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Tschigg K, Consoli L, Brüggemann N, Hicks AA, Staunton C, Mascalzoni D, Biasiotto R. How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study. J Community Genet 2024; 15:615-630. [PMID: 39325315 PMCID: PMC11645387 DOI: 10.1007/s12687-024-00733-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2024] [Accepted: 09/04/2024] [Indexed: 09/27/2024] Open
Abstract
Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers' and study personnel's experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6%) wanted to know their carrier status for personal and collective benefit. Tailored disclosure strategies and transparent, effective, and well-thought-out communication approaches were advocated by study personnel (Step 2, N = 6) and researchers (Step 3, N = 7). Challenges in dealing with uncertainty, concerns caused by RbG invitations, and the possibility of misunderstanding were also raised. In step 4 (N = 369), participants valued being informed of study details at the first invitation stage, and generally felt comfortable towards RbG study invitations (58.5%) and to receiving genetic information after the study (58.5-81.6%). Comfort and perceived impact of disclosure of genetic information varied according to the type of variant being potentially disclosed. This study suggested designing communication strategies, based on clear and understandable explanations, sensitive to participant expectations and preferences, developing case-by-case solutions for disclosure.
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Affiliation(s)
- Katharina Tschigg
- Department of Cellular, Computational, and Integrative Biology, University of Trento, Trento, Italy
- Institute for Biomedicine, Eurac Research, Bolzano, Italy
| | - Luca Consoli
- Institute for Science in Society, Radboud University, Nijmegen, Netherlands
| | - Norbert Brüggemann
- Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany
- Institute of Neurogenetics, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany
| | - Andrew A Hicks
- Institute for Biomedicine, Eurac Research, Bolzano, Italy
| | - Ciara Staunton
- Institute for Biomedicine, Eurac Research, Bolzano, Italy
- School of Law, University of KwaZulu-Natal, Durban, South Africa
| | - Deborah Mascalzoni
- Institute for Biomedicine, Eurac Research, Bolzano, Italy.
- Center for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
| | - Roberta Biasiotto
- Institute for Biomedicine, Eurac Research, Bolzano, Italy
- Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
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Ley C, Duan H, Parsonnet J. Recruitment into antibody prevalence studies: a randomized trial of postcards vs. letters as invitations. BMC Med Res Methodol 2023; 23:170. [PMID: 37481522 PMCID: PMC10363298 DOI: 10.1186/s12874-023-01992-8] [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: 02/03/2023] [Accepted: 07/13/2023] [Indexed: 07/24/2023] Open
Abstract
BACKGROUND In a potential epidemic of an emerging infection, representative population-based serologic studies are required to determine the extent of immunity to the infectious agent, either from natural infection or vaccination. Recruitment strategies need to optimize response rates. METHODS Within a seroepidemiologic study to determine the true burden of SARS-CoV2 infection in two Bay Area counties, we evaluated whether letter (L) or postcard (P) invitations with reminders were more effective at recruiting participant households. Using geographic, probability-based sampling, 9,999 representative addresses, split between Santa Clara and Solano counties, were randomized to receive an initial invitation (L or P); a randomized reminder mailing sent two weeks later to all non-respondents created four mailing type groups (L/L, L/P, P/L, P/P). Interested households provided contact information via survey to perform blood spot collection at home for testing and then receive SARS-CoV2 serology results. Comparison of demographics among respondents and non-respondents used census tract data. RESULTS Receiving any reminder mailing increased household response rates from 4.2% to between 8-13% depending on mailing combination. Response rates from two letters were 71% higher than from two postcards (13.2% vs. 7.7%, OR = 1.83 [95% CI: 1.5-2.2]). Respondents were older, more educated and more likely white than non-respondents. Compared to Solano county, Santa Clara county had different demographics and increased household response rates (L/L: 15.7% vs 10.7%; P/P: 9.2% vs. 6.1%; p < 0.0001); the effect of mailing types, however, was the same (L/L vs. P/P: Santa Clara: OR = 1.83 [95% CI: 1.4-2.3]; Solano: OR = 1.84 [95% CI:1.4-2.5]). CONCLUSION Letters, as both invitations and reminders, are a more effective recruitment tool than postcards and should be considered when seeking a representative population-based sample for serological testing.
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Affiliation(s)
- Catherine Ley
- Division of Infectious Diseases and Geographic Medicine, Department of Medicine, Stanford University, 300 Pasteur Drive, Stanford, CA, 94305, USA.
| | - Heying Duan
- Division of Nuclear Medicine and Molecular Imaging, Department of Radiology, Stanford University, Stanford, USA
| | - Julie Parsonnet
- Division of Infectious Diseases and Geographic Medicine, Department of Medicine, Stanford University, 300 Pasteur Drive, Stanford, CA, 94305, USA
- Department of Epidemiology & Population Health, Stanford University, Stanford, USA
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Tschigg K, Consoli L, Biasiotto R, Mascalzoni D. Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review. Eur J Hum Genet 2022; 30:1000-1010. [PMID: 35705790 PMCID: PMC9437022 DOI: 10.1038/s41431-022-01120-y] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2021] [Revised: 03/17/2022] [Accepted: 05/05/2022] [Indexed: 11/29/2022] Open
Abstract
Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-driven research approaches. The recall strategies disclose or withhold personal genotypic information with uncertain clinical utility. Accordingly, this scoping review aims to identify peculiar, explicit and implicit ethical, legal, and societal/social implications (ELSI) of RbG study designs. We conducted a systematic literature search of three electronic databases from November 2020 to February 2021. We investigated qualitative and quantitative research methods used to report ELSI aspects in RbG research. Congruent with other research findings, we identified a lack of qualitative research investigating the particular ELSI challenges with RbG. We included and analysed the content of twenty-five publications. We found a consensus on RbG posing significant ethical issues, dilemmas, barriers, concerns and societal challenges. However, we found that the approaches to disclosure and study-specific recall and communication strategies employed consent models and Return of Research Results (RoRR) policies varied considerably. Furthermore, we identified a high heterogeneity in perspectives of participants and experts about ELSI of study-specific RbG policies. Therefore, further fine-mapping through qualitative and empirical research is needed to draw conclusions and re-fine ELSI frameworks.
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Affiliation(s)
- Katharina Tschigg
- Department of Cellular, Computational, and Integrative Biology, University of Trento, Trento, Italy.
- Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy.
| | - Luca Consoli
- Institute for Science in Society, Radboud University, Nijmegen, Netherlands
| | - Roberta Biasiotto
- Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy
- Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
| | - Deborah Mascalzoni
- Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy
- Department of Public Health and Caring Sciences, Center for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden
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Labude MK, Shen L, Zhu Y, Schaefer GO, Ong C, Xafis V. Perspectives of Singaporean biomedical researchers and research support staff on actual and ideal IRB review functions and characteristics: A quantitative analysis. PLoS One 2020; 15:e0241783. [PMID: 33382683 PMCID: PMC7774925 DOI: 10.1371/journal.pone.0241783] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2020] [Accepted: 10/20/2020] [Indexed: 01/22/2023] Open
Abstract
Background Biomedical research is overseen by numerous Institutional Review Boards (IRBs) in Singapore but there has been no research that examines how the research review process is perceived by the local research community nor is there any systematic data on perceptions regarding the review process or other research ethics processes and IRB characteristics. The aim of this study was to ascertain general views regarding the overall perceived value of ethics review processes; to measure perceptions about local IRB functions and characteristics; to identify IRB functions and characteristics viewed as important; and to compare these views with those of other international studies. Methods An online survey was used with the main component being the IRB-Researcher Assessment Tool (IRB-RAT), a validated tool, to evaluate perceptions of ideal and actual IRB functions and characteristics held by Singaporean researchers and research support staff. Data were analysed descriptively first, with mean and SD of each item of IRB-RAT questionnaire reported, excluding the respondents whose answers were unknown or not applicable. The Wilcoxon Sign Rank test was used to compare the ideal and actual ratings of each IRB-RAT item, while the Mann-Whitney U test was used to compare the ratings of each IRB-RAT item between respondents with different characteristics. The Z-test was used to compare the mean ratings of our cohort with the mean ratings reported in the literature. The correlation between our mean ideal scores and those of two international studies also employing the IRB-RAT was examined. Results Seventy-one respondents completed the survey. This cohort generally held positive views of the impact of the ethics review process on: the quality of research; establishing and maintaining public trust in research; the protection of research participants; and on the scientific validity of research. The most important ideal IRB characteristics were timeliness, upholding participants’ rights while also facilitating research, working with investigators to find solutions when there are disagreements, and not allowing biases to affect reviews. For almost all 45 IRB-RAT statements, the rating of the importance of the characteristic was higher than the rating of how much that characteristic was descriptive of IRBs the respondents were familiar with. There was a significant strong correlation between our study’s scores on the ideal IRB characteristics and those of the first and largest published study that employed the IRB-RAT, the US National Validation (USNV) sample in Keith-Spiegel et al. [19]. Conclusions An understanding of the perceptions held by Singaporean researchers and research support staff on the value that the ethics review process adds, their perceptions of actual IRB functions and characteristics as well as what they view as central to high functioning IRBs is the first step to considering the aspects of the review process that might benefit from improvements. This study provides insight into how our cohort compares to others internationally and highlights strengths and areas for improvement of Singapore IRBs as perceived by a small sample of the local research community. Such insights provide a springboard for additional research and may assist in further enhancing good relations so that both are working towards the same end.
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Affiliation(s)
- Markus K. Labude
- Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
- * E-mail: (MKL); (VX)
| | - Liang Shen
- Biostatistics Unit, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
| | - Yujia Zhu
- Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
| | - G. Owen Schaefer
- Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
| | - Catherine Ong
- Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
- Division of Infectious Diseases, University Medicine Cluster, National University Health System, Singapore, Singapore
| | - Vicki Xafis
- Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
- * E-mail: (MKL); (VX)
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Botkin JR. Informed Consent for Genetic and Genomic Research. ACTA ACUST UNITED AC 2020; 108:e104. [PMID: 33202103 DOI: 10.1002/cphg.104] [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: 11/10/2022]
Abstract
Genetic research often utilizes or generates information that is potentially sensitive to individuals, families, or communities. For these reasons, genetic research may warrant additional scrutiny from investigators and governmental regulators, compared to other types of biomedical research. The informed consent process should address the range of social and psychological issues that may arise in genetic research. This article addresses a number of these issues, including recruitment of participants, disclosure of results, psychological impact of results, insurance and employment discrimination, community engagement, consent for tissue banking, and intellectual property issues. Points of consideration are offered to assist in the development of protocols and consent processes in light of contemporary debates on a number of these issues. © 2020 Wiley Periodicals LLC.
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Beskow LM, Brelsford KM, Hammack CM. Patient perspectives on use of electronic health records for research recruitment. BMC Med Res Methodol 2019; 19:42. [PMID: 30808279 PMCID: PMC6390331 DOI: 10.1186/s12874-019-0686-z] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2018] [Accepted: 02/15/2019] [Indexed: 02/17/2023] Open
Abstract
BACKGROUND EHR phenotyping offers the ability to rapidly assemble a precisely defined cohort of patients prescreened for eligibility to participate in health-related research. Even so, stakeholders in the process must still contend with the practical and ethical challenges associated with research recruitment. Patient perspectives on these matters are particularly important given that the success of research recruitment depends on patients' willingness to participate. METHODS We conducted 15 focus groups (n = 110 participants) in four counties in diverse regions of the southeastern US: Appalachia, the Mississippi Delta, and the Piedmont area of North Carolina. Based on a hypothetical study of a behavioral intervention for type 2 diabetes, we asked about the acceptability and appropriateness of direct investigator versus physician-mediated contact with patients for research recruitment, and whether patients should be asked to opt in or opt out of further contact in response to recruitment letters. RESULTS For initial contact, nearly all participants said it would be acceptable for researchers to contact patients directly and three-fourths said that it would be acceptable for researchers to contact patients through their physicians. When we asked which would be most appropriate, a substantial majority chose direct contact. Themes that arose in the discussion included trust and transparency, decision-making power, the effect on research, and the effect on patient care. For response expectations, the vast majority of participants said both opt-in and opt-out would be acceptable-typically finding neither especially problematic and noting that both afford patients the opportunity to make their own decisions. CONCLUSIONS External validity relies heavily on researchers' success enrolling eligible patients and failure to reach accrual targets is a costly and common barrier to advancing scientific knowledge. Our results suggest that patients recognize multiple advantages and disadvantages of different research recruitment strategies and place value on the implications not just for themselves, but also for researchers and healthcare providers. Our findings, including rich qualitative detail, contribute to the body of empirical and ethical literature on improving research recruitment and suggest specific ways forward as well as important areas for future research.
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Affiliation(s)
- Laura M. Beskow
- Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 400, Nashville, TN 37203 USA
| | - Kathleen M. Brelsford
- Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 400, Nashville, TN 37203 USA
| | - Catherine M. Hammack
- Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 400, Nashville, TN 37203 USA
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Takashima K, Maru Y, Mori S, Mano H, Noda T, Muto K. Ethical concerns on sharing genomic data including patients' family members. BMC Med Ethics 2018; 19:61. [PMID: 29914459 PMCID: PMC6006763 DOI: 10.1186/s12910-018-0310-5] [Citation(s) in RCA: 19] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2017] [Accepted: 06/07/2018] [Indexed: 12/28/2022] Open
Abstract
Background Platforms for sharing genomic and phenotype data have been developed to promote genomic research, while maximizing the utility of existing datasets and minimizing the burden on participants. The value of genomic analysis of trios or family members has increased, especially in rare diseases and cancers. This article aims to argue the necessity of protection when sharing data from both patients and family members. Main text Sharing patients’ and family members’ data collectively raises an ethical tension between the value of datasets and the rights of participants, and increases the risk of re-identification. However, current data-sharing policies have no specific safeguards or provisions for familial data sharing. A quantitative survey conducted on 10,881 general adults in Japan indicated that they expected stronger protection mechanisms when their family members’ clinical and/or genomic data were shared together, as compared to when only their data were shared. A framework that respects decision-making and the right of withdrawal of participants, including family members, along with ensuring usefulness and security of data is needed. To enable this, we propose recommendations on ancillary safeguards for familial data sharing according to the stakeholders, namely, initial researchers, genomic researchers, data submitters, database operators, institutional review boards, and the public and participants. Conclusions Families have played significant roles in genetic research, and its value is re-illuminated in the era of genomic medicine. It is important to make progress in data sharing while simultaneously protecting the privacy and interests of patients and families, and return its benefits to them.
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Affiliation(s)
- Kyoko Takashima
- Department of Public Policy, The Institute of Medical Science, The University of Tokyo, Shirokanedai 4-6-1, Minato-ku, Tokyo, 108-8639, Japan. .,Medical Genomics Center, National Center for Global Health and Medicine, 1-21-1 Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan.
| | - Yuichi Maru
- Department of Regional Policy, Faculty of Regional Sciences, Tottori University, 4-101 Koyama-cho Minami, Tottori, 680-8551, Japan
| | - Seiichi Mori
- Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31, Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Hiroyuki Mano
- National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan
| | - Tetsuo Noda
- Cancer Institute, Japanese Foundation for Cancer Research, 3-8-31, Ariake, Koto-ku, Tokyo, 135-8550, Japan
| | - Kaori Muto
- Department of Public Policy, The Institute of Medical Science, The University of Tokyo, Shirokanedai 4-6-1, Minato-ku, Tokyo, 108-8639, Japan
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Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ. Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nat Commun 2018; 9:711. [PMID: 29459775 PMCID: PMC5818506 DOI: 10.1038/s41467-018-03109-y] [Citation(s) in RCA: 48] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/29/2017] [Accepted: 01/19/2018] [Indexed: 02/02/2023] Open
Abstract
Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.
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Affiliation(s)
- Laura J Corbin
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
| | - Vanessa Y Tan
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
| | - David A Hughes
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
| | - Kaitlin H Wade
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
| | - Dirk S Paul
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK
- British Heart Foundation (BHF) Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK
| | - Katherine E Tansey
- Core Bioinformatics and Statistics Team, College of Biomedical & Life Sciences, Cardiff University, Cardiff, CF10 3XQ, UK
| | - Frances Butcher
- Oxford School of Public Health, University of Oxford, Oxford, OX3 7LF, UK
| | - Frank Dudbridge
- Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK
| | - Joanna M Howson
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK
| | - Momodou W Jallow
- Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK
- MRC Unit The Gambia (MRCG), Atlantic Boulevard, Fajara, P.O. Box 273, Banjul, Gambia
| | - Catherine John
- Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK
| | - Nathalie Kingston
- National Institute for Health Research (NIHR) BioResource for Translational Research in Common and Rare Diseases & NIHR BioResource Centre Cambridge, University of Cambridge, Cambridge, CB2 0QQ, UK
| | - Cecilia M Lindgren
- Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, OX3 7FZ, UK
- Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
- Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, 02142, USA
- NIHR Oxford Biomedical Research Centre, OUH Hospital, Oxford, OX4 2PG, UK
| | - Michael O'Donavan
- MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK
| | - Stephen O'Rahilly
- Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0QQ, UK
| | - Michael J Owen
- MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK
| | - Colin N A Palmer
- Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
| | - Ewan R Pearson
- Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
| | - Robert A Scott
- Quantitative Sciences, GlaxoSmithKline, Stevenage, SG1 2NY, UK
| | - David A van Heel
- Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK
| | - John Whittaker
- Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK
- Statistical Genetics, Projects, Clinical Platforms, and Sciences (PCPS), GlaxoSmithKline, Research Triangle Park, NC, 27709, USA
| | - Tim Frayling
- Genetics of Complex Traits, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, EX1 2LU, UK
| | - Martin D Tobin
- Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK
- NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, UK
| | - Louise V Wain
- Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK
- NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, UK
| | - George Davey Smith
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
| | - David M Evans
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK
- The University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute, Brisbane, QLD, 4072, Australia
| | - Fredrik Karpe
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LE, UK
- NIHR Oxford Biomedical Research Centre, Churchill Hospital, Oxford, OX3 7LE, UK
| | - Mark I McCarthy
- Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LE, UK
- NIHR Oxford Biomedical Research Centre, Churchill Hospital, Oxford, OX3 7LE, UK
| | - John Danesh
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK
- British Heart Foundation (BHF) Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK
- Department of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1HH, UK
- NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB2 0SR, UK
| | - Paul W Franks
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LE, UK
- Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Clinical Research Centre, Lund University, Skåne University Hospital, Malmö, SE-205 02, Sweden
- Department of Public Health and Clinical Medicine, Section for Medicine, Umeå University, Umeå, 907 37, Sweden
- Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA
| | - Nicholas J Timpson
- MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
- Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
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A survey of practices for the use of electronic health records to support research recruitment. J Clin Transl Sci 2017; 1:246-252. [PMID: 29657859 PMCID: PMC5890320 DOI: 10.1017/cts.2017.301] [Citation(s) in RCA: 41] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/18/2023] Open
Abstract
Electronic health records (EHRs) provide great promise for identifying cohorts and enhancing research recruitment. Such approaches are sorely needed, but there are few descriptions in the literature of prevailing practices to guide their use. A multidisciplinary workgroup was formed to examine current practices in the use of EHRs in recruitment and to propose future directions. The group surveyed consortium members regarding current practices. Over 98% of the Clinical and Translational Science Award Consortium responded to the survey. Brokered and self-service data warehouse access are in early or full operation at 94% and 92% of institutions, respectively, whereas, EHR alerts to providers and to research teams are at 45% and 48%, respectively, and use of patient portals for research is at 20%. However, these percentages increase significantly to 88% and above if planning and exploratory work were considered cumulatively. For most approaches, implementation reflected perceived demand. Regulatory and workflow processes were similarly varied, and many respondents described substantive restrictions arising from logistical constraints and limitations on collaboration and data sharing. Survey results reflect wide variation in implementation and approach, and point to strong need for comparative research and development of best practices to protect patients and facilitate interinstitutional collaboration and multisite research.
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Beskow LM. Genotype-Driven Recruitment and the Disclosure of Individual Research Results. THE AMERICAN JOURNAL OF BIOETHICS : AJOB 2017; 17:64-65. [PMID: 28328375 DOI: 10.1080/15265161.2017.1284916] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/06/2023]
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Boyer BB, Mohatt GV, Pasker RL, Drew EM, McGlone KK. Sharing results from complex disease genetics studies: a community based participatory research approach. Int J Circumpolar Health 2016; 66:19-30. [PMID: 17451131 DOI: 10.3402/ijch.v66i1.18221] [Citation(s) in RCA: 35] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022] Open
Abstract
OBJECTIVES Dissemination of research results to communities builds capacity of the community to understand and utilize the results. The objective of this manuscript was to propose a culturally appropriate approach to disseminate complex disease genetics research findings in small Alaska Native communities. STUDY DESIGN The Center for Alaska Native Health Research is a community-based participatory research project (CBPR) directed at understanding the interactions between genetic, nutritional and psychosocial risk factors for obesity, diabetes, and cardiovascular disease in Yup'ik Eskimos. METHODS We have consulted with regional healthcare providers, tribal leaders, and university-, local-, and national-institutional review boards to identify potential mechanisms for sharing population-based genetics research results or progress. RESULTS We propose a six step CBPR-approach to conducting genetics research in isolated identifiable communities. This CPBR-approach includes generating a common research question, determining community interest, recruitment, capacity building, sharing power and control, avoiding group harm, and development of culturally appropriate dissemination procedures. CONCLUSIONS Research scientists and community members should both benefit from population-based genetics research. Although we are just beginning our discussions with regard to sharing genetics research progress and findings, we believe that it is essential move forward as co-researchers in the CBPR enterprise.
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Affiliation(s)
- Bert B Boyer
- Center for Alaska Native Health Research, Institute of Arctic Biology, University of Alaska, Fairbanks 99775, USA.
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Dressler LG, Deal AM, Owzar K, Watson D, Donahue K, Friedman PN, Ratain MJ, McLeod HL. Participation in Cancer Pharmacogenomic Studies: A Study of 8456 Patients Registered to Clinical Trials in the Cancer and Leukemia Group B (Alliance). J Natl Cancer Inst 2015; 107:djv188. [PMID: 26160883 DOI: 10.1093/jnci/djv188] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2015] [Accepted: 06/22/2015] [Indexed: 11/13/2022] Open
Abstract
BACKGROUND Clinically annotated specimens from cancer clinical trial participants offer an opportunity for discovery and validation of pharmacogenomic findings. The purpose of this observational study is to better understand patient/institution factors that may contribute to participation in the pharmacogenomic component of prospective cancer clinical trials. METHODS Patient demographic information (age, sex, self-reported race) and institutional characteristics (CALGB/CTSU site, "diversity," and accrual) were evaluated for 8456 patients enrolled in seven CALGB phase III studies with a pharmacogenomic component. All statistical tests were two-sided. RESULTS The majority of patients (81%) consented to participate in the pharmacogenomic component. However, in a multivariable analysis, site (CALGB vs CTSU) and "institutional diversity" (percent minority cancer patients on national trials) were statistically significantly associated with participation. For both whites and nonwhites, patients from CALGB sites were more likely to participate compared with patients from CTSU sites (whites: odds ratio [OR] = 2.26, 95% confidence interval [CI] = 1.68 to 3.04, P < .001; nonwhites: OR = 1.79, 95% CI = 1.52 to 2.11, P < .001). However, as "institutional diversity" increased, the likelihood of participation in the pharmacogenomics component decreased for both white (OR = 0.94, 95% CI = 0.91 to 0.97, P < .001) and nonwhite patients (OR = 0.90, 95% CI = 0.81 to 1.00, P = .05). CONCLUSIONS Most clinical trial cancer patients across geographical, racial, and practice settings are willing to participate in pharmacogenomic studies. However, to promote equitable benefit to the larger cancer community, optimization of both patient and institutional participation are needed. Institutional factors may be even more compelling than patient demographics. Prospective studies are needed to identify and address barriers/incentives to participation in pharmacogenomic research at the patient, clinician, and institutional levels.
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Affiliation(s)
- Lynn G Dressler
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM).
| | - Allison M Deal
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Kouros Owzar
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Dorothy Watson
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Katherine Donahue
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Paula N Friedman
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Mark J Ratain
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
| | - Howard L McLeod
- Personalized Medicine, Mission Cancer Care, Mission Health, Asheville, NC (LGD); Biostatistics Core, Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, NC (AMD); Alliance Statistics and Data Center, Duke University, Durham, NC (formerly the Cancer and Leukemia Group B Statistical and Data Management Center, Duke University, Durham, NC) (KO); GlaxoSmithKline, Research Triangle Park, NC (DW); Independent contractor, Williamsville, NY (KD); Department of Medicine and Center for Personalized Therapeutics, University of Chicago, Chicago, IL (PNF, MJR); DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL (HLM)
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Kamuya DM, Theobald SJ, Marsh V, Parker M, Geissler WP, Molyneux SC. "The one who chases you away does not tell you go": silent refusals and complex power relations in research consent processes in Coastal Kenya. PLoS One 2015; 10:e0126671. [PMID: 25978465 PMCID: PMC4433355 DOI: 10.1371/journal.pone.0126671] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/29/2014] [Accepted: 04/06/2015] [Indexed: 11/18/2022] Open
Abstract
Consent processes have attracted significant research attention over the last decade, including in the global south. Although relevant studies suggest consent is a complex negotiated process involving multiple actors, most guidelines assume consent is a one-off encounter with a clear 'yes' or 'no' decision. In this paper we explore the concept of 'silent refusals', a situation where it is not clear whether potential participants want to join studies or those in studies want to withdraw from research, as they were not actively saying no. We draw on participant observation, in-depth interviews and group discussions conducted with a range of stakeholders in two large community based studies conducted by the KEMRI Wellcome Trust programme in coastal Kenya. We identified three broad inter-related rationales for silent refusals: 1) a strategy to avoid conflicts and safeguard relations within households, - for young women in particular-to appear to conform to the wishes of elders; 2) an approach to maintain friendly, appreciative and reciprocal relationships with fieldworkers, and the broader research programme; and 3) an effort to retain study benefits, either for individuals, whole households or wider communities. That refusals and underlying rationales were silent posed multiple dilemmas for fieldworkers, who are increasingly recognised to play a key interface role between researchers and communities in many settings. Silent refusals reflect and reinforce complex power relations embedded in decisions about research participation, with important implications for consent processes and broader research ethics practice. Fieldworkers need support to reflect upon and respond to the ethically charged environment they work in.
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Affiliation(s)
- Dorcas M. Kamuya
- KEMRI-Wellcome Trust research Programme, Kilifi, Kenya
- The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom
- * E-mail:
| | - Sally J. Theobald
- Department of International Public Health, Liverpool School of Tropical Medicine, Liverpool, United Kingdom
| | - Vicki Marsh
- KEMRI-Wellcome Trust research Programme, Kilifi, Kenya
- The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom
- Centre for Tropical Medicine, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom
| | - Michael Parker
- The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom
| | - Wenzel P. Geissler
- Department of Social Anthropology, Oslo University, Oslo, Norway
- Department of Social Anthropology, University of Cambridge, Cambridge, United Kingdom
| | - Sassy C. Molyneux
- KEMRI-Wellcome Trust research Programme, Kilifi, Kenya
- The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom
- Centre for Tropical Medicine, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom
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Burke W, Appelbaum P, Dame L, Marshall P, Press N, Pyeritz R, Sharp R, Juengst E. The translational potential of research on the ethical, legal, and social implications of genomics. Genet Med 2015; 17:12-20. [PMID: 24946153 PMCID: PMC4272334 DOI: 10.1038/gim.2014.74] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2014] [Accepted: 05/16/2014] [Indexed: 12/24/2022] Open
Abstract
Federally funded research on the ethical, legal, and social implications (ELSI) of genomics includes a programmatic charge to consider policy-relevant questions and to communicate findings in venues that help inform the policy-making process. In addressing this goal, investigators must consider the range of policies that are relevant to human genetics; how foundational research in bioethics, law, and the social sciences might inform those policies; and the potential professional issues that this translational imperative raises for ELSI investigators. We review these questions in light of experiences from a consortium of federally funded Centers of Excellence in ELSI Research, and offer a set of policy recommendations for program design and evaluation of ELSI research. We conclude that it would be a mistake to require that ELSI research programs demonstrate a direct impact on science or health policy; however, ELSI researchers can take steps to increase the relevance of their work to policy makers. Similarly, funders of ELSI research who are concerned with facilitating policy development can help by building cross-disciplinary translational research capacities, and universities can take steps to make policy-relevant research more rewarding for scholars in the humanities, social sciences, and law.
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Affiliation(s)
| | | | | | | | - Nancy Press
- Oregon Health and Science University, Portland, OR
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Shaw JL, Robinson R, Starks H, Burke W, Dillard DA. Risk, reward, and the double-edged sword: perspectives on pharmacogenetic research and clinical testing among Alaska Native people. Am J Public Health 2013; 103:2220-5. [PMID: 24134351 DOI: 10.2105/ajph.2013.301596] [Citation(s) in RCA: 42] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
OBJECTIVES Pharmacogenetic research and clinical testing raise important concerns for individuals and communities, especially where past medical research and practice has perpetrated harm and cultivated distrust of health care systems and clinicians. We investigated perceptions of pharmacogenetics among Alaska Native (AN) people. METHODS We held four focus groups for 32 ANs in south central Alaska to elicit views about pharmacogenetics in general and for treatment of cardiovascular disease, breast cancer, depression, and nicotine addiction. We analyzed data for perceived risks and rewards of pharmacogenetics. RESULTS Potential risks of pharmacogenetics included health care rationing, misuse of information, and stigma to individuals and the AN community. Potential rewards included decreased care costs, improved outcomes, and community development. Participants also discussed 8 contingent conditions that could mitigate risks and increase pharmacogenetic acceptability. CONCLUSIONS Alaska Natives perceive pharmacogenetics as potentially benefitting and harming individuals, communities, and health systems, depending on methods and oversight. Researchers, clinicians, and administrators, especially in community-based clinic and health care systems serving minority populations, must address this "double-edged sword" to effectively conduct pharmacogenetics.
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Affiliation(s)
- Jennifer L Shaw
- Jennifer L. Shaw, Renee Robinson, and Denise A. Dillard are with the Southcentral Foundation Research Department, Anchorage, AK. Helene Starks and Wylie Burke are with the University of Washington, Seattle
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Budin-Ljøsne I, Soye KJ, Tassé AM, Knoppers BM, Harris JR. Genotype-driven recruitment: a strategy whose time has come? BMC Med Genomics 2013; 6:19. [PMID: 23702358 PMCID: PMC3664592 DOI: 10.1186/1755-8794-6-19] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2013] [Accepted: 05/17/2013] [Indexed: 11/30/2022] Open
Abstract
Background Genotype-Driven Recruitment (GDR) is a research design that recruits research participants based on genotype rather than based on the presence or absence of a particular condition or clinical outcome. Analyses of the ethical issues of GDR studies, and the recommendations derived from these analyses, are based on GDR research designs that make use of genetic information already collected in previous studies. However, as genotyping becomes more affordable, it is expected that genotypic information will become a common part of the information stored in biobanks and held in health care records. Furthermore, individuals will increasingly gain knowledge of their own genotypes through Direct-to-Consumer services. One can therefore foresee that individuals will be invited to participate not only in follow-up GDR studies but also in original GDR studies because genetic information about them is available. These individuals may or may have not participated in research before and may or may not be aware that their genetic information is available for research. Discussion From a conceptual point of view, we investigate whether the current ethics-related recommendations for the conduct of GDR suffice for a broader array of circumstances under which genetic information can be available. Our analysis reveals that the existing recommendations do not suffice for a broader use of GDR. Summary Our findings refocus attention on ethical issues which are neither new nor specific to GDR but which place greater demand on coordinated solutions. These challenges and approaches for addressing them are discussed.
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Affiliation(s)
- Isabelle Budin-Ljøsne
- Division of Epidemiology, Department of Genes and Environment, Norwegian Institute of Public Health, P,O, Box 4404, Nydalen, Oslo NO-0403, Norway.
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Beskow LM, Fullerton SM, Namey EE, Nelson DK, Davis AM, Wilfond BS. Recommendations for ethical approaches to genotype-driven research recruitment. Hum Genet 2012; 131:1423-31. [PMID: 22622788 PMCID: PMC3686635 DOI: 10.1007/s00439-012-1177-z] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2012] [Accepted: 05/04/2012] [Indexed: 12/16/2022]
Abstract
Recruiting research participants based on genetic information generated about them in a prior study is a potentially powerful way to study the functional significance of human genetic variation. However, it also presents significant ethical challenges that, to date, have received only minimal consideration. We convened a multi-disciplinary workshop to discuss key issues relevant to the conduct and oversight of genotype-driven recruitment and to translate those considerations into practical policy recommendations. Workshop participants were invited from around the US, and included genomic researchers and study coordinators, research participants, clinicians, bioethics scholars, experts in human research protections, and government representatives. Discussion was directed by experienced facilitators and informed by empirical data collected in a national survey of IRB chairs and in-depth interviews with research participants in studies where genotype-driven recontact occurred. A high degree of consensus was attained on the resulting seven recommendations, which cover informed consent disclosures and choices, the process for how and by whom participants are recontacted, the disclosure of individual genetic research results, and the importance of tailoring approaches based on specific contextual factors. These recommendations are intended to represent a balanced approach-protecting research participants, yet avoiding overly restrictive policies that hinder advancement on important scientific questions.
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Affiliation(s)
- Laura M Beskow
- Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA.
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Beskow LM, Namey EE, Cadigan RJ, Brazg T, Crouch J, Henderson GE, Michie M, Nelson DK, Tabor HK, Wilfond BS. Research participants' perspectives on genotype-driven research recruitment. J Empir Res Hum Res Ethics 2012; 6:3-20. [PMID: 22228056 DOI: 10.1525/jer.2011.6.4.3] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]
Abstract
Genotype-driven recruitment is a potentially powerful approach for studying human genetic variation but presents ethical challenges. We conducted in-depth interviews with research participants in six studies where such recruitment occurred. Nearly all responded favorably to the acceptability of recontact for research recruitment, and genotype-driven recruitment was viewed as a positive sign of scientific advancement. Reactions to questions about the disclosure of individual genetic research results varied. Common themes included explaining the purpose of recontact, informing decisions about further participation, reciprocity, "information is valuable," and the possibility of benefit, as well as concerns about undue distress and misunderstanding. Our findings suggest contact about additional research may be least concerning if it involves a known element (e.g., trusted researchers). Also, for genotype-driven recruitment, it may be appropriate to set a lower bar for disclosure of individual results than the clinical utility threshold recommended more generally.
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Affiliation(s)
- Laura M Beskow
- Duke Institute for Genome Sciences & Policy, Duke University, Durham, NC 27708, USA.
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Tabor HK, Brazg T, Crouch J, Namey EE, Fullerton SM, Beskow LM, Wilfond BS. Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment. J Empir Res Hum Res Ethics 2012; 6:41-52. [PMID: 22228059 DOI: 10.1525/jer.2011.6.4.41] [Citation(s) in RCA: 45] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Abstract
As genetic research is increasingly conducted in children, it is important to understand how parents make decisions about enrolling their children and what they think about receiving their children's genetic research results. We conducted semi-structured phone interviews with 23 parents of children enrolled in genetic studies of autism or diabetes. Qualitative thematic analysis focused on two important components of genetic research and genotype-driven recruitment: participation in genetic research and return of results. Our findings suggest that parents' preferences and perspectives may be specific to their child's disease and the needs of the family as a whole. Assessing the expectations of target research populations will be beneficial for developing best practices for pediatric genetic research, return of results, and genotype-driven recruitment.
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Affiliation(s)
- Holly K Tabor
- Seattle Children's Research Institute University of Washington, Treuman Katz Center for Pediatric Bioethics, 1900 Ninth Ave., Seattle, WA 98101, USA.
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Ressler IB, Jaeger AS, Lindheim SR. Evolving ethical issues in third party reproduction: Local and global considerations. World J Med Genet 2012; 2:1-8. [DOI: 10.5496/wjmg.v2.i1.1] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
There continues to be an increase in utilization of assisted reproductive technology (ART), including the use of third party gametes. Specifically, the use of third party oocytes, most recently reported in 2010 by the United States (US) Center for Disease Control and Society of Reproductive Medicine, accounted for 15 504 cycles and 7334 live births. This translates into approximately 11% of all the in vitro fertilization cases performed in the US. As utilization increases and the technological tools advance, they have created underappreciated and unforeseen ethical quandaries. As such, many practitioners think they “have heard it all”. However, each ART scenario is novel with the potential to pose complex unforeseen issues, potentially creating global challenges that could impact broad social and legal questions and test the moral consciousness’ of practitioners, policymakers and patients. While there are published US national guidelines to assist practitioners, we have identified new complex issues in assisted reproduction that present unique challenges, and we give a perspective from our eyes in the Western Hemisphere looking out to a global level. Specifically, this review focuses on some of the more recent and evolving issues that currently are and will be confronting us in the upcoming years. Particular attention focuses on discrepancies between third party legal contracts and ART consents regarding level of information sharing, and oocyte and embryo directives and management; dilemmas and obligations surrounding disclosure of medical outcomes especially in the context of growing access to Direct to Consumer genetic testing and Reproductive Tourism-Exile. Given the complexity of these and other ethical questions, finding answers may be achieved by ending the isolation of reproductive professionals and instead promoting increased and consistent communication among physicians, embryologists, therapists and reproductive attorneys to confront these evolving ethical quandaries.
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McMurter B, Parker L, Fraser RB, Magee JF, Kozancyzn C, Fernandez CV. Parental views on tissue banking in pediatric oncology patients. Pediatr Blood Cancer 2011; 57:1217-21. [PMID: 21254370 DOI: 10.1002/pbc.22716] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/20/2009] [Accepted: 05/24/2010] [Indexed: 11/12/2022]
Abstract
PURPOSE Research using banked tissue is key to advancing risk-stratification and treatment of children with cancer. Knowledge of parental attitudes to ethical issues arising in tissue banking is very limited but essential in obtaining respectful consent. METHODS One hundred parents of consecutively diagnosed children with cancer were offered a validated 34-item questionnaire. RESULTS Respondents (n = 54) included 10 of 16 parents of deceased children. The majority (89%; n = 48) would agree to have tissue sent anywhere in the world but prefer pediatric aims (69%). Most (98%; n = 53) would permit genetic research, if it might improve the child's health, and 76% (n = 41) would permit it, even if no impact was anticipated. A minority (41%) would not allow painful, strictly research procedures, while 15% would regardless of the child's dissent. Just over half (54%; n = 29) wish to renew consent if stored tissue is used for another purpose. Most (98%) believe their child should confirm consent by the age of majority, but only 71% believe the mature child should be able to withdraw consent. A minority (n = 40; 74%) claim few or no rights to research profits; 83% believe these should be used to fund childhood cancer research. CONCLUSIONS Parents are very supportive of tissue research, including genetic research. A majority of parents would prefer restricting research to pediatric conditions, and to be informed of results, even if of uncertain significance. These findings may assist Institutional Review Boards in assessing parentally perceived risks of research, and researchers in providing consent elements that support parents and adolescents in making fully informed choices.
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Affiliation(s)
- Britney McMurter
- Department of Kinesiology, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada
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Lindheim SR, Porat N, Jaeger AS. Survey report of gamete donors' and recipients' preferences regarding disclosure of third party reproduction outcomes and genetic risk information. J Obstet Gynaecol Res 2011; 37:292-9. [PMID: 21349122 DOI: 10.1111/j.1447-0756.2010.01333.x] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
AIM Issues surrounding egg donation informed consent have recently been spotlighted due to advances in medical genetics. We sought information on attitudes and desires of donors and recipients to craft a program policy on counseling, disclosures, and re-contacting participants. METHODS Between April 2003 and September 2006 we conducted a questionnaire-based evaluation in our oocyte donor program. Donors pre-donation (n=265) and those undergoing the process (n=60), and recipients either ante- or postpartum (n=57), were asked about their desire to know/disclose obstetric outcomes (Question 1); willingness for contact in the event of a medical emergency (Question 2); and wish to know/disclose a liveborn's medical condition (Question 3). RESULTS Pre-donation questioning among all donors generally revealed reticence to Question 1 (31% [n=83]), but were overall amenable with Questions 2 and 3 (83% [n=220] and 83% [n=219]). Following the donation process, no differences in Questions 1 and 2 were noted, but fewer donors were amenable with Question 3 (pre-donation 93% [n=56] versus post-donation 38% [n=23]; P<0.01). Overall, recipients were amenable to all three questions (88% [n=50], 74% [n=42] and 88% [n=50]), with similar responses both ante- and postpartum. CONCLUSION All programs participating in gamete donation should establish a comprehensive disclosure policy, including consents that are built upon effective lines of communication between clinical staff and legal counsel assuring that parentage, relinquishment, and re-contact information in donor-recipient agreements are consistent with clinic consent documents and desires of both parties; All decisions must be adequately documented and honored and long-term counseling needs should be addressed.
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Clinton-McHarg T, Carey M, Sanson-Fisher R, Tracey E. Recruitment of representative samples for low incidence cancer populations: do registries deliver? BMC Med Res Methodol 2011; 11:5. [PMID: 21235819 PMCID: PMC3032757 DOI: 10.1186/1471-2288-11-5] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2010] [Accepted: 01/16/2011] [Indexed: 11/10/2022] Open
Abstract
Background Recruiting large and representative samples of adolescent and young adult (AYA) cancer survivors is important for gaining accurate data regarding the prevalence of unmet needs in this population. This study aimed to describe recruitment rates for AYAs recruited through a cancer registry with particular focus on: active clinician consent protocols, reasons for clinicians not providing consent and the representativeness of the final sample. Methods Adolescents and young adults aged 14 to19 years inclusive and listed on the cancer registry from January 1 2002 to December 31 2007 were identified. An active clinician consent protocol was used whereby the registry sent a letter to AYAs primary treating clinicians requesting permission to contact the survivors. The registry then sent survivors who received their clinician's consent a letter seeking permission to forward their contact details to the research team. Consenting AYAs were sent a questionnaire which assessed their unmet needs. Results The overall consent rate for AYAs identified as eligible by the registry was 7.8%. Of the 411 potentially eligible survivors identified, just over half (n = 232, 56%) received their clinician's consent to be contacted. Of those 232 AYAs, 65% were unable to be contacted. Only 18 AYAs (7.8%) refused permission for their contact details to be passed on to the research team. Of the 64 young people who agreed to be contacted, 50% (n = 32) completed the questionnaire. Conclusions Cancer registries which employ active clinician consent protocols may not be appropriate for recruiting large, representative samples of AYAs diagnosed with cancer. Given that AYA cancer survivors are highly mobile, alternative methods such as treatment centre and clinic based recruitment may need to be considered.
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Affiliation(s)
- Tara Clinton-McHarg
- Health Behaviour Research Group, Priority Research Centre for Health Behaviour (PRCHB), University of Newcastle, and Hunter Medical Research Institute (HMRI), Callaghan, New South Wales, Australia.
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Teschke K, Marino S, Chu R, Tsui JKC, Harris MA, Marion SA. Public opinions about participating in health research. Canadian Journal of Public Health 2010. [PMID: 20524383 DOI: 10.1007/bf03404364] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
OBJECTIVES Privacy legislation has limited options for recruiting subjects to health studies. Policy changes are motivated by assumptions about public attitudes towards participation, yet surveys of attitudes have rarely been done. We investigated public willingness to participate in health research and how willingness was affected by various factors. METHODS A survey of adults randomly selected from the telephone directory was conducted in British Columbia, Canada. Mailed self-administered questionnaires asked about willingness to participate in health research and the influence on willingness of the method of subject selection, the organization making the contact, and other factors. RESULTS There were 1,477 respondents (58% of eligible); 85% were willing to participate in health research at least sometimes. The organization making the contact influenced comfort about participation: 10% of respondents felt uncomfortable if contacted by a university, 12% if by a hospital, 26% if by government, and 55% if by private research firms. Factors most positively influencing choice to participate were future health benefits to society (87%) and oneself (87%), and receiving a copy of the study results (81%). CONCLUSIONS Participation in health research appears to be viewed favourably by members of the public, and participation may be highest when university or hospital-based researchers are able to contact subjects directly using information from government databases.
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Affiliation(s)
- Kay Teschke
- School of Population and Public Health, University of British Columbia, Vancouver, BC V6T 1Z3.
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ANR Inforare : proposition d’un modèle d’identifiant patient individuel pour les patients drépanocytaires. Ing Rech Biomed 2010. [DOI: 10.1016/j.irbm.2010.02.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
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Beskow LM, Linney KN, Radtke RA, Heinzen EL, Goldstein DB. Ethical challenges in genotype-driven research recruitment. Genome Res 2010; 20:705-9. [PMID: 20418491 DOI: 10.1101/gr.104455.109] [Citation(s) in RCA: 30] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Affiliation(s)
- Laura M Beskow
- Center for Genome Ethics, Law and Policy, Duke Institute for Genome Sciences and Policy, Durham, North Carolina 27708, USA.
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"We only did it because he asked us": gendered accounts of participation in a population genetic data collection. Soc Sci Med 2009; 69:1010-7. [PMID: 19666205 DOI: 10.1016/j.socscimed.2009.07.028] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2009] [Indexed: 11/23/2022]
Abstract
This article draws upon findings from an interview study with twenty-three families about participation in a large-scale population genetic database called, "Generation Scotland: The Scottish Family Health Study" (GS: SFHS). GS: SFHS aspires to become a DNA identification vehicle for the discovery of genetic contributions to diseases that affect the Scottish population e.g., cancer, heart disease and mental illness. Little is known about why families invited to take part in this type of research do so, especially when a family member is acting as a 'proxy' recruiter and is healthy with no known genetic (or otherwise) disease. Who will agree to be such a 'proxy recruiter' (or 'proband'), who GS: SFHS will recruit and why has been shown to be dependent on the existence of family disease, proband use of indirect and direct coercion, and the status of family relationships more generally. This study adds to these findings demonstrating that participation is limited by family history affecting the numbers of family members who can be recruited and enhanced by gender affecting who will be recruited. Although not mutually exclusive, the reasons for participation by probands were tied to leaving a 'healthy legacy,' whereas for the family members it was because they were asked and felt obliged to or were persuaded to by the proband. This research concludes: 1) biology is a choice not a given; 2) yet the biological basis of family relationships can give rise to a gendering of recruitment to the clinical study; and 3) women continue to be 'kin-keepers'.
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Abstract
Genetic research often utilizes or generates information that is potentially sensitive to individuals, families, or communities. For these reasons, genetic research may warrant additional scrutiny from investigators and governmental regulators, compared to other types of biomedical research. The informed consent process should address the range of social and psychological issues that may arise in genetic research. This paper addresses a number of these issues, including recruitment of participants, disclosure of results, psychological impact of results, insurance and employment discrimination, community engagement, consent for tissue banking, and intellectual property issues. Points of consideration are offered to assist in the development of protocols and consent processes in light of contemporary debates on a number of these issues.
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Affiliation(s)
- Wylie Burke
- Department of Medical History and Ethics, University of Washington, Seattle, WA, USA.
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Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet 2007; 8:157-64. [PMID: 17230202 DOI: 10.1038/nrg1991] [Citation(s) in RCA: 137] [Impact Index Per Article: 7.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
Abstract
Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational research, in order to meet the needs of the individuals that they serve. PXE International, an advocacy organization for the disease pseudoxanthoma elasticum, provides an example of how research can be accelerated by these groups. It has adopted methods that were pioneered by other advocacy organizations, and has integrated these along with new approaches into franchizable elements. The model has been followed for other conditions and has led to the establishment of a common infrastructure to enable advocacy groups to initiate, conduct and accelerate research.
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Affiliation(s)
- Sharon F Terry
- Genetic Alliance, PXE International and Genetic Alliance BioBank, 4301 Connecticut Avenue, NW, Suite 404, Washington, DC 20008, USA.
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DiMichele D, Chuansumrit A, London AJ, Thompson AR, Cooper CG, Killian RM, Ross LF, Lillicrap D, Kimmelman J. Ethical issues in haemophilia. Haemophilia 2007; 12 Suppl 3:30-5. [PMID: 16683994 DOI: 10.1111/j.1365-2516.2006.01258.x] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
Abstract
Ethical issues surrounding both the lack of global access to care as well as the implementation of advancing technologies, continue to challenge the international haemophilia community. Haemophilia is not given the priority it deserves in most developing countries. Given the heavy burdens of sickness and disease and severe resource constraints, it may not be possible to provide effective treatment to all who suffer from the various 'orphan' diseases. Nevertheless, through joint efforts, some package of effective interventions can be deployed for a significant number of those who are afflicted with 'orphan' diseases. With cost-effective utilization of limited resources, a national standard of care is possible and affordable. Gene-based diagnosis carries attendant ethical concerns whether for clinical testing or for research purposes, even as the list of its potential benefits to the haemophilia community grows rapidly. As large-scale genetic sequencing becomes quicker and cheaper, moving from the research to the clinic, we will face decisions about the implementation of prenatal, neonatal and other screening programs. Such debates will require input from not just the health care professionals but from all stakeholders in the haemophilia community. Finally, long-term therapeutic success gene transfer in small and large animal models raises the question of when and in which patient population the novel therapeutic approach should first be studied in humans with haemophilia. Although gene therapy represents a worthy goal, the central question for the haemophilia community should be whether it wishes to volunteer itself as a model for a much broader set of innovations.
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Affiliation(s)
- D DiMichele
- Department of Pediatrics, Weill Medical College of Cornell University, New York 10021, USA.
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DeMarco TA, Loffredo CA, Sampilo ML, Tercyak KP. On using a cancer center cancer registry to identify newly affected women eligible for hereditary breast cancer syndrome testing: practical considerations. J Genet Couns 2006; 15:129-36. [PMID: 16761104 DOI: 10.1007/s10897-005-9006-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]
Abstract
The goals of this research were to describe the process of identifying and recruiting individuals registered with a cancer center's cancer registry who were eligible to participate in cancer genetic research. This study specifically focused on younger women with personal and family cancer histories strongly suggestive of hereditary breast cancer syndromes, as determined by genetic counselor review. Of special interest was to determine the proportion of women from minority backgrounds who were (a) identifiable in this manner and (b) interested in genetic testing for hereditary breast cancer through a family cancer clinical research program. An initial query of the 292 cases of women newly affected with breast cancer and contained within the registry indicated that 124 met demographic eligibility criteria. The personal and family cancer histories of each of these women were then reviewed by a genetic counselor and the remaining, eligible patients (n = 31) were subsequently contacted by mail and telephone: approximately three-fifths (18/31) of these patients were White and two-fifths (13/31) were Black or of another racial background. Of the women who were sent one or more study-related mailings, 10% (3/31) were unreachable by telephone due to incorrect contact information, 32% (10/31) were reachable by telephone but unresponsive to messages left, 26% (8/31) had already participated in the family cancer program (i.e., were positive controls), 6% (2/31) were interested in participating in the program, 23% (7/31) were uninterested in participating in the program, and 3% (1/31) were later determined to be ineligible. Comparing the racial backgrounds of women who were either positive controls or interested in participating (i.e., "tester" category) to women who were either unreachable, nonresponsive, uninterested, or ineligible (i.e., "nontester" category), there was a nonsignificant trend for more non-White women to fall into the nontester than tester category, Fisher's Exact Test = .09. This work underscores practical steps in planning and carrying-out cancer genetic testing research among women newly affected with breast cancer and members of special populations. It also underscores the role that genetic counseling professionals play in this process.
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Affiliation(s)
- Tiffani A DeMarco
- Cancer Control Program, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, District of Columbia 20007-2401, USA
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Beskow LM, Sandler RS, Weinberger M. Research recruitment through US central cancer registries: balancing privacy and scientific issues. Am J Public Health 2006; 96:1920-6. [PMID: 16571700 PMCID: PMC1751818 DOI: 10.2105/ajph.2004.061556] [Citation(s) in RCA: 56] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 06/11/2005] [Indexed: 12/21/2022]
Abstract
Cancer registries are a valuable resource for recruiting participants for public health-oriented research, although such recruitment raises potentially competing concerns about patient privacy and participant accrual. We surveyed US central cancer registries about their policies for research contact with patients, and results showed substantial variation. The strategy used most frequently (37.5% of those that allowed patient contact), which was among the least restrictive, was for investigators to notify patients' physicians and then contact patients with an opt-out approach. The most restrictive strategy was for registry staff to obtain physician permission and contact patients with an opt-in approach. Population-based studies enhance cancer control efforts, and registry policies can affect researchers' ability to conduct such studies. Further discussion about balanced recruitment approaches that protect patient privacy and encourage beneficial research is needed.
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Affiliation(s)
- Laura M Beskow
- Department of Health Policy and Administration, University of North Carolina School of Public Health, Chapel Hill 27599-7411, USA.
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Marshall PA, Adebamowo CA, Adeyemo AA, Ogundiran TO, Vekich M, Strenski T, Zhou J, Prewitt TE, Cooper RS, Rotimi CN. Voluntary participation and informed consent to international genetic research. Am J Public Health 2006; 96:1989-95. [PMID: 17018820 PMCID: PMC1751828 DOI: 10.2105/ajph.2005.076232] [Citation(s) in RCA: 57] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
OBJECTIVES We compared voluntary participation and comprehension of informed consent among individuals of African ancestry enrolled in similarly designed genetic studies of hypertension in the United States and Nigeria. METHODS Survey questionnaires were used to evaluate factors associated with voluntariness (the number of people volunteering) and understanding of the study's genetic purpose. A total of 655 individuals (United States: 348; Nigeria: 307) were interviewed after participation in the genetic studies. RESULTS Most US respondents (99%), compared with 72% of Nigerian respondents, reported being told the study purpose. Fewer than half of the respondents at both sites reported that the study purpose was to learn about genetic inheritance of hypertension. Most respondents indicated that their participation was voluntary. In the United States, 97% reported that they could withdraw, compared with 67% in Nigeria. In Nigeria, nearly half the married women reported asking permission from husbands to enroll in the hypertension study; no respondents sought permission from local elders to participate in the study. CONCLUSIONS Our findings highlight the need for more effective approaches and interventions to improve comprehension of consent for genetic research among ethnically and linguistically diverse populations in all settings.
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Affiliation(s)
- Patricia A Marshall
- Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106-4976, USA.
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Beskow LM, Millikan RC, Sandler RS, Godley PA, Weiner BJ, Weinberger M. The effect of physician permission versus notification on research recruitment through cancer registries (United States). Cancer Causes Control 2006; 17:315-23. [PMID: 16489539 DOI: 10.1007/s10552-005-0521-1] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2005] [Accepted: 10/12/2005] [Indexed: 11/28/2022]
Abstract
OBJECTIVE To determine how physicians responded when investigators inquired about contacting patients identified through a central cancer registry, and to examine participation rates under physician permission versus notification approaches. METHODS We analyzed existing data from seven observational epidemiologic studies conducted in North Carolina between 1993 and 2004, capitalizing on a 'natural experiment' that arose when the state registry changed from a policy requiring investigators to obtain physician permission to one requiring only physician notification. RESULTS When a notification approach was used, physicians approved researcher contact with a higher proportion of patients, and a higher proportion of physicians approved contact with or provided eligibility information about all patients requested, compared with a permission approach. Among physicians who were contacted under both approaches, the proportion of patients for whom they approved contact or provided information was significantly higher when they were notified. Physician notification was also associated with higher patient contact and overall response rates. Patient cooperation rates did not differ between the two approaches, suggesting that patients did not respond negatively to the fact that their physician was not explicitly asked to provide permission. CONCLUSION Notification is likely an efficient way of involving patients' physicians, providing opportunity for physician input but avoiding the burdens associated with requiring their permission.
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Affiliation(s)
- Laura M Beskow
- Department of Health Policy and Administration, School of Public Health, University of North Carolina, Chapel Hill, USA.
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Reid EP, Forbes A, Sanderson J, Mathew CG, Lewis C, Marteau TM. Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease. Eur J Hum Genet 2006; 14:1263-8. [PMID: 16868558 DOI: 10.1038/sj.ejhg.5201699] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022] Open
Abstract
The most effective and acceptable ways of approaching relatives of identified probands to participate in research are unknown. We report on two methods. A total of 640 probands with Crohn's disease were contacted by post and invited to select how the research team would contact their relatives to assess their interest in participating in prevention research. Clinician-led approach: required probands to provide contact details for their first-degree relatives so that the research team could send them study questionnaires; proband-led approach: required probands to request questionnaires with stamped envelopes for them to forward to their relatives. Fifty-six percent (356/640) of probands contacted participated, with 80% (284) providing details of eligible relatives. Forty-eight percent (136/284) of probands requested 392 relatives be contacted by the researchers and 50% (142/284) requested that the questionnaire be sent to them so that they could give this to their 437 relatives personally. Two percent (6/284) requested mixed methods. Eligible responses came from 73% of relatives (587/805), 81% (299/368) of those contacted by the researchers and 66% (288/437) of those contacted via probands (difference 15%, 95% CI 10, 22). Both methods yielded similarly high levels of interest from relatives in participating in prevention research (89% (265/299) direct; 86% (248/288) indirect). Direct clinician-led contact maximised response rates. High levels of interest in research across the two recruitment methods suggest that although proband-led methods may maximise privacy, they may deny relatives the opportunity to take part in research that would be of interest.
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Affiliation(s)
- Erin P Reid
- Department of Psychology, Health Psychology Section, Institute of Psychiatry, King's College London, London, UK
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Abstract
With new tools derived from the Human Genome Project, genetic research is expanding from the study of rare, single gene disorders to the evaluation of genetic contributors to common, complex diseases. Many genetic studies include pediatric participants. The ethical concerns related to pediatric participation in genetic research derive from the study designs commonly employed in gene discovery and from the power accorded to genetic prediction in our society. In both family-based studies and large studies combining genetic and other health-related data, special attention should be placed on recruitment procedures, informed consent, and confidentiality protections. If data repositories are created for long-term use, we recommend re-consent of pediatric participants when they reach adulthood. In addition, the potential for disclosure of individual results should be considered as part of the institutional review of genetic studies, taking into account the validity of research data and the potential that such data could be used in health care. The potential for genetic results to pose harms of personal and group stigma is also a consideration. Because genetic information is often accorded special power in our society, careful attention should be paid to how genetic information is collected and used in research involving pediatric participants.
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Affiliation(s)
- Wylie Burke
- Department of Medical History and Ethics, University of Washington, Seattle 98195-7120, USA.
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McMahon WM, Baty BJ, Botkin J. Genetic counseling and ethical issues for autism. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2006; 142C:52-7. [PMID: 16419100 DOI: 10.1002/ajmg.c.30082] [Citation(s) in RCA: 29] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
Abstract
Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges.
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Affiliation(s)
- William M McMahon
- Utah Autism Research Program, University of Utah, 421 Wakara Way, Salt Lake City, UT 84108, USA.
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Peterson SK. The role of the family in genetic testing: theoretical perspectives, current knowledge, and future directions. HEALTH EDUCATION & BEHAVIOR 2005; 32:627-39. [PMID: 16148209 DOI: 10.1177/1090198105278751] [Citation(s) in RCA: 86] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
This article addresses conceptual challenges and theoretical approaches for examining the role of the family in responding and adapting to genetic testing for inherited conditions. Using a family systems perspective, family-based constructs that are relevant to genetic testing may be organized into three domains: family communication, organization and structure of family relationships, and health-related cognitions and beliefs shared within families. Empirical findings are presented from key content areas in family-based genetics research, including family communication, how genetic testing affects family relationships, psychological responses to genetic testing in the family context, and family-based influences on health decisions. Future research should explore decision making about genetic testing or behavior change specifically within the context of the family system and should identify family-based determinants of genetic testing outcomes.
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Affiliation(s)
- Susan K Peterson
- Department of Behavioral Science-Unit1330, University of Texas, M. D. AndersonCancer Center, Houston, TX 77230-1439, USA.
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