department of Clinical and Experimental Cardiology Amsterdam University Medical Center University of Amsterdam Amsterdam the Netherlands
| | | | | | | | - Elijah R Behr
- Cardiovascular Clinical Academic Group, Molecular and Clinical Sciences Institute St George's University of London, and St George's University Hospitals NHS Foundation Trust London UK
| | | | - Martina C Cornel
- Amsterdam University Medical Center Vrije Universiteit Amsterdam Clinical Genetics Amsterdam Public Health Research Institute Amsterdam the Netherlands
| | | | - Jodie Ingles
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute The University of Sydney Sydney Australia
| | | | - Jyh-Ming Jimmy Juang
- Cardiovascular Center and Division of Cardiology Department of Internal Medicine National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan
| | - Stefan Kääb
- Department of Medicine I University Hospital LMU Munich Munich Germany
| | | | | | | | - Heather MacLeod
- Data Coordinating Center for the Sudden Death in the Young Case Registry Okemos MI USA
| | | | - Koonlawee Nademanee
- Chulalongkorn University Faculty of Medicine, and Pacific Rim Electrophysiology Research Institute at Bumrungrad Hospital Bangkok Thailand
| | | | - Elizabeth V Saarel
- Cleveland Clinic Lerner College of Cardiology at Case Western Reserve University Cleveland OH USA
- St Luke's Medical Center Boise ID USA
| | - Luciana Sacilotto
- Heart Institute University of São Paulo Medical School São Paulo Brazil
| | - Christopher Semsarian
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute The University of Sydney Sydney Australia
| | - Mary N Sheppard
- Cardiovascular Clinical Academic Group, Molecular and Clinical Sciences Institute St George's University of London, and St George's University Hospitals NHS Foundation Trust London UK
| | - Wataru Shimizu
- Department of Cardiovascular Medicine Nippon Medical School Tokyo Japan
| | | | - Jacob Tfelt-Hansen
- Department of Forensic Medicine Faculty of Medical Sciences Rigshospitalet Copenhagen Denmark
| | - Dao Wu Wang
- The First Affiliated Hospital of Nanjing Medical University Nanjing China
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15
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A new era of genetic testing in congenital heart disease: A review. Trends Cardiovasc Med 2021; 32:311-319. [PMID: 33964404 DOI: 10.1016/j.tcm.2021.04.011] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/03/2021] [Revised: 04/07/2021] [Accepted: 04/29/2021] [Indexed: 11/24/2022]
Abstract
Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing. Our experience demonstrates that a dedicated CHD genetics clinic is a valuable addition to a multidisciplinary team providing care to children with CHD.
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16
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Abstract
PURPOSE OF REVIEW The role of genetic testing in diagnosis and management of dyslipidemias continues to grow. Consequently, it is increasingly important for patients to have access to clinicians who have expertise in medical genetics and the psychological implications related to this type of testing. Often a lipidologist has had limited training in this regard, and this review explores the role of the genetic counselor to fill this gap. RECENT FINDINGS Genetic counselors are key members of the healthcare team, and their specialized training in medical genetics and counseling allows them to fill this professional knowledge gap within the lipid clinic. SUMMARY With the continued emphasis on precision medicine, the utility of genetic testing for dyslipidemias will continue to grow. This will in turn increase the demand for provider expertise in medical genetics and counseling around these complex issues. Integrating a genetic counselor within the lipid clinic provides an ideal management scenario providing patients and families with access to not only medical information but also emotional support regarding their hereditary condition.
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Affiliation(s)
- Emily E Brown
- Center for Inherited Heart Disease, Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, USA
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17
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Murray GK, Lin T, Austin J, McGrath JJ, Hickie IB, Wray NR. Could Polygenic Risk Scores Be Useful in Psychiatry?: A Review. JAMA Psychiatry 2021; 78:210-219. [PMID: 33052393 DOI: 10.1001/jamapsychiatry.2020.3042] [Citation(s) in RCA: 146] [Impact Index Per Article: 36.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
IMPORTANCE Polygenic risk scores (PRS) are predictors of the genetic susceptibility to diseases, calculated for individuals as weighted counts of thousands of risk variants in which the risk variants and their weights have been identified in genome-wide association studies. Polygenic risk scores show promise in aiding clinical decision-making in many areas of medical practice. This review evaluates the potential use of PRS in psychiatry. OBSERVATIONS On their own, PRS will never be able to establish or definitively predict a diagnosis of common complex conditions (eg, mental health disorders), because genetic factors only contribute part of the risk and PRS will only ever capture part of the genetic contribution. Combining PRS with other risk factors has potential to improve outcome prediction and aid clinical decision-making (eg, determining follow-up options for individuals seeking help who are at clinical risk of future illness). Prognostication of adverse physical health outcomes or response to treatment in clinical populations are of great interest for psychiatric practice, but data from larger samples are needed to develop and evaluate PRS. CONCLUSIONS AND RELEVANCE Polygenic risk scores will contribute to risk assessment in clinical psychiatry as it evolves to combine information from molecular, clinical, and lifestyle metrics. The genome-wide genotype data needed to calculate PRS are inexpensive to generate and could become available to psychiatrists as a by-product of practices in other medical specialties. The utility of PRS in clinical psychiatry, as well as ethical issues associated with their use, should be evaluated in the context of realistic expectations of what PRS can and cannot deliver. Clinical psychiatry has lagged behind other fields of health care in its use of new technologies and routine clinical data for research. Now is the time to catch up.
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Affiliation(s)
- Graham K Murray
- Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.,Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom.,Cambridgeshire and Peterborough NHS Foundation Trust, Cambridge, United Kingdom
| | - Tian Lin
- Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
| | - Jehannine Austin
- Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.,BC Mental Health and Substance Use Services Research Institute, Vancouver, British Columbia, Canada
| | - John J McGrath
- Queensland Brain Institute, The University of Queensland, Brisbane, Australia.,Queensland Centre for Mental Health Research, The Park Centre for Mental Health, Wacol, Australia.,National Centre for Register-based Research, Aarhus University, Aarhus, Denmark
| | - Ian B Hickie
- Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
| | - Naomi R Wray
- Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.,Queensland Brain Institute, The University of Queensland, Brisbane, Australia
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18
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Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Jimmy Juang JM, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm 2021; 18:e1-e50. [PMID: 33091602 PMCID: PMC8194370 DOI: 10.1016/j.hrthm.2020.10.010] [Citation(s) in RCA: 183] [Impact Index Per Article: 45.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/09/2020] [Accepted: 10/09/2020] [Indexed: 12/13/2022]
Abstract
This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.
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Affiliation(s)
- Martin K Stiles
- Waikato Clinical School, Faculty of Medicine and Health Science, The University of Auckland, Hamilton, New Zealand
| | - Arthur A M Wilde
- Amsterdam University Medical Center, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam, the Netherlands
| | | | | | | | - Elijah R Behr
- Cardiovascular Clinical Academic Group, Molecular and Clinical Sciences Institute, St George's, University of London, and St George's University Hospitals NHS Foundation Trust, London, United Kingdom
| | - Sumeet S Chugh
- Cedars-Sinai Medical Center, Los Angeles, California, USA
| | - Martina C Cornel
- Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Clinical Genetics, Amsterdam Public Health Research Institute, Amsterdam, the Netherlands
| | | | - Jodie Ingles
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia
| | | | - Jyh-Ming Jimmy Juang
- Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
| | - Stefan Kääb
- Department of Medicine I, University Hospital, LMU Munich, Munich, Germany
| | | | - Andrew D Krahn
- The University of British Columbia, Vancouver, British Columbia, Canada
| | | | - Heather MacLeod
- Data Coordinating Center for the Sudden Death in the Young Case Registry, Okemos, Michigan, USA
| | | | - Koonlawee Nademanee
- Chulalongkorn University, Faculty of Medicine, and Pacific Rim Electrophysiology Research Institute at Bumrungrad Hospital, Bangkok, Thailand
| | | | - Elizabeth V Saarel
- Cleveland Clinic Lerner College of Cardiology at Case Western Reserve University, Cleveland, Ohio, and St Luke's Medical Center, Boise, Idaho, USA
| | - Luciana Sacilotto
- Heart Institute, University of São Paulo Medical School, São Paulo, Brazil
| | - Christopher Semsarian
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia
| | - Mary N Sheppard
- Cardiovascular Clinical Academic Group, Molecular and Clinical Sciences Institute, St George's, University of London, and St George's University Hospitals NHS Foundation Trust, London, United Kingdom
| | - Wataru Shimizu
- Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan
| | - Jonathan R Skinner
- Cardiac Inherited Disease Group, Starship Hospital, Auckland, New Zealand
| | - Jacob Tfelt-Hansen
- Department of Forensic Medicine, Faculty of Medical Sciences, Rigshospitalet, Copenhagen, Denmark
| | - Dao Wu Wang
- The First Affiliated Hospital of Nanjing Medical University, Nanjing, China
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19
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Wray NR, Lin T, Austin J, McGrath JJ, Hickie IB, Murray GK, Visscher PM. From Basic Science to Clinical Application of Polygenic Risk Scores: A Primer. JAMA Psychiatry 2021; 78:101-109. [PMID: 32997097 DOI: 10.1001/jamapsychiatry.2020.3049] [Citation(s) in RCA: 203] [Impact Index Per Article: 50.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
IMPORTANCE Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of individuals to diseases. All individuals have DNA risk variants for all common diseases, but genetic susceptibility differences between people reflect the cumulative burden of these. Polygenic risk scores for an individual are calculated as weighted counts of thousands of risk variants that they carry, where the risk variants and their weights have been identified in genome-wide association studies. Here, we review the underlying basic science of PRS, providing a foundation for understanding the potential clinical utility and limitations of PRS. OBSERVATIONS Polygenic risk scores can be calculated for a wide range of diseases from a saliva or blood sample using genotyping technologies that are inexpensive. While genotyping only needs to be done once for each individual in their lifetime, the PRS can be recalculated as identification of risk variants improves. On their own, PRS will never be able to establish or definitively predict future diagnoses of common complex conditions because genetic factors only contribute part of the risk, and PRS will only ever capture part of the genetic contributions. Nonetheless, just as clinical medicine uses a multitude of other predictive measures, PRS either on their own or as part of multivariable predictive algorithms could play a role. CONCLUSIONS AND RELEVANCE Utility of PRS in clinical medicine and ethical issues related to their use should be evaluated in the context of realistic expectations of what PRS can and cannot deliver. For different diseases, PRS could have utility in community settings (stratification to better triage people into established screening programs) or could contribute to clinical decision-making for those presenting with symptoms but where formal diagnosis is unclear. In principle, PRS could contribute to treatment choices, but more data are needed to allow development of PRS in this context.
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Affiliation(s)
- Naomi R Wray
- Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.,Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia
| | - Tian Lin
- Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
| | - Jehannine Austin
- Departments of Psychiatry and Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.,BC Mental Health and Substance Use Services Research Institute, Vancouver, British Columbia, Canada
| | - John J McGrath
- Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.,Queensland Centre for Mental Health Research, The Park Centre for Mental Health, Wacol, Queensland, Australia.,National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark
| | - Ian B Hickie
- Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.,Cambridgeshire and Peterborough NHS Foundation Trust, Cambridge, England
| | - Graham K Murray
- Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.,Cambridgeshire and Peterborough NHS Foundation Trust, Cambridge, England.,Department of Psychiatry, University of Cambridge, Cambridge, England
| | - Peter M Visscher
- Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
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20
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Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 2020; 76:e159-e240. [PMID: 33229116 DOI: 10.1016/j.jacc.2020.08.045] [Citation(s) in RCA: 434] [Impact Index Per Article: 86.8] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
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21
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Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy. Circulation 2020; 142:e558-e631. [DOI: 10.1161/cir.0000000000000937] [Citation(s) in RCA: 81] [Impact Index Per Article: 16.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
Affiliation(s)
| | | | | | | | | | - Anita Deswal
- ACC/AHA Joint Committee on Clinical Practice Guidelines Liaison
- HFSA Representative
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22
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McDonald K, Sharpe L, Yeates L, Semsarian C, Ingles J. Needs analysis of parents following sudden cardiac death in the young. Open Heart 2020; 7:openhrt-2019-001120. [PMID: 32709698 PMCID: PMC7380729 DOI: 10.1136/openhrt-2019-001120] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/01/2019] [Revised: 04/16/2020] [Accepted: 06/17/2020] [Indexed: 01/22/2023] Open
Abstract
Objective The sudden cardiac death (SCD) of a young person is a devastating event for any parent. Inherited heart disease is often either identified or assumed to be the cause. Few studies have explored the psychosocial impact to the surviving at-risk family members. We sought to investigate the needs of parents who have experienced the SCD of their child (≤45 years). Methods A quantitative needs analysis questionnaire was developed based on semistructured interviews, including one focus group and a review of relevant literature. Eligible participants were invited to participate in this cross-sectional survey study. Results There were 38 parents who completed a quantitative survey. Parents’ perceived needs for information and support spanned medical, psychosocial, spiritual and financial domains. Of the support and information needs assessed, medical needs were identified as the most important domain, followed by psychosocial, spiritual and financial. Importantly, psychosocial information and support needs were reported as the most unmet need, endorsed by 54% of parents. Medical information and support needs were reported as unmet by almost one third of parents. The two most endorsed needs were ‘To have the option of whether or not you would pursue genetic testing for yourself or family members’ and ‘To understand what happened’. Conclusions This work demonstrates for the first time, the multifactorial needs of parents after SCD in the young. With the greatest unmet need reported as psychosocial needs, there is clear necessity to find ways of integrating psychological support in to the care of families after SCD in the young.
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Affiliation(s)
- Kristie McDonald
- School of Psychology, The University of Sydney, Sydney, New South Wales, Australia.,Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia
| | - Louise Sharpe
- School of Psychology, The University of Sydney, Sydney, New South Wales, Australia
| | - Laura Yeates
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.,Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
| | - Christopher Semsarian
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.,Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
| | - Jodie Ingles
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia .,Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.,Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
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23
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Jordan E, Hershberger RE. Considering complexity in the genetic evaluation of dilated cardiomyopathy. Heart 2020; 107:106-112. [PMID: 33109712 DOI: 10.1136/heartjnl-2020-316658] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/15/2020] [Revised: 09/30/2020] [Accepted: 10/02/2020] [Indexed: 02/06/2023] Open
Abstract
Dilated cardiomyopathy (DCM) is a cardiovascular disease of genetic aetiology that causes substantial morbidity and mortality, and presents considerable opportunity for disease mitigation and prevention in those at risk. Foundational to the process of caring for patients diagnosed with DCM is a clinical genetic evaluation, which always begins with a comprehensive family history and clinical evaluation. Genetic testing of the proband, the first patient identified in a family with DCM, within the context of genetic counselling is always indicated, regardless of whether the DCM is familial or non-familial. Clinical screening of at-risk family members is also indicated, as is cascade genetic testing for actionable variants found at genetic testing in the proband. Clinicians now have expansive panels with many genes available for DCM genetic testing, and the approaches used to evaluate rare variants to decide which are disease-causing continues to rapidly evolve. Despite these recent advances, only a minority of cases yield actionable variants, even in familial DCM where a genetic aetiology is highly likely. This underscores that our knowledge of DCM clinical genetics remains incomplete, including variant interpretation and DCM genetic architecture. Emerging data suggest that the single-variant Mendelian disease model is insufficient to explain some DCM cases, and rather that multiple variants, both common and rare, and at times key environmental factors, interact to cause DCM. A simple model illustrating the intersection of DCM genetic architecture with environmental impact is provided.
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Affiliation(s)
- Elizabeth Jordan
- Division of Human Genetics, The Ohio State University, Columbus, Ohio, USA
| | - Ray E Hershberger
- Division of Human Genetics, The Ohio State University, Columbus, Ohio, USA.,Division of Cardiovascular Medicine, The Ohio State University, Columbus, Ohio, USA
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24
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Ingles J. Psychological Issues in Managing Families with Inherited Cardiovascular Diseases. Cold Spring Harb Perspect Med 2020; 10:cshperspect.a036558. [PMID: 31548222 DOI: 10.1101/cshperspect.a036558] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
Abstract
The field of cardiovascular genetic counseling has evolved dramatically in recent years largely to manage the unique psychological needs of the inherited cardiovascular disease patient population. For many, there can be difficulty in coming to terms with a diagnosis, whether it be adjusting to lifestyle recommendations such as exclusion from competitive sports or living with a small but remarkable risk of sudden cardiac death. For those considered at risk of life-threatening ventricular arrhythmias, the decision to have an implantable cardioverter defibrillator can be difficult. Living with the device, especially for those who are young and those who receive multiple shocks, can precipitate psychological distress and poor adaptation to the device. Family members who experience a sudden cardiac death of a young relative have a significant risk of poor psychological outcomes. The roles of the cardiac genetic counselor in facilitating patients' adaptation to their diagnoses and management and recognizing when additional support from a clinical psychologist is needed are key to ensuring families receive the best possible care.
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Affiliation(s)
- Jodie Ingles
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Newtown, New South Wales NSW 2042, Australia.,Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales NSW 2000, Australia.,Department of Cardiology, Royal Prince Alfred Hospital, Camperdown, New South Wales NSW 2050, Australia
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25
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Muller RD, McDonald T, Pope K, Cragun D. Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes. CIRCULATION-GENOMIC AND PRECISION MEDICINE 2020; 13:e002789. [DOI: 10.1161/circgen.119.002789] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Background:
Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management recommendations for VUS patients and their families, is important to prevent over- or under-treatment that may result in morbidity or mortality. The purpose of this study is to describe practices related to VUS results including information and medical management recommendations providers give patients and their families.
Methods:
An anonymous online survey was distributed to genetic counselors (GCs) and cardiologists who have seen at least one patient for inherited arrhythmias or cardiomyopathies. The survey explored providers’ confidence in counseling, explanation of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hypothetical scenario maximizing uncertainty with an unclear clinical and molecular diagnosis. Descriptive statistics were calculated, and median confidence and likelihood of making various medical recommendations were compared across provider type.
Results:
Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23 cardiologists. GCs feel more confident than cardiologists counseling about VUS results (
P
<0.001); while both cardiovascular GCs and cardiologists feel more confident than other GCs in providing input regarding medical management recommendations (
P
=0.001 and
P
=0.01, respectively). Cardiologists were more likely than cardiac GCs to recommend clinical testing for family members even though testing in the scenario is expected to be uninformative.
Conclusions:
These findings illustrate how the expertise of different providers may impact decision processes, suggesting the need for interdisciplinary clinics to optimize care for challenging cases.
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Affiliation(s)
- Reka D. Muller
- College of Medicine, Department of Obstetrics and Gynecology (R.D.M.), University of South Florida, Tampa, FL
| | - Thomas McDonald
- College of Medicine, Department of Cardiovascular Sciences (T.M.), University of South Florida, Tampa, FL
| | - Kathleen Pope
- College of Public Health (K.P., D.C.), University of South Florida, Tampa, FL
| | - Deborah Cragun
- College of Public Health (K.P., D.C.), University of South Florida, Tampa, FL
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Abstract
Cardiovascular genetic counselors provide guidance to people facing the reality or prospect of inherited cardiovascular conditions. Key activities in this role include discussing clinical cardiac screening for at-risk family members and offering genetic testing. Psychological factors often influence whether patients choose to have genetic testing and how they understand and communicate the results to at-risk relatives, so psychological counseling increases the impact of genetic education and medical recommendations. This work reviews the literature on the factors that influence patient decisions about cardiovascular genetic testing and the psychological impact of results on people who opt to test. It also models use of a psychological framework to apply themes from the literature to routine cardiovascular genetic counseling practice. Modifications of the framework are provided to show how it can be adapted to serve the needs of both new and experienced genetic counselors.
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Affiliation(s)
- Julia Platt
- Stanford Center for Inherited Cardiovascular Disease, Falk Cardiovascular Research Center, Stanford, California 94305, USA
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27
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Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, Moerman A, Toutain A, Akloul L, Brehin AC, Sawka C, Rooryck C, Schaefer E, Nguyen K, Dupin Deguine D, Rouzier C, Billy G, Séné K, Denjoy I, Leheup B, Planes M, Mazzella JM, Staraci S, Hebert M, Le Boette E, Michon CC, Babonneau ML, Curjol A, Bekhechi A, Mansouri R, Raji I, Pruny JF, Fressart V, Ader F, Richard P, Tezenas du Montcel S, Gargiulo M, Charron P. Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study. J Clin Med 2020; 9:jcm9051365. [PMID: 32384747 PMCID: PMC7290753 DOI: 10.3390/jcm9051365] [Citation(s) in RCA: 17] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/31/2020] [Revised: 04/28/2020] [Accepted: 04/29/2020] [Indexed: 11/16/2022] Open
Abstract
Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were “to remove doubt” and “for their children”. The level of anxiety increased between pre-test and result appointments (p <0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p <0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.
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Affiliation(s)
- Céline Bordet
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
- Correspondence: (C.B.); (P.C.)
| | - Sandrine Brice
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, F75013 Paris, France;
| | - Carole Maupain
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
- APHP, department of cardiology, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- ACTION Study Group, Pitié-Salpêtrière University Hospital, 75013 Paris, France
| | - Estelle Gandjbakhch
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
- APHP, department of cardiology, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- ACTION Study Group, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Sorbonne Université, INSERM, UMRS 1166 and ICAN Institute for Cardiometabolism and Nutrition, 75013 Paris, France
| | - Bertrand Isidor
- Department of Genetics, Nantes University Hospital, 44000 Nantes, France;
| | - Aurélien Palmyre
- APHP, department of Genetics, Ambroise Paré University Hospital, 92100 Boulogne-Billancourt, France;
| | - Alexandre Moerman
- Department of Genetics, Lille University Hospital, Jeanne de Flandre Hospital, 59000 Lille, France;
| | - Annick Toutain
- Department of Medical Genetics, Tours University Hospital, 37044 Tours, France;
| | - Linda Akloul
- Department of Medical Genetics, Rennes University Hospital, 35000 Rennes, France;
| | - Anne-Claire Brehin
- Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France;
| | - Caroline Sawka
- Medical Genetics Unit, FHU TRANSLAD and GIMI Institute, Dijon University Hospital, 21000 Dijon, France;
| | - Caroline Rooryck
- Department of Medical Genetics, CHU Bordeaux, Bordeaux, France, F-33000 Bordeaux, France;
| | - Elise Schaefer
- Department of Genetics, Strasbourg University Hospital, Institut de Génétique Médicale d’Alsace, 67200 Strasbourg, France;
| | - Karine Nguyen
- Department of Medical Genetics, APHM, Timone Hospital, Marseille Medical Genetics, Aix Marseille University, 13000 Marseille, France;
| | | | - Cécile Rouzier
- Department of Medical Genetics, Université Côte d’Azur, CHU, Inserm, CNRS, IRCAN, 06000 Nice, France;
| | - Gipsy Billy
- Department of Medical Genetics, Centre Hospitalo-Universitaire Grenoble Alpes, 38700 Grenoble, France;
| | - Krystelle Séné
- Clinical Genetics Unit, University Hospital, Guadeloupe University Hospital, 97159 Guadalupe Island, France;
| | - Isabelle Denjoy
- APHP, Department of cardiology, Referral Center for hereditary heart disease, Bichat Hospital, 75018 Paris, France;
| | - Bruno Leheup
- Department of Medical Genetics, University Hospital, 54042 Nancy, France;
| | - Marc Planes
- Department of Medical Genetics, University Hospital Morvan, 29200 Brest, France;
| | - Jean-Michael Mazzella
- APHP, Department of Medical Genetics, Hôpital Européen Georges Pompidou, 75015 Paris, France;
| | - Stéphanie Staraci
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Mélanie Hebert
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Elsa Le Boette
- Department of Genetics, Saint Brieuc Hospital, 22000 Saint-Brieuc, France;
| | - Claire-Cécile Michon
- Filière nationale de santé CARDIOGEN, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.-C.M.); (M.-L.B.)
| | - Marie-Lise Babonneau
- Filière nationale de santé CARDIOGEN, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.-C.M.); (M.-L.B.)
| | - Angélique Curjol
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Amine Bekhechi
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Rafik Mansouri
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Ibticem Raji
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
| | - Jean-François Pruny
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
- APHP, Department of cardiology, Referral Center for hereditary heart disease, Bichat Hospital, 75018 Paris, France;
| | - Véronique Fressart
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (V.F.); (F.A.); (P.R.)
| | - Flavie Ader
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (V.F.); (F.A.); (P.R.)
- Faculté de Pharmacie Paris Descartes, Département 3, 75006 Paris, France
| | - Pascale Richard
- Sorbonne Université, INSERM, UMRS 1166 and ICAN Institute for Cardiometabolism and Nutrition, 75013 Paris, France
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (V.F.); (F.A.); (P.R.)
| | - Sophie Tezenas du Montcel
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, AP-HP, Hôpitaux Universitaires Pitié-Salpêtrière—Charles Foix, F75013 Paris, France; (S.T.d.M.); (M.G.)
| | - Marcela Gargiulo
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, AP-HP, Hôpitaux Universitaires Pitié-Salpêtrière—Charles Foix, F75013 Paris, France; (S.T.d.M.); (M.G.)
- Institut of Myologie, Pitié-Salpêtrière University Hospital, 75013 Paris, France
| | - Philippe Charron
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.M.); (E.G.); (S.S.); (M.H.); (A.C.); (A.B.); (R.M.); (I.R.); (J.-F.P.)
- ACTION Study Group, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Sorbonne Université, INSERM, UMRS 1166 and ICAN Institute for Cardiometabolism and Nutrition, 75013 Paris, France
- APHP, department of Genetics, Ambroise Paré University Hospital, 92100 Boulogne-Billancourt, France;
- Filière nationale de santé CARDIOGEN, Pitié-Salpêtrière University Hospital, 75013 Paris, France; (C.-C.M.); (M.-L.B.)
- Correspondence: (C.B.); (P.C.)
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28
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Affiliation(s)
- Alun C Jackson
- Australian Centre for Heart Health, Melbourne, Victoria, Australia
- Faculty of Health, Deakin University, Geelong, Victoria, Australia
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29
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Genetic Testing in Inherited Heart Diseases. Heart Lung Circ 2019; 29:505-511. [PMID: 31813745 DOI: 10.1016/j.hlc.2019.10.014] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2019] [Revised: 10/02/2019] [Accepted: 10/13/2019] [Indexed: 12/19/2022]
Abstract
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Genetic testing has evolved rapidly over the last decade and is now considered a mainstream component of clinical management of inherited heart diseases. Cardiac manifestations can also be part of wider syndromes, and genetic testing can play a critical role in clarifying the underlying aetiological basis of disease in some cases. The greatest utility of a genetic diagnosis, however, comes from the ability to elucidate disease risk amongst asymptomatic at-risk family members. Given the nuances and challenges, cardiac genetic testing is best performed in a multidisciplinary specialised clinic with access to cardiac genetic counselling.
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30
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A Review of the Emergence and Expansion of Cardiovascular Genetic Counseling. CURRENT CARDIOVASCULAR RISK REPORTS 2019. [DOI: 10.1007/s12170-019-0631-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
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31
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Jackson AC, Frydenberg E, Koey XM, Fernandez A, Higgins RO, Stanley T, Liang RPT, Le Grande MR, Murphy BM. Enhancing Parental Coping with a Child's Heart Condition: A Co-production Pilot Study. Compr Child Adolesc Nurs 2019; 43:314-333. [PMID: 31584303 DOI: 10.1080/24694193.2019.1671915] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
Abstract
Families of children with congenital heart disease (CHD) can have difficulties coping with the stress of their child's condition and would benefit from assistance to cope better. To address the needs of these parents, the Australian Center for Heart Health/HeartKids Australia/Melbourne Graduate School of Education co-produced Family Coping Project was initiated. This project involved two systematic literature reviews, interviews with parents of children with CHD, and the development and piloting of a manualised parental coping program. The primary aims of the pilot study were to determine whether the program would: attract high needs families; enhance the coping self-efficacy of parents; and be acceptable to parents in terms of content and mode of delivery. The secondary aims were to investigate whether the program would impact on parental coping, parental stress and general stress. Parents completed pre-, post-program and 6-month follow up assessment measures, with parent stress scores being compared to stress scores reported for other chronic condition parent carer groups. Twenty-one parents participated and provided baseline data. They were found to be significantly more stressed than other parent carer groups. Eleven parents completed post-program data and 13 completed 6-month follow-up data. There was a significant increase in parents' coping self-efficacy from pre- to post-program, and from pre- to 6-months. Parents' use of productive coping styles increased significantly from pre- to post-program. The program was rated as highly acceptable in terms of content and delivery mode. The pilot provides strong evidence for upscaling the program in conjunction with individualized psychological support for parents to extend knowledge acquisition and attitude change into enhanced coping skills and demonstrated the benefits of a co-production process.
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Affiliation(s)
- Alun C Jackson
- Australian Centre for Heart Health , Melbourne, Australia.,Faculty of Health, Deakin University , Geelong, Australia.,Melbourne Graduate School of Education, University of Melbourne , Melbourne, Australia.,Centre on Behavioural Health, Hong Kong University , Hong Kong, People's Republic of China
| | - Erica Frydenberg
- Melbourne Graduate School of Education, University of Melbourne , Melbourne, Australia
| | - Xui Min Koey
- Melbourne Graduate School of Education, University of Melbourne , Melbourne, Australia
| | - Amanda Fernandez
- Melbourne Graduate School of Education, University of Melbourne , Melbourne, Australia
| | - Rosemary O Higgins
- Australian Centre for Heart Health , Melbourne, Australia.,Faculty of Health, Deakin University , Geelong, Australia.,Department of Physiotherapy, University of Melbourne , Melbourne, Australia
| | - Tracy Stanley
- HeartKids Australia Family Support Program, Royal Children's Hospital , Melbourne, Australia
| | - Rachel Pui-Tak Liang
- Melbourne Graduate School of Education, University of Melbourne , Melbourne, Australia
| | - Michael R Le Grande
- Australian Centre for Heart Health , Melbourne, Australia.,Faculty of Health, Deakin University , Geelong, Australia
| | - Barbara M Murphy
- Australian Centre for Heart Health , Melbourne, Australia.,Faculty of Health, Deakin University , Geelong, Australia.,Department of Psychology, University of Melbourne , Melbourne, Australia
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32
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Orland KM, Anderson KB. Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations. CURRENT GENETIC MEDICINE REPORTS 2019. [DOI: 10.1007/s40142-019-00170-x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
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33
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Strange G, Stewart S, Farthing M, Kasparian NA, Selbie L, O'Donnell C, Ayer J, Cordina R, Celermajer D. Living With, and Caring for, Congenital Heart Disease in Australia: Insights From the Congenital Heart Alliance of Australia and New Zealand Online Survey. Heart Lung Circ 2019; 29:216-223. [PMID: 30826267 DOI: 10.1016/j.hlc.2018.12.009] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2018] [Accepted: 12/11/2018] [Indexed: 11/30/2022]
Abstract
BACKGROUND There is a paucity of data describing the day-to-day experiences of adult Australians personally living with or caring for a child born with congenital heart disease (CHD). Such data would be of great practical importance to inform health care initiatives to improve outcomes. METHODS 588 men (38.3 ± 11.9 years) and women (39.6 ± 12.6 years, 78% of respondent patients) living with CHD and 1,091 adult carers (93% mothers) of children with CHD (median age 7.3 [IQR 3.5-13.3 years], 54% male), representing all Australian states and territories, responded to a comprehensive online survey designed and hosted by the Congenital Heart Alliance of Australia and New Zealand. Data on demographic factors, the nature of underlying CHD, interactions with health care services, psychological wellbeing and wider impacts of CHD were collected. RESULTS Most respondents were able to identify the type of CHD they (29% with a simple lesion such atrial septal defect, 17% tetralogy of Fallot) or their child had (21% with a simple lesion, 15% tetralogy of Fallot), whilst 90% cases of CHD had undergone cardiac surgery. Patients with CHD were mostly employed (70%) or studying (8.8%), whilst 9.1% were receiving disability benefits. In terms of transition care, 52% of adult patients had been referred by a paediatric to adult cardiologist with 84% still actively managed by a specialist. Overall, 31% of patients with CHD sought emergency care and required >10 days sick leave in the past 12 months. Moreover, 71% and 55% of patients, respectively, reported recent feelings of anxiety/worry or depressive thoughts related to their CHD (61% sought professional assistance). Consistent with high levels of disruption to daily living, 59% of carer respondents (24%>10 days) had taken carer's leave in the past 12 months. CONCLUSIONS These contemporary, self-reported, Australian data reveal the burden of living and caring for CHD from an adult's perspective. Survey respondents highlighted the potential disconnect between paediatric and adult CHD services and suggest an important, unmet need for dedicated health services/community care to cost-effectively manage high levels of health care utilisation coupled with associated psychological distress.
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Affiliation(s)
- Geoff Strange
- School of Medicine, University of Notre Dame, Freemantle, Perth, WA, Australia.
| | - Simon Stewart
- Hatter Institute, University of Cape Town, Cape Town, South Africa
| | - Melissa Farthing
- Congenital Heart Alliance of Australia and New Zealand, Sydney, NSW, Australia
| | | | | | - Clare O'Donnell
- Green Lane Paediatric and Congenital Heart Service, Starship/Auckland City Hospitals, Auckland, New Zealand
| | - Julian Ayer
- The Heart Centre for Children, The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, NSW, Australia
| | - Rachael Cordina
- Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
| | - David Celermajer
- Faculty of Medicine and Health, University of Sydney, Heart Research Institute, Sydney, NSW, Australia
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34
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Subas T, Luiten R, Hanson-Kahn A, Wheeler M, Caleshu C. Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations. J Genet Couns 2018; 28:10.1007/s10897-018-0297-6. [PMID: 30220053 DOI: 10.1007/s10897-018-0297-6] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/29/2018] [Accepted: 08/22/2018] [Indexed: 01/02/2023]
Abstract
Individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) are advised to avoid certain forms of exercise to reduce their risk of sudden death. Cardiovascular genetic counselors facilitate both adaptation to, and decision-making about, these exercise recommendations. This study describes decision-making and experiences of active adults who exercise above physicians' recommendations. Purposive sampling was used to select adults with HCM and LQTS who self-identified as exercising above recommendations. Semi-structured interviews explored participants' decision-making and the psychological impact of exercise recommendations. Fifteen individuals were interviewed (HCM: 10; LQTS: 5; mean age: 40). Transcripts were coded and analyzed for underlying themes. Despite exercising above recommendations, nearly all participants made some modifications to their prior exercise regimen. Often these decisions changed over time, underscoring the importance of shared decision-making conversations beyond the initial evaluation. The importance of exercise was frequently cited as a reason for continued exercise, as were perceptions of sudden death risk as low, acceptable, or modifiable. Many participants reported that family and friends supported their exercise decisions, with a minority having family or friends that expressed significant reservations. Genetic counselors, cardiologists, and nurses can use these data to inform their counseling regarding exercise recommendations.
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Affiliation(s)
- Trishna Subas
- Maternal Fetal Medicine, Palo Alto Medical Foundation, Palo Alto, CA, USA
| | - Rebecca Luiten
- Clinical Cancer Genetics, Banner MD Anderson Cancer Center, Gilbert, AZ, USA
| | - Andrea Hanson-Kahn
- Genetics and Pediatrics, Stanford University School of Medicine and Stanford Children's Health, Stanford, CA, USA
| | - Matthew Wheeler
- Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
| | - Colleen Caleshu
- Stanford Center for Inherited Cardiovascular Disease, Stanford Healthcare, Stanford, CA, USA.
- Stanford Center for Inherited Cardiovascular Disease, Falk Cardiovascular Research Center, 300 Pasteur Drive, Stanford, CA, 94305-5406, USA.
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35
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Medeiros-Domingo A, Bolliger SA, Gräni C, Rieubland C, Hersch D, Asatryan B, Schyma C, Saguner AM, Wyler D, Bhuiyan Z, Fellmann F, Osculati AM, Ringger R, Fokstuen S, Sabatasso S, Wilhelm M, Michaud K, For the Swiss Working Group on Sudden Cardiac Death. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Swiss Med Wkly 2018; 148:w14638. [DOI: 10.57187/smw.2018.14638] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022] Open
Abstract
There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person’s privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.
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Abstract
PURPOSE OF REVIEW As rapid genetic testing has become increasingly accessible in a timely fashion, more genetic mutations are identified in inherited conditions such as cardiomyopathies. Understanding when to consider genetic testing is an important part of the management of patients whose presentations vary from decompensated heart failure to sudden cardiac death. RECENT FINDINGS We describe the benefits of genetic testing for risk stratification of family members, prognostication of probands, and identification of novel disease-causing mutations and examine the possible role of genetic predisposition in seemingly acquired cardiomyopathies such as peripartum and anthracycline-induced cardiomyopathy. SUMMARY Genetic screening for the recognition of family members who have inherited a cardiomyopathy is important, and testing may identify patients at higher risk of sudden death. However, genetic testing does have its limitations, such as the identification of variants of unknown significance that often complicate the clinical picture.
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Kasparian NA, De Abreu Lourenco R, Winlaw DS, Sholler GF, Viney R, Kirk EPE. Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease. Genet Med 2018; 20:1387-1395. [PMID: 29493584 DOI: 10.1038/gim.2018.16] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/24/2017] [Accepted: 01/18/2018] [Indexed: 11/09/2022] Open
Abstract
PURPOSE As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents' preferences for, and willingness to participate in, clinical genetics services for CHD. METHODS A discrete choice experiment was developed to assess parents' preferences for pediatric cardiogenetics services based on four attributes: appointment format, health professionals involved, waiting time, and information format. Data were analyzed using a mixed logit model. RESULTS One hundred parents with a living child diagnosed with CHD requiring surgical intervention between 2000 and 2009 completed the discrete choice experiment. Parents expressed a clear preference for cardiac genetics services featuring (i) a single appointment, (ii) the presence of a clinical geneticist and a genetic counselor, (iii) both verbal (oral) and Web-based information about CHD and genetics, and (iv) availability of an appointment within 2 weeks. If offered such conditions, 93% of respondents indicated that they would attend. The choice of service was most strongly influenced by the presence of both a clinical geneticist and a genetic counselor. CONCLUSION Parents of children with CHD favor a single, timely genetics appointment with both a geneticist and a genetic counselor present. If appointments offered match these preferences, uptake is likely to be high.
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Affiliation(s)
- Nadine A Kasparian
- Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia. .,Heart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.
| | - Richard De Abreu Lourenco
- Centre for Health Economics Research and Evaluation, University of Technology Sydney, Ultimo, New South Wales, Australia
| | - David S Winlaw
- Heart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.,Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia
| | - Gary F Sholler
- Heart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.,Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia
| | - Rosalie Viney
- Centre for Health Economics Research and Evaluation, University of Technology Sydney, Ultimo, New South Wales, Australia
| | - Edwin P E Kirk
- Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia.,Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia
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Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review. J Genet Couns 2018; 27:1022-1039. [PMID: 29492742 DOI: 10.1007/s10897-018-0225-9] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2017] [Accepted: 01/29/2018] [Indexed: 12/20/2022]
Abstract
Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.
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Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy. J Genet Couns 2018; 27:1040-1048. [DOI: 10.1007/s10897-018-0218-8] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/12/2017] [Accepted: 01/16/2018] [Indexed: 12/14/2022]
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Reuter C, Grove ME, Orland K, Spoonamore K, Caleshu C. Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification. J Genet Couns 2017; 27:751-760. [DOI: 10.1007/s10897-017-0175-7] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/31/2017] [Accepted: 11/07/2017] [Indexed: 01/08/2023]
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Tadros R, Nannenberg EA, Lieve KV, Škorić-Milosavljević D, Lahrouchi N, Lekanne Deprez RH, Vendrik J, Reckman YJ, Postema PG, Amin AS, Bezzina CR, Wilde AA, Tan HL. Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death. JACC Clin Electrophysiol 2017; 3:1400-1408. [DOI: 10.1016/j.jacep.2017.04.005] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2017] [Revised: 03/30/2017] [Accepted: 04/13/2017] [Indexed: 01/25/2023]
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Roston TM, Dewar L, Franciosi S, Hathaway J, Bartels K, Cunningham T, Gibbs KA, Sheps S, Laksman ZWM, Sanatani S, Krahn AD. The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study. J Community Genet 2017; 9:257-262. [PMID: 29170972 DOI: 10.1007/s12687-017-0348-y] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/18/2017] [Accepted: 11/08/2017] [Indexed: 01/01/2023] Open
Abstract
The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey. Of 56 participants, most were physicians (68%) or genetic counselors (19%). Despite working collaboratively, most genetic counselors (59%) were either not satisfied or only somewhat satisfied with their relationships with physicians. Ninety percent of participants were involved in offering genetic evaluation, including 80% who felt that testing was usually/always accessible. Most offered genetic testing to confirm clinical diagnosis and/or direct family screening. Post-mortem genetic analysis was sought by 69% of respondents; however, a lack of retained tissue and/or poor tissue preparation hindered this process. Family screening was usually recommended in the setting of a pathogenic/likely pathogenic variant. The most commonly perceived barrier to genetic testing was cost to the healthcare system. More than a quarter of patients waited ≥ 6 months for funding. An ability to engage at-risk relatives was rated as limited/poor by 34% of participants. Despite the establishment of several interdisciplinary clinics, timely access to affordable testing, supported by strong team communication, continues to be a barrier to genetic testing in Canada.
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Affiliation(s)
- Thomas M Roston
- BC Inherited Arrhythmia Program, Vancouver, BC, Canada.,Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, BC, Canada.,University of Alberta, Edmonton, AB, Canada
| | - Laura Dewar
- Simon Fraser University, Burnaby, BC, Canada
| | - Sonia Franciosi
- Children's Heart Centre, BC Children's Hospital, Vancouver, BC, Canada
| | | | | | - Taylor Cunningham
- Children's Heart Centre, BC Children's Hospital, Vancouver, BC, Canada
| | - Karen A Gibbs
- BC Inherited Arrhythmia Program, Vancouver, BC, Canada
| | - Sam Sheps
- University of British Columbia, Vancouver, BC, Canada
| | - Zachary W M Laksman
- BC Inherited Arrhythmia Program, Vancouver, BC, Canada.,Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, BC, Canada
| | - Shubhayan Sanatani
- BC Inherited Arrhythmia Program, Vancouver, BC, Canada.,Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, BC, Canada.,Children's Heart Centre, BC Children's Hospital, Vancouver, BC, Canada
| | - Andrew D Krahn
- BC Inherited Arrhythmia Program, Vancouver, BC, Canada. .,Heart Rhythm Vancouver, Division of Cardiology, University of British Columbia, Vancouver, BC, Canada. .,Heart Rhythm Vancouver, 211-1033 Davie St, Vancouver, BC, V6E 1M7, Canada.
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Abstract
PURPOSE OF REVIEW Genome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for nongenetic specialists of the processes necessary to generate and interpret clinical genome sequencing. The purpose of this review is to provide a primer on contemporary clinical genome sequencing for nongenetic specialists describing the human genome project, current techniques and applications in genome sequencing, limitations of current technology, and techniques on the horizon. RECENT FINDINGS As currently implemented, genome sequencing compares short pieces of an individual's genome with a reference sequence developed by the human genome project. Genome sequencing may be used for obtaining timely diagnostic information, cancer pharmacogenomics, or in clinical cases when previous genetic testing has not revealed a clear diagnosis. At present, the implementation of clinical genome sequencing is limited by the availability of clinicians qualified for interpretation, and current techniques in used clinical testing do not detect all types of genetic variation present in a single genome. SUMMARY Clinicians considering a genetic diagnosis have wide array of testing choices which now includes genome sequencing. Although not a comprehensive test in its current form, genome sequencing offers more information than gene-panel or exome sequencing and has the potential to replace targeted single-gene or gene-panel testing in many clinical scenarios.
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Richardson E, Spinks C, Davis A, Turner C, Atherton J, McGaughran J, Semsarian C, Ingles J. Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. J Genet Couns 2017; 27:549-557. [DOI: 10.1007/s10897-017-0152-1] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2017] [Accepted: 08/31/2017] [Indexed: 02/08/2023]
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Ingles J, James C. Psychosocial care and cardiac genetic counseling following sudden cardiac death in the young. PROGRESS IN PEDIATRIC CARDIOLOGY 2017. [DOI: 10.1016/j.ppedcard.2017.03.001] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
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Pasipoularides A. Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology. Int J Cardiol 2016; 230:384-401. [PMID: 28057368 DOI: 10.1016/j.ijcard.2016.12.097] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/02/2016] [Revised: 11/27/2016] [Accepted: 12/17/2016] [Indexed: 01/08/2023]
Abstract
For most of Medicine's past, the best that physicians could do to cope with disease prevention and treatment was based on the expected response of an average patient. Currently, however, a more personalized/precise approach to cardiology and medicine in general is becoming possible, as the cost of sequencing a human genome has declined substantially. As a result, we are witnessing an era of precipitous advances in biomedicine and bourgeoning understanding of the genetic basis of cardiovascular and other diseases, reminiscent of the resurgence of innovations in physico-mathematical sciences and biology-anatomy-cardiology in the Renaissance, a parallel time of radical change and reformation of medical knowledge, education and practice. Now on the horizon is an individualized, diverse patient-centered, approach to medical practice that encompasses the development of new, gene-based diagnostics and preventive medicine tactics, and offers the broadest range of personalized therapies based on pharmacogenetics. Over time, translation of genomic and high-tech approaches unquestionably will transform clinical practice in cardiology and medicine as a whole, with the adoption of new personalized medicine approaches and procedures. Clearly, future prospects far outweigh present accomplishments, which are best viewed as a promising start. It is now essential for pluridisciplinary health care providers to examine the drivers and barriers to the clinical adoption of this emerging revolutionary paradigm, in order to expedite the realization of its potential. So, we are not there yet, but we are definitely on our way.
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Affiliation(s)
- Ares Pasipoularides
- Department of Surgery, Duke University School of Medicine, Durham, NC, 27710, USA.
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Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison. Eur J Hum Genet 2016; 25:169-175. [PMID: 27901040 DOI: 10.1038/ejhg.2016.155] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2016] [Revised: 09/07/2016] [Accepted: 10/13/2016] [Indexed: 11/08/2022] Open
Abstract
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC. Uptake and resource use were recorded. For 189 participants, we evaluated quality of care experienced, patient satisfaction and perceived personal control (PPC) using validated questionnaires and estimated the average cost difference of these two modes of care. Maximum patient satisfaction scores were achieved more frequently at the CGC (86% vs 45%, P<0.01). In terms of follow-up care provided, the genetic counsellor did not perform worse than the cardiologist (95% vs 59%, P<0.01). The genetic counsellor more often enquired about the relative-at risk's health (100% vs 65%, P<0.01) and family health (97% vs 33%, P<0.01), measured blood pressure (98% vs 29%, P<0.01) and gave disease-specific information (77% vs 52%, P<0.01). Although PPC scores were equal in both groups, the average cost per patient of CGC follow-up was 25% lower. Follow-up of phenotype-negative relatives at risk for DCM/HCM at a CGC led to greater patient satisfaction and is well-appreciated at lower cost. CGC care is a good alternative to conventional cardiological follow-up for this growing group of patients.
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Murray B. Editorial Commentary: It is all in the family: Multidisciplinary care in inherited heart disease. Trends Cardiovasc Med 2016; 26:654-5. [PMID: 27296522 DOI: 10.1016/j.tcm.2016.05.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/04/2016] [Accepted: 05/06/2016] [Indexed: 10/21/2022]
Affiliation(s)
- Brittney Murray
- Division of Cardiology, Johns Hopkins University, Baltimore, MD.
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