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Mariano L, Nicosia L, Sorce A, Pesapane F, Coppini V, Grasso R, Monzani D, Pravettoni G, Mauri G, Venturini M, Pizzamiglio M, Cassano E. Radiologists' Communicative Role in Breast Cancer Patient Management: Beyond Diagnosis. Healthcare (Basel) 2024; 12:1145. [PMID: 38891220 PMCID: PMC11172385 DOI: 10.3390/healthcare12111145] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2024] [Revised: 05/20/2024] [Accepted: 05/31/2024] [Indexed: 06/21/2024] Open
Abstract
In the landscape of cancer treatment, particularly in the realm of breast cancer management, effective communication emerges as a pivotal factor influencing patient outcomes. This article delves into the nuanced intricacies of communication skills, specifically spotlighting the strategies embraced by breast radiologists. By examining the ramifications of communication on patient experience, interdisciplinary collaboration, and legal ramifications, this study underscores the paramount importance of empathetic and comprehensive communication approaches. A special emphasis is placed on the utilization of the SPIKES protocol, a structured method for conveying sensitive health information, and the deployment of strategies for navigating challenging conversations. Furthermore, the work encompasses the significance of communication with caregivers, the integration of artificial intelligence, and the acknowledgement of patients' psychological needs. By adopting empathetic communication methodologies and fostering multidisciplinary collaboration, healthcare practitioners have the potential to enhance patient satisfaction, promote treatment adherence, and augment the overall outcomes within breast cancer diagnosis. This paper advocates for the implementation of guidelines pertaining to psychological support and the allocation of sufficient resources to ensure the provision of holistic and patient-centered cancer care. The article stresses the need for a holistic approach that addresses patients' emotional and psychological well-being alongside medical treatment. Through thoughtful and empathetic communication practices, healthcare providers can profoundly impact patient experiences and breast cancer journeys in a positive manner.
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Affiliation(s)
- Luciano Mariano
- Breast Imaging Division, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy; (L.M.); (F.P.); (M.P.); (E.C.)
| | - Luca Nicosia
- Breast Imaging Division, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy; (L.M.); (F.P.); (M.P.); (E.C.)
- Department of Biotechnology and Life Sciences, University of Insubria, Via J.H. Dunant, 3, 21100 Varese, Italy
| | - Adriana Sorce
- Postgraduation School in Radiodiagnostics, Faculty of Medicine and Surgery, University of Milan, 20122 Milan, Italy;
| | - Filippo Pesapane
- Breast Imaging Division, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy; (L.M.); (F.P.); (M.P.); (E.C.)
| | - Veronica Coppini
- Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy; (V.C.); (R.G.); (D.M.); (G.P.)
| | - Roberto Grasso
- Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy; (V.C.); (R.G.); (D.M.); (G.P.)
- Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
| | - Dario Monzani
- Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy; (V.C.); (R.G.); (D.M.); (G.P.)
- Laboratory of Behavioral Observation and Research on Human Development, Department of Psychology, Educational Science and Human Movement, University of Palermo, 90128 Palermo, Italy
| | - Gabriella Pravettoni
- Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy; (V.C.); (R.G.); (D.M.); (G.P.)
- Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
| | - Giovanni Mauri
- Division of Interventional Radiology, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy;
| | - Massimo Venturini
- Diagnostic and Interventional Radiology Unit, ASST Settelaghi, Insubria University, 21100 Varese, Italy;
| | - Maria Pizzamiglio
- Breast Imaging Division, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy; (L.M.); (F.P.); (M.P.); (E.C.)
| | - Enrico Cassano
- Breast Imaging Division, IEO, European Institute of Oncology IRCCS, Via Ripamonti, 435, 20141 Milan, Italy; (L.M.); (F.P.); (M.P.); (E.C.)
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Anuk D, Tuncer SB, Özkan M, Yazıcı H. Factors associated with psychological distress during genetic counseling in high-risk women with breast cancer in Turkey. Support Care Cancer 2024; 32:359. [PMID: 38753118 PMCID: PMC11098913 DOI: 10.1007/s00520-024-08573-5] [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: 08/12/2023] [Accepted: 05/13/2024] [Indexed: 05/19/2024]
Abstract
PURPOSE This study aims to shed light on the rather neglected area of research of psychological distress in women facing genetic counselling in Turkey, where few institutions providing such counselling exist. METHODS 105 breast cancer patients presenting for genetic testing completed a sociodemographic and clinical questionnaire as well as validated structured questionnaires including the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI-S/T) and the Health Motivation Sub-dimension of Champion's Health Belief Model Scale. RESULTS 69.5% of the participants had lost a family member from cancer; 80% said the term "cancer" elicited negative thoughts (e.g., death, fear, and incurable disease). 62.9% and 37.1% attributed cancer to stress or sorrow, and genetic susceptibility, respectively. There was a negative association between health motivation and BDI scores (r:-0.433, p < 0.001). Married individuals had higher BDI and STAI-S scores (p = 0.001, p = 0.01 respectively), as well as lower STAI-T scores (p = 0.006). BDI, STAI-S and STAI-T scores were higher in those refusing genetic testing (p < 0.001, p < 0.001, p = 0.003 respectively) and those with metastases (p = 0.03, p = 0.01, p = 0.03 respectively). Furthermore, individuals with low health motivation were more likely to exhibit high BDI scores (p < 0.001) and low STAI-T scores (p = 0.02). CONCLUSION Common perceptions and beliefs about cancer and genetic testing during genetic counselling were found to have a negative impact on distress in high-risk women with breast cancer. The negative relationship between psychological distress and health motivation may reduce patients' compliance with genetic counselling recommendations. A comprehensive psychological evaluation should be considered as an important part of genetic counselling.
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Affiliation(s)
- Dilek Anuk
- Division of Psychosocial Oncology and Education, Department of Preventive Oncology, Oncology Institute, Istanbul University, 34093, Istanbul, Turkey.
| | - Seref Bugra Tuncer
- Division of Cancer Genetics, Department of Basic Oncology, Institute of Oncology, Istanbul University, 34093, Istanbul, Turkey
| | - Mine Özkan
- Division of Consultation Liaison Psychiatry, Istanbul Faculty of Medicine, Istanbul University, 34093, Istanbul, Turkey
| | - Hülya Yazıcı
- Department of Medical Biology, İstanbul Arel University, 34010, Istanbul, Turkey
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Bramanti SM, Trumello C, Lombardi L, Cavallo A, Stuppia L, Antonucci I, Babore A. Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes. World J Psychiatry 2021; 11:189-200. [PMID: 34046315 PMCID: PMC8134867 DOI: 10.5498/wjp.v11.i5.189] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/16/2021] [Revised: 03/28/2021] [Accepted: 04/21/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND An inconclusive result from BRCA1/2 genetic testing indicates that a genetic variant of uncertain significance is detected. This case constitutes the majority of genetic test results, but studies specifically addressing the psychological adjustment of people with inconclusive results are scarce.
AIM To examine psychological outcomes of receiving an uninformative BRCA1/2 test result.
METHODS PubMed, PsychInfo, and Cochrane Central Register of Controlled Trials were screened for studies focusing on distress, anxiety, and depression levels in individuals with inconclusive genetic test results. This review is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses method.
RESULTS Studies on psychological outcomes of inconclusive BRCA1/2 focused on general and specific distress, anxiety, and depression. Overall, they produced mixed results. These inconsistent findings are probably due to the uncertainty caused by this type of result, that may also influence the decisions of individuals about surveillance and prophylactic options, reducing their compliance. In addition, this review highlights specific risk and protective factors that affect psychological adjustment in individuals with an inconclusive genetic testing result.
CONCLUSION Individuals with inconclusive genetic test results need specific educational programs and support to better understand the meaning of their results in order to be able to make decisions about surveillance and prophylactic options.
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Affiliation(s)
- Sonia Monique Bramanti
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Carmen Trumello
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Lucia Lombardi
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Alessandra Cavallo
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Liborio Stuppia
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Ivana Antonucci
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
| | - Alessandra Babore
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University “G. d’Annunzio”, Chieti 66100, Italy
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Rolf B, Blue EE, Bucks S, Dorschner MO, Jayadev S. Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. J Genet Couns 2021; 30:793-802. [PMID: 33393146 DOI: 10.1002/jgc4.1379] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2020] [Revised: 12/07/2020] [Accepted: 12/09/2020] [Indexed: 12/12/2022]
Abstract
Genetic testing has become routine for many inherited conditions; however, little is known about the unique issues that arise when offering genetic testing for inherited forms of dementia. To better understand the patient perspective, we surveyed study participants about their experiences as they underwent genetic counseling and genetic testing for dementia. We recruited 50 pairs of subjects. Each pair was comprised of one person with cognitive impairment and a cognitively intact co-participant. Study participants received pre- and post-test genetic counseling and comprehensive genetic testing for dementia. During the study, participant pairs completed four surveys which asked about their experience. Testing began with a 38 gene dementia panel. Participants with negative panel results or variants of uncertain significance (VUS) were reflexed to exome sequencing (ES). Twenty-nine participants (58%) reported that their primary motivation to join the study was for the benefit to their families. Fifty-two percent of participants initially planned to use their test results to make health and wellness changes, but, six months after disclosure, only 31% had done so. Six months after result disclosure, approximately 90% of participant pairs accurately recalled their genetic test results. Overall satisfaction with testing was high, and decision regret was negligible. This observational study describes the experiences of study participants undergoing genetic counseling and genetic testing for dementia and found that most participant pairs accurately recalled their results up to six months following disclosure while also maintaining high levels of satisfaction without decision regret. These findings suggest that, in the context of genetic counseling, genetic testing can be effectively used in this population.
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Affiliation(s)
- Bradley Rolf
- Department of Neurology, University of Washington, Seattle, WA, USA
| | - Elizabeth E Blue
- Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA
| | - Stephanie Bucks
- Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA
| | - Michael O Dorschner
- Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA
| | - Suman Jayadev
- Department of Neurology, University of Washington, Seattle, WA, USA
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Bartley N, Napier C, Best M, Butow P. Patient experience of uncertainty in cancer genomics: a systematic review. Genet Med 2020; 22:1450-1460. [PMID: 32424175 PMCID: PMC7462749 DOI: 10.1038/s41436-020-0829-y] [Citation(s) in RCA: 23] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2019] [Revised: 04/21/2020] [Accepted: 04/27/2020] [Indexed: 02/07/2023] Open
Abstract
While genomics provides new clinical opportunities, its complexity generates uncertainties. This systematic review aimed to summarize what is currently known about the experience of uncertainty for adult patients undergoing cancer genomic testing. A search of five databases (2001 to 2018) yielded 6508 records. After removing duplicates, abstract/title screening, and assessment of full articles, ten studies were included for quality appraisal and data extraction. Qualitative studies were subjected to thematic analysis, and quantitative data were summarized using descriptive statistics. Cancer genomic results reduced uncertainty for patients regarding treatment decisions but did not reduce uncertainty in the risk context. Qualitative and quantitative data synthesis revealed four themes: (1) coexisting uncertainties, (2) factors influencing uncertainty, (3) outcomes of uncertainty, and (4) coping with uncertainty. Uncertainty can motivate, or be a barrier to, pursuing cancer genomic testing. Appraisal of uncertainty influences the patient experience of uncertainty, the outcome of uncertainty for patients, as well as the coping strategies utilized. While this systematic review found that appraisal of uncertainty is important to the patients' experience of uncertainty in the cancer genomic context, more mixed methods longitudinal research is needed to address the complexities that contribute to patient uncertainty across the process.
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Affiliation(s)
- Nicci Bartley
- School of Psychology, The University of Sydney, Sydney, Australia.
| | - Christine Napier
- Cancer Theme, Garvan Institute of Medical Research, Darlinghurst, Australia
| | - Megan Best
- School of Psychology, The University of Sydney, Sydney, Australia
| | - Phyllis Butow
- School of Psychology, The University of Sydney, Sydney, Australia
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Hamilton JG, Genoff Garzon M, Shah IH, Cadet K, Shuk E, Westerman JS, Hay JL, Offit K, Robson ME. Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test. Public Health Genomics 2020; 23:6-19. [PMID: 32191943 DOI: 10.1159/000505854] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2019] [Accepted: 01/10/2020] [Indexed: 12/15/2022] Open
Abstract
INTRODUCTION Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers' breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed. OBJECTIVE To evaluate patient preferences regarding risk communication materials for GRMT. METHODS We developed four separate presentations (panel of genes, icon array, verbal risk estimate, graphical risk estimate) of hypothetical GRMT results, each using varying risk communication strategies to convey different information elements including number of risk modifier variants present, variant prevalence among BRCA1/2 carriers, and implications and uncertainties of test results for cancer risk. Thirty BRCA1/2 carriers evaluated these materials (randomized to low, moderate, or high breast cancer risk versions). Qualitative and quantitative data were obtained through in-person interviews. RESULTS Across risk versions, participants preferred the presentation of the graphical risk estimate, often in combination with the verbal risk estimate. Interest in GRMT was high; 76.7% of participants wanted their own GRMT. Participants valued the potential for GRMT to clarify their cancer susceptibility and provide actionable information. Many (65.5%) anticipated that GRMT would make risk management decisions easier. CONCLUSIONS Women with BRCA1/2 mutations could be highly receptive to GRMT, and the minimal amount of necessary information to be included in result risk communication materials includes graphical and verbal estimates of future cancer risk. Findings will inform clinical translation of GRMT in a manner consistent with patients' preferences.
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Affiliation(s)
- Jada G Hamilton
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA, .,Department of Psychiatry, Weill Cornell Medical College, Cornell University, New York, New York, USA, .,Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA,
| | - Margaux Genoff Garzon
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Ibrahim H Shah
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Kechna Cadet
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Elyse Shuk
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Joy S Westerman
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Jennifer L Hay
- Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA.,Department of Psychiatry, Weill Cornell Medical College, Cornell University, New York, New York, USA
| | - Kenneth Offit
- Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.,Department of Medicine, Weill Cornell Medical College, Cornell University, New York, New York, USA.,Program in Cell Biology and Genetics, Sloan Kettering Institute, New York, New York, USA
| | - Mark E Robson
- Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.,Department of Medicine, Weill Cornell Medical College, Cornell University, New York, New York, USA
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Lombardi L, Bramanti SM, Babore A, Stuppia L, Trumello C, Antonucci I, Cavallo A. Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature. Support Care Cancer 2019; 27:3647-3656. [PMID: 31203511 DOI: 10.1007/s00520-019-04918-7] [Citation(s) in RCA: 33] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2019] [Accepted: 06/05/2019] [Indexed: 12/14/2022]
Abstract
PURPOSE The primary aim of the present study was to conduct a systematic review of short-, intermediate- and long-term psychological effects, such as anxiety, depression and distress, on individuals undergoing genetic testing to determine BRCA1 and BRCA2 gene mutation. The different instruments used for the measurement of each construct were reported. In addition, risk and protective factors associated with psychological outcomes of genetic tests were explored. METHODS Bibliographic databases were searched for studies published over the period 1998-2018. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method, 21 articles were selected for the current review. RESULTS Overall, the collected data revealed rather diverse results, although most studies reported higher levels of distress, anxiety and depression in carriers, as compared to non-carriers. The two genders were not equally represented, with men constituting only 6% of the sample. Risk factors and protective factors that may influence psychological outcomes and adjustment to genetic tests are highlighted and discussed in this review. CONCLUSIONS The increased risk of developing cancer associated with positive genetic testing results may be experienced as traumatic by many patients, although not all individuals with positive genetic testing results will experience increased distress. Hence, future studies should consider specific risk factors in order to select those who are more likely to be in need of psychological support. Finally, it is necessary to increase the number of male samples to better understand the male experience related to genetic testing outcomes.
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Affiliation(s)
- Lucia Lombardi
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
| | - Sonia M Bramanti
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
| | - Alessandra Babore
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy.
| | - Liborio Stuppia
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
| | - Carmen Trumello
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
| | - Ivana Antonucci
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
| | - Alessandra Cavallo
- Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, University "G. d'Annunzio", via dei Vestini, 31, 66100, Chieti, Italy
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Reuter C, Chun N, Pariani M, Hanson-Kahn A. Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient. J Genet Couns 2019; 28:878-886. [PMID: 31050105 DOI: 10.1002/jgc4.1130] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2018] [Accepted: 03/30/2019] [Indexed: 01/17/2023]
Abstract
Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous association with disease risk and lack of clinical actionability. It is important to understand how patients understand a VUS result, but few studies have assessed this. Our qualitative study explored patient recall, reaction to, and interpretation of a VUS in the context of multigene panels. We conducted 11 semi-structured phone interviews with adults who had a VUS identified on multigene panel testing in a hereditary oncology clinic, with questions focusing on the VUS result, personal and family history, and motivations for and expectations of genetic testing. Transcripts were coded iteratively, using both deductive and inductive codes. Overall, participants usually recalled that they had a VUS, despite variation in the vocabulary used. Participants responded both emotionally and intellectually to receiving information about having a VUS, which was often a result of their expectations and motivations prior to testing. Overall, participants understood the lack of clinical significance of a VUS, yet often interpreted the etiologic significance of a VUS within the context of the personal and family history. Our study provides insight into a process by which patients translate uncertain genetic testing results into a construct that fits within their current belief framework and which may be facilitated by a genetic counselor.
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Affiliation(s)
- Chloe Reuter
- Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, California.,Stanford Center for Undiagnosed Diseases, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, California
| | - Nicolette Chun
- Cancer Genetics and Genomics, Stanford Health Care, Stanford, California
| | - Mitchel Pariani
- Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, California
| | - Andrea Hanson-Kahn
- Department of Genetics, Stanford University School of Medicine, Stanford, California.,Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, California
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Oliveri S, Ferrari F, Manfrinati A, Pravettoni G. A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases. Front Genet 2018; 9:624. [PMID: 30619456 PMCID: PMC6295518 DOI: 10.3389/fgene.2018.00624] [Citation(s) in RCA: 89] [Impact Index Per Article: 12.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2017] [Accepted: 11/23/2018] [Indexed: 11/13/2022] Open
Abstract
Background: Genetic testing is performed for different purposes, such as identifying carriers, predicting a disease onset in presymptomatic individuals or confirming a diagnosis. However, these tests may have notable psychological effects, such as generating anxiety and depression. These effects may depend on people's perception of risk, severity, and controllability of the disease; and the availability of treatments. To date, there are no reports that analyze these factors specifically, and their role in influencing genetic test users' experience. Methods: We performed a systematic review of the psychological implication of undergoing genetic testing for cardiovascular, neurodegenerative and cancer diseases. Articles were searched on PubMed, Google Scholar, and PsychInfo. Results: 47 studies were included, 9 concerning cardiovascular disease, 18 neurodegenerative disorders, and 20 for cancer disease. According to the reviewed studies, people experience no significant increase in distress and anxiety, or adverse impacts on quality of life, except the Huntington disease, which is characterized by depressive symptoms, suicidal ideations, and hopelessness in gene carriers. People tend to consider genetic tests as valid information to take important preventive decisions. Genetic risk for cardiovascular disease is perceived to be manageable; genetic analysis for some neurodegenerative diseases (e.g., Alzheimer) or cancer (breast cancer in particular) is considered useful because the problem could be addressed in advance with preventive behaviors. Conclusions: Genetic tests should be proposed along with proper psychological support and counseling focused on users' genetic health literacy; perception of risk, beliefs about disease controllability, in order to foster fruitful medical decisions.
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Affiliation(s)
- Serena Oliveri
- Department of Oncology and Hematoncology, Interdisciplinary Research Center on Decision Making Processes, University of Milan, Milan, Italy
- Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy
| | - Federica Ferrari
- Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy
| | - Andrea Manfrinati
- Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy
| | - Gabriella Pravettoni
- Department of Oncology and Hematoncology, Interdisciplinary Research Center on Decision Making Processes, University of Milan, Milan, Italy
- Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy
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10
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Hamilton JG, Peshkin BN, Mays D, DeMarco TA, Patenaude AF, Tercyak KP. Maternal perceptions of BRCA genetic counseling communication processes about disclosing cancer risk information to children and adult relatives. Psychooncology 2018; 27:1825-1832. [PMID: 29645321 DOI: 10.1002/pon.4733] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2017] [Revised: 03/27/2018] [Accepted: 04/03/2018] [Indexed: 12/26/2022]
Abstract
OBJECTIVES Using a novel measure, examine maternal perceptions of the process by which issues pertaining to family communication of BRCA test results are addressed during cancer genetic counseling. METHODS After receiving BRCA results, mothers (N = 211) of minor-age children reported on their counseling experiences with providers using a communication process measure as well as other psychosocial variables. RESULTS The novel Genetic Counseling Communication Process measure demonstrated good internal consistency of its 2 factors: patient-led communication (Cronbach's α = 0.73) and provider-led communication (Cronbach's α = 0.82). Participants most often reported that discussions about family communication of BRCA test results to children and adult relatives were led only by their providers (38.2%-39.2%), as opposed to being led by the patient, both parties, or neither party. Providers were most likely to lead these discussions when mothers had stronger family histories of cancer and expressed more confidence about making a decision to talk to their children about BRCA. However, mothers typically led such discussions if they were raising older children and held more positive attitudes about pediatric BRCA testing. CONCLUSIONS When the assessment of BRCA genetic counseling outcomes includes family communication to potentially at-risk relatives, we learned that most but not all sessions addressed this topic. Cancer family history, child age, and maternal attitudes are important co-factors in these patient-provider communication exchanges. Providers delivering BRCA genetic counseling should be attentive to mothers' information and support needs regarding communicating cancer genetic test results to at-risk relatives, including children.
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Affiliation(s)
- Jada G Hamilton
- Department of Psychiatry and Behavioral Sciences; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Beth N Peshkin
- Cancer Prevention and Control Program, Georgetown Lombardi Comprehensive Cancer Center, Washington, DC, USA
| | - Darren Mays
- Cancer Prevention and Control Program, Georgetown Lombardi Comprehensive Cancer Center, Washington, DC, USA
| | - Tiffani A DeMarco
- Cancer Genetics Program, Inova Translational Medicine Institute, Fairfax, VA, USA
| | | | - Kenneth P Tercyak
- Cancer Prevention and Control Program, Georgetown Lombardi Comprehensive Cancer Center, Washington, DC, USA
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Young MA, Forrest LE, Rasmussen VM, James P, Mitchell G, Sawyer SD, Reeve K, Hallowell N. Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks. J Genet Couns 2017; 27:702-708. [PMID: 29168041 DOI: 10.1007/s10897-017-0162-z] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2016] [Accepted: 10/03/2017] [Indexed: 12/22/2022]
Abstract
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) - that combine to increase breast cancer risk. SNP profiling may enhance the accuracy of risk assessment and provides a personalized risk estimate. SNP testing for breast cancer risks may supplement other genetic tests in the future, however, before it can be implemented in the clinic we need to know how it will be perceived and received. Semi-structured qualitative interviews were conducted with 39 women who had previously had a breast cancer diagnosis and undergone BRCA1/2 testing, participated in the Variants in Practice (ViP) study and received personalized risk (SNP) profiles. Interviews explored their understanding and experiences of receiving this SNP information. Women reported feeling positive about receiving their personalized risk profile, because it: provided an explanation for their previous diagnosis of cancer, vindicated previous risk management decisions and clarified their own and other family members' risks. A small group was initially shocked to learn of the increased risk of a second primary breast cancer. This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counseling that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation.
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Affiliation(s)
- Mary-Anne Young
- The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia. .,Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.
| | - Laura Elenor Forrest
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.,Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia
| | | | - Paul James
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.,Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia
| | - Gillian Mitchell
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.,Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia
| | - Sarah Dilys Sawyer
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia.,Department of Pathology, The University of Melbourne, Melbourne, VIC, Australia
| | - Katrina Reeve
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, Australia
| | - Nina Hallowell
- Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK
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12
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Winchester E, Hodgson SV. Psychosocial and Ethical Issues Relating to Genetic Testing for BRCA1 and BRCA2 Breast Cancer Susceptibility Genes. WOMENS HEALTH 2016; 2:357-73. [DOI: 10.2217/17455057.2.3.357] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
Two breast cancer susceptibility genes have been identified, BRCA1 and BRCA2, which when inherited in altered form, confer a substantially increased risk of breast and ovarian cancer. Genetic testing for mutations in the BRCA1 and BRCA2 genes is available to adult men and women at increased risk of carrying such a mutation based on their personal and/or family history of breast and/or ovarian cancer. Testing has profound implications not only for the individual being tested but for their entire family. It is therefore important that the psychosocial and ethical issues are explored through genetic counseling to ensure individuals make informed decisions about testing. Genetic testing may impact on psychological wellbeing, decisions regarding cancer risk management, childbearing and the wider family. Individuals who test positive for a mutation may face ethical dilemmas regarding childbearing and when and how to inform relatives of the genetic information. Female carriers will also face complex and challenging decisions concerning cancer risk management.
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Affiliation(s)
- E Winchester
- St. Georges Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK,
| | - Shirley V Hodgson
- St. Georges Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK,
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13
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When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer. Eur J Hum Genet 2016; 24:1517-1523. [PMID: 27329735 DOI: 10.1038/ejhg.2016.69] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2015] [Revised: 03/12/2016] [Accepted: 05/20/2016] [Indexed: 12/25/2022] Open
Abstract
Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.
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14
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Ringwald J, Wochnowski C, Bosse K, Giel KE, Schäffeler N, Zipfel S, Teufel M. Psychological Distress, Anxiety, and Depression of Cancer-Affected BRCA1/2 Mutation Carriers: a Systematic Review. J Genet Couns 2016; 25:880-91. [PMID: 27074860 DOI: 10.1007/s10897-016-9949-6] [Citation(s) in RCA: 66] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2015] [Accepted: 03/18/2016] [Indexed: 12/12/2022]
Abstract
Understanding the intermediate- and long-term psychological consequences of genetic testing for cancer patients has led to encouraging research, but a clear consensus of the psychosocial impact and clinical routine for cancer-affected BRCA1 and BRCA2 mutation carriers is still missing. We performed a systematic review of intermediate- and long-term studies investigating the psychological impact like psychological distress, anxiety, and depression in cancer-affected BRCA mutation carriers compared to unaffected mutation carriers. This review included the screening of 1243 studies. Eight intermediate- and long-term studies focusing on distress, anxiety, and depression symptoms among cancer-affected mutation carriers at least six months after the disclosure of genetic testing results were included. Studies reported a great variety of designs, methods, and patient outcomes. We found evidence indicating that cancer-affected mutation carriers experienced a negative effect in relation to psychological well-being in terms of an increase in symptoms of distress, anxiety, and depression in the first months after test disclosure. In the intermediate- and long-term, no significant clinical relevant symptoms occurred. However, none of the included studies used specific measurements, which can clearly identify psychological burdens of cancer-affected mutation carriers. We concluded that current well-implemented distress screening instruments are not sufficient for precisely identifying the psychological burden of genetic testing. Therefore, future studies should implement coping strategies, specific personality structures, the impact of genetic testing, supportive care needs and disease management behaviour to clearly screen for the possible intermediate- and long-term psychological impact of a positive test disclosure.
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Affiliation(s)
- Johanna Ringwald
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany.
- Comprehensive Cancer Center, University Hospital Tuebingen, Tuebingen, Germany.
| | - Christina Wochnowski
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany
| | - Kristin Bosse
- Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany
- Department of Obstetrics and Gynecology, University Hospital Tuebingen, Tuebingen, Germany
| | - Katrin Elisabeth Giel
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany
| | - Norbert Schäffeler
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany
- Comprehensive Cancer Center, University Hospital Tuebingen, Tuebingen, Germany
| | - Stephan Zipfel
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany
- Comprehensive Cancer Center, University Hospital Tuebingen, Tuebingen, Germany
| | - Martin Teufel
- Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VI, University Hospital Tuebingen, Osianderstrasse 5, 72076, Tuebingen, Germany
- Comprehensive Cancer Center, University Hospital Tuebingen, Tuebingen, Germany
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15
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Baars JE, Bleiker EMA, van Riel E, Rodenhuis CC, Velthuizen ME, Schlich KJ, Ausems MGEM. Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact. Clin Genet 2014; 85:524-31. [PMID: 24372530 DOI: 10.1111/cge.12335] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2013] [Revised: 12/18/2013] [Accepted: 12/18/2013] [Indexed: 01/03/2023]
Abstract
Genetic counseling and DNA testing (GCT) for breast cancer is increasingly being actively offered to newly diagnosed patients. Little is known about the consequences of such an approach. Therefore, the long-term psychosocial and medical impact of referring breast cancer patients for GCT during an early phase of treatment was studied. A group of 112 breast cancer patients who had been actively offered GCT during adjuvant radiotherapy 7-14 years earlier, returned a self-report questionnaire. We compared their experiences with a group of 127 breast cancer patients who had not met the criteria for GCT. In total, 239 women participated in this long-term follow-up study (72% response rate). Nearly 75% of them had received regular mammography surveillance in the past 3 years. Preventive surgery was reported more often in the counseling group (specifically in the BRCA1/2 mutation carriers). Like the comparative group, only a minority of patients who had received GCT were experiencing high levels of depression (5%) or psychological distress (14%). Breast cancer patients can be actively approached and referred for GCT at the beginning of their radiotherapy without a threat to psychological functioning in the long term.
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Affiliation(s)
- J E Baars
- Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
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16
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Brédart A, Kop JL, Depauw A, Caron O, Sultan S, Leblond D, Fajac A, Buecher B, Gauthier-Villars M, Noguès C, Flahault C, Stoppa-Lyonnet D, Dolbeault S. Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer. Br J Cancer 2013; 108:1012-20. [PMID: 23462725 PMCID: PMC3619058 DOI: 10.1038/bjc.2012.599] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/01/2023] Open
Abstract
Background: The effect of BRCA1/2 gene test result on anxiety, depression, cancer-related thought intrusion or avoidance and perceived control over cancer risk was assessed in breast cancer (BC) patients, according to their perceived probability of genetic predisposition to cancer. Methods: Two hundred and forty-three (89% response rate) women with BC completed questionnaires after an initial genetic counselling visit (T1), of which 180 (66%) completed questionnaires again after receiving the BRCA1/2 results (T2). The discrepancy between women's perceived probability of cancer genetic predisposition at T1 and the geneticist's computed estimates was assessed. Results: In all, 74% of women received a negative uninformative (NU), 11% a positive BRCA1/2 and 15% an unclassified variant (UV) result. On hierarchical regression analysis, in women with a positive BRCA1/2 result (vs NU or UV), a lower perceived probability of cancer genetic predisposition than objective estimates at T1 predicted lower levels of anxiety at T2 (β=−0.28; P<0.01), whereas in women receiving a UV result (vs NU or positive BRCA1/2), a lower perceived probability of cancer genetic predisposition than objective estimates at T1 predicted higher levels of anxiety (β=0.20; P<0.01), depression (β=0.19; P<0.05) and intrusion (β=0.18; P<0.05) at T2. Conclusion: The type of BRCA1/2 test result differently affects distress according to women's perceived probability of genetic predisposition before testing.
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Affiliation(s)
- A Brédart
- Supportive Care Department, University Paris Descartes, Paris, France.
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17
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Hurley K, Rubin LR, Werner-Lin A, Sagi M, Kemel Y, Stern R, Phillips A, Cholst I, Kauff N, Offit K. Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences. Cancer 2012; 118:6270-7. [PMID: 22736296 PMCID: PMC4910088 DOI: 10.1002/cncr.27695] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/26/2012] [Revised: 05/11/2012] [Accepted: 05/14/2012] [Indexed: 01/12/2023]
Abstract
BACKGROUND Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally charged risk information. METHODS A total of 33 carriers of the BRCA1/2 mutation who were of reproductive age and had previously undergone genetic counseling viewed a tutorial regarding PGD and were interviewed concerning their attitudes toward PGD and preferences about how to include PGD information in genetic counseling. RESULTS The majority of participants preferred to be briefly informed of the availability of PGD information, and to receive written materials regarding PGD, but with the option of deferring detailed discussion if they already believed themselves to be overloaded or perceived that PGD was not immediately relevant to their risk management and/or childbearing plans. For some individuals, the stress of testing temporarily interfered with information processing, producing states of cognitive avoidance ("in a fog," or "tuning out"). Some preferred to discuss PGD with a physician with whom they had an ongoing relationship (eg, obstetrician/gynecologist, primary care provider, or oncologist). CONCLUSIONS Providers offering cancer genetic testing may consider indicating the availability of PGD information to their patients, while attending to the patients' level of interest and ability to absorb information. Research is needed to link patient responses to information overload with psychosocial outcomes (eg, distress, and quality of decision-making). Continuing medical education is needed to support providers in facilitating informed decisions regarding PGD.
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Affiliation(s)
- Karen Hurley
- Department of Psychiatry and Behavioral Science, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
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18
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What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure? Breast 2012; 21:755-60. [PMID: 22381151 DOI: 10.1016/j.breast.2012.02.004] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2011] [Revised: 01/27/2012] [Accepted: 02/05/2012] [Indexed: 11/20/2022] Open
Abstract
Genetic testing for breast cancer predisposition has been available in the clinical practice for more than a decade. How the result of genetic testing affects the psychological well-being of the individuals is an under-researched area in many populations. Follow-up analysis of psychological well-being via HADS scale was performed in 364 individuals at 3 months and 1 year after the disclosure of BRCA1/2 genetic result. We analyzed potential predictors for pathological anxiety and variables associated to the variation of HADS scores over time. At pre-test only 16% and 4% of individuals presented symptoms of anxiety and depression, respectively. Having a prior diagnosis of cancer and presenting a pathological HADS-A score at the baseline were associated with clinically significant anxiety scores at one year, but the genetic test result was not. Thus, BRCA genetic testing does not influence short and long term anxiety and depression levels among those identified as mutation carriers. It is our task to demystify the allegedly negative impact of BRCA testing on psychological well being to increase the uptake of genetic testing and benefit those who are at high risk of developing breast, ovarian and prostate cancer.
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19
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Nordin K, Roshanai A, Bjorvatn C, Wollf K, Mikkelsen EM, Bjelland I, Kvale G. Is genetic counseling a stressful event? Acta Oncol 2011; 50:1089-97. [PMID: 21864049 PMCID: PMC3205818 DOI: 10.3109/0284186x.2011.604343] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
Abstract
Purpose. The aim of this paper was to investigate whether cancer genetic counseling could be considered as a stressful event and associated with more anxiety and/or depression compared to other cancer-related events for instance attending mammography screening or receiving a cancer diagnosis. Methods. A total of 4911 individuals from three Scandinavian countries were included in the study. Data was collected from individuals who had attended either cancer genetic counseling (self-referred and physician-referred) or routine mammography screening, were recalled for a second mammograpy due to a suspicious mammogram, had received a cancer diagnosis or had received medical follow-up after a breast cancer-surgery. Data from the genetic counseling group was also compared to normative data. Participants filled in the Hospital Anxiety and Depression Scale twice: prior to a potentially stressful event and 14 days after the event. Results. Pre-counseling cancer genetic counselees reported significant lower level of anxiety compared to the cancer-related group, but higher levels of anxiety compared to the general population. Furthermore, the level of depression observed within the genetic counseling group was lower compared to other participants. Post-event there was no significant difference in anxiety levels between the cancer genetic counselees and all other groups; however, the level of depression reported in the self-referred group was significantly lower than observed in all other groups. Notably, the level of anxiety and depression had decreased significantly from pre-to post-events within the genetic counseling group. In the cancer-related group only the level of anxiety had decreased significantly post-event. Conclusion. Individuals who attend cancer genetic counseling do not suffer more anxiety or depression compared to all other cancer-related groups. However, some counselees might need additional sessions and extended support. Thus, identifying extremely worried individuals who need more support, and allocating further resources to their care, seems to be more sufficient.
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Affiliation(s)
- Karin Nordin
- Department of Public Health and Caring Sciences, Uppsala University, Sweden
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20
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Vos J, Oosterwijk JC, Gómez-García E, Menko FH, Jansen AM, Stoel RD, van Asperen CJ, Tibben A, Stiggelbout AM. Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results. Clin Genet 2010; 79:207-18. [DOI: 10.1111/j.1399-0004.2010.01581.x] [Citation(s) in RCA: 34] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
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21
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Roussi P, Sherman KA, Miller S, Buzaglo J, Daly M, Taylor A, Ross E, Godwin A. Enhanced counselling for women undergoing BRCA1/2 testing: Impact on knowledge and psychological distress-results from a randomised clinical trial. Psychol Health 2010; 25:401-15. [PMID: 20204945 DOI: 10.1080/08870440802660884] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
Abstract
This randomised controlled trial evaluated the impact of an enhanced counselling (EC) intervention on knowledge about the heritability of breast and ovarian cancer and distress, as a function of BRCA test result, among high-risk women. Before deciding about whether or not to undergo genetic testing, participants were randomly assigned to the EC intervention (N = 69), designed to promote cognitive and affective processing of cancer risk information (following the standard individualised counselling session), or to the control condition (N = 65), which involved standard individualised counselling followed by a general health information session to control for time and attention. Women in the EC group exhibited greater knowledge than women in the control group, 1 week after the intervention. Further, at the affective level, the intervention was found to be the most beneficial for women testing positive: specifically 1 week after test result disclosure, women in the intervention group who tested positive experienced lower levels of distress than women in the control group who tested positive. The findings suggest that the design of counselling aids should include a component that explicitly activates the individual's cognitive-affective processing system.
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Affiliation(s)
- Pagona Roussi
- Department of Psychology, Aristotle University of Thessaloniki, Thessaloniki, Greece
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22
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Vansenne F, Bossuyt PMM, de Borgie CAJM. Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review. Genet Test Mol Biomarkers 2010; 13:555-63. [PMID: 19645624 DOI: 10.1089/gtmb.2009.0029] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022] Open
Abstract
Most research on the effects of genetic testing is performed in individuals at increased risk for a specific disease (presymptomatic subjects) but not in patients already affected by disease. If results of these studies in presymptomatic subjects can be applied to patients is unclear. We performed a systematic review to evaluate the effects of genetic testing in patients and describe the methodological instruments used. About 2611 articles were retrieved and 16 studies included. Studies reported great variety in designs, methods, and patient outcomes. In total, 2868 participants enrolled of which 62% were patients. Patients appeared to have a lower perceived general health and higher levels of anxiety and depression than presymptomatic subjects before genetic testing. In the long term no psychological impairment was shown. We conclude that patients differ from presymptomatic subjects and may be more vulnerable to negative effects of genetic testing. Conclusions from earlier research on presymptomatic genetic testing cannot be generalized to patients, and more standardized research is needed.
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Affiliation(s)
- Fleur Vansenne
- Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
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23
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Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic. Genet Med 2009; 11:742-9. [DOI: 10.1097/gim.0b013e3181b2e608] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
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24
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Van Riel E, Wárlám-Rodenhuis CC, Verhoef S, Rutgers EJTH, Ausems MGEM. BRCA testing of breast cancer patients: medical specialists' referral patterns, knowledge and attitudes to genetic testing. Eur J Cancer Care (Engl) 2009; 19:369-76. [PMID: 19659662 DOI: 10.1111/j.1365-2354.2008.01065.x] [Citation(s) in RCA: 41] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2023]
Abstract
This study explores knowledge about hereditary breast cancer, attitudes about BRCA testing and referral pattern to a family cancer clinic among medical specialists. A total of 92 questionnaires were completed by surgeons (38), medical oncologists (29), radiation oncologists (13) and radiologists (12). The response rate was 51%. A substantial (11-56%) proportion of medical specialists do not refer patients who meet current criteria for BRCA testing. Although questions on inheritance were less well answered, overall knowledge was good. They had a positive attitude, but were concerned about the distress DNA testing might cause to family members. The majority (75%) stated that the best time for referral is after adjuvant therapy or during follow-up, but another important determinant was the patient's wish or need (12%). Further studies are needed to gain insight into the actual referral process, while ongoing training of medical specialists about genetic aspects of breast cancer is also necessary.
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Affiliation(s)
- E Van Riel
- Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
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25
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Dagan E, Shochat T. Quality of life in asymptomatic BRCA1/2 mutation carriers. Prev Med 2009; 48:193-6. [PMID: 19084553 DOI: 10.1016/j.ypmed.2008.11.007] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/11/2008] [Revised: 10/23/2008] [Accepted: 11/17/2008] [Indexed: 11/25/2022]
Abstract
OBJECTIVE To investigate the association between positive genetic diagnosis for BRCA1/2 mutations and Health-Related Quality of Life (HR-QOL) in Ashkenazi asymptomatic women. METHODS Socio-demographic, clinical, psychological and HR-QOL questionnaires were completed by 73 women, including 17 asymptomatic BRCA1/2 carriers and 20 non-carriers from the oncogenetic clinic at Rambam Health Care Campus in Israel; and 36 low-risk controls from the community, between January 2006 to November 2007. RESULTS Impaired HR-QOL was demonstrated in BRCA1/2 carriers compared to non-carriers and controls in the role limitation due to emotional problems subscale. When stratified by women free of menopausal symptoms and controlling for education level, this subscale remained significant, and likewise both physical functioning and overall HR-QOL scores were significantly lower in BRCA1/2 carriers. CONCLUSIONS Our results suggest that BRCA1/2 carriers are prone to experience deficits in HR-QOL, especially in mental aspects affecting role functioning.
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Affiliation(s)
- Efrat Dagan
- Department of Nursing, University of Haifa, Israel.
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26
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Crotser CB, Boehmke M. Survivorship considerations in adults with hereditary breast and ovarian cancer syndrome: state of the science. J Cancer Surviv 2009; 3:21-42. [PMID: 19165605 DOI: 10.1007/s11764-008-0077-7] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2008] [Accepted: 12/08/2008] [Indexed: 11/24/2022]
Abstract
INTRODUCTION Five to 10% of breast cancers are caused by inherited mutations of the BRCA1/2 genes. Knowledge of inherited risk for cancer has potential for psychosocial consequences. The purpose of this review is to determine the survivorship concerns of women with mutations of BRCA1/2; with and without a diagnosis of cancer. METHODS The search strategy included a search of CINAHL, PsycINFO, Medline, Pubmed, and Cochrane databases to identify research reports with specific aims of determining physical, psychosocial or spiritual outcomes of genetic testing for breast and ovarian cancer syndrome in adults at high risk for BRCA1/2 mutations. The identified studies were analyzed by design, sampling, and outcome measures. They were categorized by domain and main findings by domain are summarized. RESULTS One systematic review, ten qualitative and 27 quantitative studies met the inclusion criteria. Four theoretical frameworks were identified. DISCUSSION/CONCLUSIONS Survivorship concerns were multidimensional and included issues related to risk reduction procedures, psychological and emotional impacts, and impact on family and social relationships. Many adults experience temporary distress after receipt of positive BRCA1/2 testing. Usually the distress is not clinically significant, however support is desired from health professionals, others who have a BRCA1/2 mutation, and family as decisions are made regarding screening and risk-reducing options. Social relationships are impacted as information is communicated to family members. Limitations of the current state of the science, opportunities to build evidence for the future and implications for nursing practice and education are identified.
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27
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Are patient rights to information and self-determination in diagnostic genetic testing upheld? A comparison of patients' and providers' perceptions. J Genet Couns 2008; 18:72-81. [PMID: 18979191 DOI: 10.1007/s10897-008-9190-z] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/06/2007] [Accepted: 09/04/2008] [Indexed: 10/21/2022]
Abstract
This study assessed how the patient's right to receive information and the right to self-determination were followed during diagnostic testing, according to the perceptions of patients and parents of tested children (group 1, n = 106) and healthcare personnel (group 2, n = 162). Data were collected in three Finnish university hospitals using a questionnaire. Results revealed one between group difference: patients/parents agreed more strongly than did personnel that self-determination was followed before testing. Within groups included: patients/parents had stronger agreement that self-determination was followed before testing than after testing; personnel had stronger agreement about information received after testing than before testing, and they had weaker agreement about how well self-determination was followed before testing than after testing. Received information was experienced as similar both before and after testing and by patients/parents and by personnel. Providing adequate time to consider whether or not to be tested and giving more support to patients after testing would promote the rights of patients. Furthermore, assessment of personnel characteristics is needed to determine, for example, the kinds of value conflicts that exist between personnel's own values and patients' values.
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Vos J, Otten W, van Asperen C, Jansen A, Menko F, Tibben A. The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life. Psychooncology 2008; 17:822-30. [DOI: 10.1002/pon.1311] [Citation(s) in RCA: 98] [Impact Index Per Article: 5.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Geirdal AØ, Dahl AA. The relationship between coping strategies and anxiety in women from families with familial breast-ovarian cancer in the absence of demonstrated mutations. Psychooncology 2008; 17:49-57. [PMID: 17385192 DOI: 10.1002/pon.1198] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
Abstract
This is a cross-sectional study of coping strategies in 174 healthy women who fulfill clinical criteria for familial breast/ovarian cancer in the absence of demonstrated mutations (ADM) compared to 68 healthy women with BRCA1 carrier status. Both groups got a mailed questionnaire after genetic counseling and testing, respectively. The questionnaire included demographic and cancer-related variables as well as the Hospital Anxiety and Depression Scale (HADS) and the Coping Orientation to Problems Experienced Scale (COPE). In both groups 24% of the women had an anxiety disorder. Coping strategies which helped the women to accept and make the best out of their situation were most frequently applied in both the ADM and the carrier groups. Compared to the carrier group, the ADM group had higher mean levels on both emotion-focused and problem-focused strategies. The emotion-focused strategies were all significantly associated with presence of HADS-defined anxiety disorder in the ADM group. In the carrier group problem-focused strategies were significantly associated with increased prevalence of such anxiety disorder. In multivariate analysis 'focus on emotions' was significantly associated with increased prevalence of HADS-defined anxiety disorder in both groups, and 'acceptance' was associated with reduced prevalence in both groups.
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Affiliation(s)
- Amy Østertun Geirdal
- Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, University of Oslo, Oslo, Norway.
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Reichelt JG, Møller P, Heimdal K, Dahl AA. Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. Fam Cancer 2008; 7:245-54. [PMID: 18219587 DOI: 10.1007/s10689-008-9182-z] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2007] [Accepted: 01/11/2008] [Indexed: 10/22/2022]
Abstract
AIM The aim of this longitudinal study was to explore both levels of and factors predictive of psychological and cancer-specific distress in women with demonstrated BRCA1 mutations belonging to families with hereditary breast/ovarian cancer (HBOC). METHODS We included 214 women from HBOC families who had BRCA1 testing, and who were examined with a mailed questionnaire at pre-test (T1), 6 weeks after getting the test result (T2) and 18 months later (T3). Self-rating instruments for psychological distress, cancer-specific distress and personality traits were used. RESULTS Hardly any significant changes were observed concerning the levels of psychological and cancer-specific distress from T1 via T2 to T3 for the total group or those with carrier or non-carrier status, while women with cancer had a significant reduction of cancer-specific distress over time. The pre-test levels of psychological and cancer-specific distress were significant and strong predictors of these types of distress at T3. The personality trait of neuroticism made a significant contribution to both types of distress at pre-test, and a small separate contribution to distress at T3. Carrier status, history of personal cancer, pre-test levels of optimism or multidimensional health locus of control did not significantly predict distress at T3. CONCLUSIONS Genetic testing or test results were not found to induce psychological or cancer-specific psychological distress at long-term. Neuroticism had a decisive influence at both pre-test and long-term levels of distress.
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Affiliation(s)
- Jon G Reichelt
- Section for Hereditary Cancer, Department for Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, 0310, Oslo, Norway.
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Scully JL, Porz R, Rehmann-Sutter C. 'You don't make genetic test decisions from one day to the next'--using time to preserve moral space. BIOETHICS 2007; 21:208-17. [PMID: 17845479 DOI: 10.1111/j.1467-8519.2007.00546.x] [Citation(s) in RCA: 26] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/17/2023]
Abstract
The part played by time in ethics is often taken for granted, yet time is essential to moral decision making. This paper looks at time in ethical decisions about having a genetic test. We use a patient-centred approach, combining empirical research methods with normative ethical analysis to investigate the patients' experience of time in (i) prenatal testing of a foetus for a genetic condition, (ii) predictive or diagnostic testing for breast and colon cancer, or (iii) testing for Huntington's disease (HD). We found that participants often manipulated their experience of time, either using a stepwise process of microdecisions to extend it or, under the time pressure of pregnancy, changing their temporal 'depth of field'. We discuss the implications of these strategies for normative concepts of moral agency, and for clinical ethics.
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Affiliation(s)
- Jackie Leach Scully
- School of Geography, Politics and Sociology, Newcastle University, 5th floor Claremont Bridge, Claremont Road, Newcastle upon Tyne NE1 7RU, United Kingdom.
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Schlich-Bakker KJ, ten Kroode HFJ, Ausems MGEM. A literature review of the psychological impact of genetic testing on breast cancer patients. PATIENT EDUCATION AND COUNSELING 2006; 62:13-20. [PMID: 16242293 DOI: 10.1016/j.pec.2005.08.012] [Citation(s) in RCA: 66] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/07/2005] [Revised: 08/23/2005] [Accepted: 08/25/2005] [Indexed: 05/05/2023]
Abstract
OBJECTIVE Easier access and increased awareness results in more referral for genetic testing for hereditary breast cancer in healthy at-risk women and breast cancer patients. To investigate the psychological impact of genetic testing on breast cancer patients, literature pertaining to this group was reviewed. METHOD Medline and PsychInfo databases were searched over the period 1995-2004 for studies aimed at breast cancer patients referred for genetic testing. Qualitative and quantitative psychological outcome measures were identified. RESULTS Eight papers were identified focusing on women affected by breast cancer and undergoing genetic counseling and DNA testing. CONCLUSION Genetic testing does not lead to an increase in psychological distress in breast cancer patients. However, a recent breast cancer diagnosis adds to general and cancer-specific distress prior to genetic counseling and after DNA test disclosure. PRACTICE IMPLICATIONS Clinicians need to be aware of possible high psychological distress and additional counseling needs of recently diagnosed breast cancer patients taking part in genetic testing. Further research should focus on patients who decline genetic counseling or receive an inconclusive test result, including age upon and time since diagnosis.
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Meiser B. Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology 2006; 14:1060-74. [PMID: 15937976 DOI: 10.1002/pon.933] [Citation(s) in RCA: 217] [Impact Index Per Article: 11.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/22/2023]
Abstract
This article presents an overview of the rapidly evolving body of literature on the psychological impact of genetic testing for hereditary breast/ovarian cancer susceptibility, hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). Uptake of genetic testing for BRCA1/2 and HNPCC-related mutations is more consistently related to psychological factors, rather than sociodemographic variables. Most studies on the psychological impact of genetic testing amongst individuals who have never been affected by cancer demonstrate that non-carriers derive significant psychological benefits from genetic testing, while no adverse effects have been observed amongst carriers. These benefits are more clear-cut for HNPCC, compared to hereditary breast/ovarian cancer, reflecting differences in risk management options. The few studies available on individuals affected with cancer indicate that the impact of genetic testing is mediated and amplified by their former experience of cancer. Future directions and challenges of research in this area are reviewed. In particular, more empirical data are needed on the broader impact of genetic testing on those with inconclusive results or results of uncertain significance. As genetic testing is becoming available for other types of familial cancer, additional investigations will be needed as there is evidence to suggest that the impact of genetic testing may be unique to each type of familial cancer.
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Affiliation(s)
- Bettina Meiser
- Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia.
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Claes E, Evers-Kiebooms G, Denayer L, Decruyenaere M, Boogaerts A, Philippe K, Legius E. Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure. J Genet Couns 2005; 14:349-63. [PMID: 16195942 DOI: 10.1007/s10897-005-1371-4] [Citation(s) in RCA: 57] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2023]
Abstract
This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.
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Affiliation(s)
- E Claes
- Psychosocial Genetics Unit, Center for Human Genetics, University of Leuven, Belgium
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