Returning findings within longitudinal cohort studies: the 1958 birth cohort as an exemplar

Emerging Themes in Epidemiology

Jane Elliott²  Neil M Walker³  Susan E Wallace¹ 

[1] Department of Health Sciences, University of Leicester, Adrian Building, University Road, LE1 7RH Leicester, UK;Director of Cohorts and Longitudinal Studies Enhancement Resources (CLOSER), Centre for Longitudinal Studies, Institute of Education, London, UK;JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK

关键词: Policy;    Ethics;    Longitudinal population cohort;    Individual genetic research findings;   

Others  :  1093002
DOI  :  10.1186/1742-7622-11-10

 received in 2014-02-26, accepted in 2014-07-24,  发布年份 2014

【 摘 要 】

Population-based, prospective longitudinal cohort studies are considering the issues surrounding returning findings to individuals as a result of genomic and other medical research studies. While guidance is being developed for clinical settings, the process is less clear for those conducting longitudinal research. This paper discusses work conducted on behalf of The UK Cohort and Longitudinal Study Enhancement Resource programme (CLOSER) to examine consent requirements, process considerations and specific examples of potential findings in the context of the 1958 British Birth cohort. Beyond deciding which findings to return, there are questions of whether re-consent is needed and the possible impact on the study, how the feedback process will be managed, and what resources are needed to support that process. Recommendations are made for actions a cohort study should consider taking when making vital decisions regarding returning findings. Any decisions need to be context-specific, arrived at transparently, communicated clearly, and in the best interests of both the participants and the study.

【 授权许可】

   
2014 Wallace et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Knoppers BM, Deschenes M, Zawati MH, Tasse AM: Population studies: return of research results and incidental findings policy statement. Eur J Hum Genet 2013, 21:245-247.
• [2]Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD: Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res 2012, 22:421-428.
• [3]Green ED, Guyer MS: Charting a course for genomic medicine from base pairs to bedside. Nature 2011, 470:204-213.
• [4]Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, Cho MK, Christman MF, Green RC, Hall R, Illes J, Keane M, Knoppers BM, Koenig BA, Kohane IS, Leroy B, Maschke KJ, McGeveran W, Ossorio P, Parker LS, Petersen GM, Richardson HS, Scott JA, Terry SF, Wilfond BS, Wolf WA: Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med 2012, 14:361-384.
• [5]Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG, American College of Medical Genetics and Genomics: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013, 15(7):565-74.
• [6]Emmert-Streib F, Dehmer M: Enhancing systems medicine beyond genotype data by dynamic patient signatures: having information and using it too. Front Genet 2013, 4:241.
• [7]Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T: Managing clinically significant findings in research: the UK10K example. Eur J Hum Genet 2014. doi:10.1038/ejhg2013.1290
• [8]Ravitsky V, Wilfond BS: Disclosing individual genetic results to research participants. Am J Bioethi 2006, 6:8-17.
• [9]Wallace SE, Kent A: Population biobanks and returning individual research results - mission impossible or new directions? Hum Genet 2011, 130:393-401.
• [10]Wellcome Trust Case Control Consortium [http://www.wtccc.org.uk/ webcite]
• [11]Richards M: An ethical review of the use of functional MRI, CLS Working Paper 2011/4. London: Centre for Longitudinal Studies; 2011.
• [12]Wallace SE: Returning Individual Genetic Research Findings in the Context of the National Child Development Study (1958 Birth Cohort): A Briefing Paper. London: Centre for Longitudinal Studies; 2012.
• [13]Framework on the feedback of health-related findings in research [http://www.wellcome.ac.uk/stellent/groups/corporatesite/@policy_communications/documents/web_document/wtp056059.pdf webcite]
• [14]McCarty CA, Garber A, Reeser JC, Fost NC, For the Personalized Medicine Research Project Community Advisory G, Ethics, Security Advisory B: Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank. Am J Med Genet Part A 2011, 155:737-741.
• [15]Bledsoe MJ, Grizzle WE, Clark BJ, Zeps N: Practical implementation issues and challenges for biobanks in the return of individual research results. Genet Med 2012, 14:478-483.
• [16]Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, Meslin EM, Murphy J, Nussbaum RL, Otlowski M, Pullman D, Ray PN, Sugarman J, Timmons M: Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol 2008, 6:e73.
• [17]Assessing Public Attitudes to Health Related Findings in Research [https://www.wellcometrustevents.org/WELLCOME/media/uploaded/EVWELLCOME/event_124/WT%20MRC%20HRF%20report%20%28website%20version%29.pdf webcite]
• [18]Trinidad SB, Fullerton SM, Ludman EJ, Jarvik GP, Larson EB, Burke W: Research practice and participant preferences: the growing gulf. Science 2011, 331:287-288.
• [19]Taylor AW, Dal Grande E, Grant J, Appleton S, Gill TK, Shi Z, Adams RJ: Weighting of the data and analytical approaches may account for differences in overcoming the inadequate representativeness of the respondents to the third wave of a cohort study. J Clin Epidemiol 2013, 66:461-464.
• [20]Stegmayr B, Asplund K: Informed consent for genetic research on blood stored for more than a decade: a population based study. BMJ 2002, 325:634-635.
• [21]Caulfield T, Knoppers BM: Consent, privacy and research biobanks. In GPS: Where Genomics, Public Policy and Society Meet. Policy Brief No. 1 edition. Ottawa: Genome Canada; 2010.
• [22]Berg JS, Khoury MJ, Evans JP: Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics Med 2011, 13:499-504. 410.1097/GIM.1090b1013e318220aaba
• [23]Wierzbicki AS, Humphries SE, Minhas R: Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008, 337:a1095.
• [24]Rahman S, Ecob R, Costello H, Sweeney MG, Duncan AJ, Pearce K, Strachan D, Forge A, Davis A, Bitner-Glindzicz M: Hearing in 44–45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. BMJ Open 2012, 2:e000411.
• [25]Babiker ZOE: Aminoglycosides: putting risk in perspective. BMJ Rapid Response 2007. 335:784.
• [26]Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V: Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 2011, 43:1193-1201.
• [27]Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ: Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2012, 14:405-410.
• [28]Fullerton SM, Wolf WA, Brothers KB, Clayton EW, Crawford DC, Denny JC, Greenland P, Koenig BA, Leppig KA, Lindor NM, McCarty CA, McGuire AL, McPeek Hinz ER, Mirel DB, Ramos EM, Ritchie MD, Smith ME, Waudby CJ, Burke W, Jarvik GP: Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med 2012, 14:424-431.
• [29]Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow MJ, Cano C, Chou MF, Chung WK, Douglas SM, Estep PW, Gore A, Hulick P, Labarga A, Lee JH, Lunshof JE, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters BA, Raman AM, Rienhoff HY, Robasky K, Wheeler MT: A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A 2012, 109:11920-11927.
• [30]Solomon BD, Nguyen A-D, Bear KA, Wolfsberg TG: Clinical genomic database. Proc Natl Acad Sci U S A 2013, 110(24):9851-9855.
• [31]Wallace SE: The needle in the haystack: international consortia and the return of individual research results. J Law Med Ethics 2011, 39:631-639.
• [32]Weiss MM, Van der Zwaag B, Jongbloed JDH, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CAL, Van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N: Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat 2013, 34:1313-1321.
• [33]Klitzman R: Misunderstandings concerning genetics among patients confronting genetic disease. J Genet Couns 2010, 19:430-446.
• [34]Christensen KD, Roberts JS, Shalowitz DI, Everett JN, Kim SYH, Raskin L, Gruber SB: Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchers. Cancer Epidemiol Biomarkers Prev 2011, 20:522-529.
• [35]Ozao-Choy J, Kim U, Vieux U, Menes TS: Incidental findings on computed tomography scans for acute appendicitis: prevalence, costs, and outcome. Am Surg 2011, 77:1502-1509.
• [36]Points to Consider in the Transition Toward Whole-Genome Sequencing in Human Subjects Research [http://www.genome.gov/Pages/Research/Intramural/IRB/WES-WGS_Points_to_Consider.pdf webcite]
• [37]Ethical Conduct for Research Involving Humans [http://www.pre.ethics.gc.ca/pdf/eng/tcps2/TCPS_2_FINAL_Web.pdf webcite]
• [38]Forsberg JS, Hansson MG, Eriksson S: Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet 2009, 17:1544-1549.
• [39]Kaye J, Whitley EA, Lund D, Morrison M, Teare H, Melham K: Dynamic consent: a patient interface for twenty-first century research networks. Eur J Hum Genet 2014. doi:10.1038/ejhg.2014.71
• [40]Steinsbekk KS, Kare Myskja B, Solberg B: Broad consent versus dynamic consent in biobank research: is passive participation an ethical problem[quest]. Eur J Hum Genet 2013, 21(9):897-902.
• [41]Murphy J, Scott J, Kaufman D, Geller G, LeRoy L, Hudson K: Public expectations for return of results from large-cohort genetic research. Am J Bioethi 2008, 8:36-43.