Research Participants' Perspectives on Genotype-driven Research Recruitment

Overview

Journal J Empir Res Hum Res Ethics

Specialty Medical Ethics

Date 2012 Jan 10

PMID 22228056

Citations 16

Authors

Laura M Beskow

Emily E Namey

R Jean Cadigan

Tracy Brazg

Julia Crouch

Gail E Henderson

Marsha Michie

Daniel K Nelson

Holly K Tabor

Benjamin S Wilfond

Affiliations

Soon will be listed here.

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.

Citing Articles

How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.

Tschigg K, Consoli L, Bruggemann N, Hicks A, Staunton C, Mascalzoni D J Community Genet. 2024; 15(6):615-630.

PMID: 39325315 PMC: 11645387. DOI: 10.1007/s12687-024-00733-8.

Genotype first: Clinical genomics research through a reverse phenotyping approach.

Wilczewski C, Obasohan J, Paschall J, Zhang S, Singh S, Maxwell G Am J Hum Genet. 2023; 110(1):3-12.

PMID: 36608682 PMC: 9892776. DOI: 10.1016/j.ajhg.2022.12.004.

Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study.

Biasiotto R, Kosters M, Tschigg K, Pramstaller P, Bruggemann N, Borsche M Eur J Hum Genet. 2023; 31(11):1218-1227.

PMID: 36599941 PMC: 10620385. DOI: 10.1038/s41431-022-01277-6.

Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review.

Tschigg K, Consoli L, Biasiotto R, Mascalzoni D Eur J Hum Genet. 2022; 30(9):1000-1010.

PMID: 35705790 PMC: 9437022. DOI: 10.1038/s41431-022-01120-y.

Balancing scientific interests and the rights of participants in designing a recall by genotype study.

Mascalzoni D, Biasiotto R, Borsche M, Bruggemann N, De Grandi A, Goegele M Eur J Hum Genet. 2021; 29(7):1146-1157.

PMID: 33981014 PMC: 8298596. DOI: 10.1038/s41431-021-00860-7.

References

Ormond K, Cirino A, Helenowski I, Chisholm R, Wolf W . Assessing the understanding of biobank participants. Am J Med Genet A. 2009; 149A(2):188-98. DOI: 10.1002/ajmg.a.32635. View

Kaufman D, Murphy J, Scott J, Hudson K . Subjects matter: a survey of public opinions about a large genetic cohort study. Genet Med. 2008; 10(11):831-9. DOI: 10.1097/GIM.0b013e31818bb3ab. View

McGuire S, McGuire A . Don't throw the baby out with the bathwater: enabling a bottom-up approach in genome-wide association studies. Genome Res. 2008; 18(11):1683-5. PMC: 3960009. DOI: 10.1101/gr.083584.108. View

Beskow L, Botkin J, Daly M, Juengst E, Lehmann L, Merz J . Ethical issues in identifying and recruiting participants for familial genetic research. Am J Med Genet A. 2004; 130A(4):424-31. DOI: 10.1002/ajmg.a.30234. View

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 Bioeth. 2008; 8(11):36-43. PMC: 2682364. DOI: 10.1080/15265160802513093. 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

Wendler D, Emanuel E . The debate over research on stored biological samples: what do sources think?. Arch Intern Med. 2002; 162(13):1457-62. DOI: 10.1001/archinte.162.13.1457. View

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

Green R, Roberts J, Cupples L, Relkin N, Whitehouse P, Brown T . Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med. 2009; 361(3):245-54. PMC: 2778270. DOI: 10.1056/NEJMoa0809578. View

10.

Chulada P, Vahdat H, Sharp R, DeLozier T, Watkins P, Pusek S . The Environmental Polymorphisms Registry: a DNA resource to study genetic susceptibility loci. Hum Genet. 2008; 123(2):207-14. DOI: 10.1007/s00439-007-0457-5. View

11.

Beskow L, Linney K, Radtke R, Heinzen E, Goldstein D . Ethical challenges in genotype-driven research recruitment. Genome Res. 2010; 20(6):705-9. PMC: 2877567. DOI: 10.1101/gr.104455.109. View

12.

Beskow L, Burke W, Fullerton S, Sharp R . Offering aggregate results to participants in genomic research: opportunities and challenges. Genet Med. 2012; 14(4):490-6. PMC: 3612423. DOI: 10.1038/gim.2011.62. View

13.

Meulenkamp T, Gevers S, Bovenberg J, Koppelman G, van Hylckama Vlieg A, Smets E . Communication of biobanks' research results: what do (potential) participants want?. Am J Med Genet A. 2010; 152A(10):2482-92. DOI: 10.1002/ajmg.a.33617. View

14.

. The Belmont Report. Ethical principles and guidelines for the protection of human subjects of research. J Am Coll Dent. 2015; 81(3):4-13. View

15.

Namey E, Beskow L . Epilepsy patient-participants and genetic research results as "answers". J Empir Res Hum Res Ethics. 2012; 6(4):21-9. PMC: 3399113. DOI: 10.1525/jer.2011.6.4.21. View

16.

Beskow L, Namey E, Miller P, Nelson D, Cooper A . IRB chairs' perspectives on genotype-driven research recruitment. IRB. 2012; 34(3):1-10. PMC: 3632007. View

17.

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

18.

Cadigan R, Michie M, Henderson G, Davis A, Beskow L . The meaning of genetic research results: reflections from individuals with and without a known genetic disorder. J Empir Res Hum Res Ethics. 2012; 6(4):30-40. PMC: 3386306. DOI: 10.1525/jer.2011.6.4.30. View

19.

Tabor H, Brazg T, Crouch J, Namey E, Fullerton S, Beskow L . Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment. J Empir Res Hum Res Ethics. 2012; 6(4):41-52. PMC: 3426316. DOI: 10.1525/jer.2011.6.4.41. View