Offering Aggregate Results to Participants in Genomic Research: Opportunities and Challenges

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2012 Jan 21

PMID 22261761

Citations 36

Authors

Laura M Beskow

Wylie Burke

Stephanie M Fullerton

Richard R Sharp

Affiliations

Soon will be listed here.

Abstract

Although issues involved in offering individual results to participants in genomic research have received considerable attention, communication of aggregate results has been the subject of relatively little ethical analysis. Offering participants aggregate results is typically assumed to be a good thing, and studies have found that a significant majority of biobank research participants, when asked about their interest in aggregate results, say that access to such information would be important. Even so, return of aggregate results remains a relatively uncommon practice. In this article, we explore the opportunities involved in communicating aggregate results to participants in genomic research, including affirming the value of research participation, informing participants about research being conducted based on broad consent for future unspecified research, educating participants and the public about the research process, and building trust in the research enterprise. We also explore some of the challenges, including the complex intersection between individual and aggregate results, as well as practical hurdles. We conclude by offering our preliminary recommendations concerning the provision of aggregate results and an agenda for much-needed future research.

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References

Goering S, Holland S, Fryer-Edwards K . Transforming genetic research practices with marginalized communities: a case for responsive justice. Hastings Cent Rep. 2008; 38(2):43-53. DOI: 10.1353/hcr.2008.0027. View

Bookman E, Langehorne A, Eckfeldt J, Glass K, Jarvik G, Klag M . Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A. 2006; 140(10):1033-40. PMC: 2556074. DOI: 10.1002/ajmg.a.31195. View

Ludman E, Fullerton S, Spangler L, Trinidad S, Fujii M, Jarvik G . Glad you asked: participants' opinions of re-consent for dbGap data submission. J Empir Res Hum Res Ethics. 2010; 5(3):9-16. PMC: 3071850. DOI: 10.1525/jer.2010.5.3.9. View

Lemke A, Wolf W, Hebert-Beirne J, Smith M . Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics. 2010; 13(6):368-77. PMC: 2951726. DOI: 10.1159/000276767. View

Kreuter M, Bernhardt J . Reframing the dissemination challenge: a marketing and distribution perspective. Am J Public Health. 2009; 99(12):2123-7. PMC: 2775768. DOI: 10.2105/AJPH.2008.155218. View

McGuire A, Beskow L . Informed consent in genomics and genetic research. Annu Rev Genomics Hum Genet. 2010; 11:361-81. PMC: 3216676. DOI: 10.1146/annurev-genom-082509-141711. View

. OECD guidelines on human biobanks and genetic research databases. Eur J Health Law. 2010; 17(2):191-204. View

Wolf S, Lawrenz F, Nelson C, Kahn J, Cho M, Clayton E . Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics. 2008; 36(2):219-48, 211. PMC: 2575242. DOI: 10.1111/j.1748-720X.2008.00266.x. View

Haga S, Beskow L . Ethical, legal, and social implications of biobanks for genetics research. Adv Genet. 2008; 60:505-44. DOI: 10.1016/S0065-2660(07)00418-X. View

10.

Beskow L, Smolek S . Prospective biorepository participants' perspectives on access to research results. J Empir Res Hum Res Ethics. 2009; 4(3):99-111. PMC: 2892166. DOI: 10.1525/jer.2009.4.3.99. View

11.

Fernandez C, Kodish E, Weijer C . Informing study participants of research results: an ethical imperative. IRB. 2003; 25(3):12-9. View

12.

Chen P, Diaz N, Lucas G, Rosenthal M . Dissemination of results in community-based participatory research. Am J Prev Med. 2010; 39(4):372-8. DOI: 10.1016/j.amepre.2010.05.021. View

13.

Caulfield T . Gene banks and blanket consent. Nat Rev Genet. 2002; 3(8):577. DOI: 10.1038/nrg879. View

14.

Trinidad S, Fullerton S, Bares J, Jarvik G, Larson E, Burke W . Genomic research and wide data sharing: views of prospective participants. Genet Med. 2010; 12(8):486-95. PMC: 3045967. DOI: 10.1097/GIM.0b013e3181e38f9e. View

15.

Contopoulos-Ioannidis D, Ntzani E, Ioannidis J . Translation of highly promising basic science research into clinical applications. Am J Med. 2003; 114(6):477-84. DOI: 10.1016/s0002-9343(03)00013-5. View

16.

Elger B, Caplan A . Consent and anonymization in research involving biobanks: differing terms and norms present serious barriers to an international framework. EMBO Rep. 2006; 7(7):661-6. PMC: 1500833. DOI: 10.1038/sj.embor.7400740. View

17.

Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C . Community engagement and informed consent in the International HapMap project. Community Genet. 2007; 10(3):186-98. DOI: 10.1159/000101761. View

18.

Mascalzoni D, Hicks A, Pramstaller P, Wjst M . Informed consent in the genomics era. PLoS Med. 2008; 5(9):e192. PMC: 2535658. DOI: 10.1371/journal.pmed.0050192. View

19.

Bredenoord A, Kroes H, Cuppen E, Parker M, van Delden J . Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet. 2010; 27(2):41-7. DOI: 10.1016/j.tig.2010.11.004. View

20.

Fabsitz R, McGuire A, Sharp R, Puggal M, Beskow L, Biesecker L . Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet. 2010; 3(6):574-80. PMC: 3090664. DOI: 10.1161/CIRCGENETICS.110.958827. View