Research Participant Perceptions of Personal Utility in Disclosure of Individual Research Results from Genomic Analysis

Overview

Journal J Community Genet

Publisher Springer

Specialty Health Services

Date 2024 Sep 18

PMID 39292430

Authors

Brenda Bogaert

Marie-Josee Crevier

Cindy Roth

Ralf J Jox

Gaia Barazzetti

Affiliations

Soon will be listed here.

Abstract

This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.

References

Blasimme A, Brall C, Vayena E . Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network. Front Genet. 2020; 11:585820. PMC: 7759560. DOI: 10.3389/fgene.2020.585820. View

Fellmann F, van El C, Charron P, Michaud K, Howard H, Boers S . European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet. 2019; 27(12):1763-1773. PMC: 6870982. DOI: 10.1038/s41431-019-0445-y. View

Wright M, Lewis K, Fisher T, Hooker G, Emanuel T, Biesecker L . Preferences for results delivery from exome sequencing/genome sequencing. Genet Med. 2013; 16(6):442-7. PMC: 4597884. DOI: 10.1038/gim.2013.170. View

Parker M, Lucassen A . Using a genetic test result in the care of family members: how does the duty of confidentiality apply?. Eur J Hum Genet. 2018; 26(7):955-959. PMC: 6018806. DOI: 10.1038/s41431-018-0138-y. View

Pullman D, Hodgkinson K . Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice. Clin Genet. 2006; 69(3):199-203. DOI: 10.1111/j.1399-0004.2006.00581.x. View

Christenhusz G, Devriendt K, Dierickx K . To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet. 2012; 21(3):248-55. PMC: 3573190. DOI: 10.1038/ejhg.2012.130. View

Wolf S, Branum R, Koenig B, Petersen G, Berry S, Beskow L . Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations. J Law Med Ethics. 2015; 43(3):440-63. PMC: 4617203. DOI: 10.1111/jlme.12288. View

Barazzetti G, Kaufmann A, Benaroyo L . [Ethical and social issues associated with genomic medicine]. Praxis (Bern 1994). 2014; 103(10):573-7. DOI: 10.1024/1661-8157/a001656. View

Dressler L . Disclosure of research results from cancer genomic studies: state of the science. Clin Cancer Res. 2009; 15(13):4270-6. DOI: 10.1158/1078-0432.CCR-08-3067. View

10.

Sanderson S, Linderman M, Suckiel S, Zinberg R, Wasserstein M, Kasarskis A . Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project. Eur J Hum Genet. 2017; 25(3):280-292. PMC: 5315514. DOI: 10.1038/ejhg.2016.178. View

11.

Fellmann F, Rial-Sebbag E, Patch C, Hentze S, Stefandottir V, Mendes A . ESHG PPPC Comments on postmortem use of genetic data for research purposes. Eur J Hum Genet. 2019; 28(2):144-146. PMC: 6974591. DOI: 10.1038/s41431-019-0525-z. View

12.

Thorogood A, Dalpe G, Knoppers B . Return of individual genomic research results: are laws and policies keeping step?. Eur J Hum Genet. 2019; 27(4):535-546. PMC: 6460582. DOI: 10.1038/s41431-018-0311-3. View

13.

Pollard S, Sun S, Regier D . Balancing uncertainty with patient autonomy in precision medicine. Nat Rev Genet. 2019; 20(5):251-252. DOI: 10.1038/s41576-019-0111-9. View

14.

de Wert G, Dondorp W, Clarke A, Dequeker E, Cordier C, Deans Z . Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2020; 29(3):365-377. PMC: 7940405. DOI: 10.1038/s41431-020-00758-w. View

15.

Daack-Hirsch S, Driessnack M, Hanish A, Johnson V, Shah L, Simon C . 'Information is information': a public perspective on incidental findings in clinical and research genome-based testing. Clin Genet. 2013; 84(1):11-8. PMC: 4334458. DOI: 10.1111/cge.12167. View

16.

Char D, Lee S, Magnus D, Cho M . Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease. Genet Med. 2018; 20(11):1455-1461. PMC: 6119522. DOI: 10.1038/gim.2018.25. View

17.

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

18.

Hennink M, Kaiser B . Sample sizes for saturation in qualitative research: A systematic review of empirical tests. Soc Sci Med. 2021; 292:114523. DOI: 10.1016/j.socscimed.2021.114523. View

19.

Kohler J, Turbitt E, Biesecker B . Personal utility in genomic testing: a systematic literature review. Eur J Hum Genet. 2017; 25(6):662-668. PMC: 5477355. DOI: 10.1038/ejhg.2017.10. View

20.

Middleton A, Morley K, Bragin E, Firth H, Hurles M, Wright C . Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur J Hum Genet. 2015; 24(1):21-9. PMC: 4795240. DOI: 10.1038/ejhg.2015.58. View