A survey of aortic disease biorepository participants' preferences for return of research genetic results

Jamie Love-Nichols; Wendy R Uhlmann; Patricia Arscott; Cristen Willer; Whitney Hornsby; J Scott Roberts

doi:10.1002/jgc4.1341

A survey of aortic disease biorepository participants' preferences for return of research genetic results

J Genet Couns. 2021 Jun;30(3):645-655. doi: 10.1002/jgc4.1341. Epub 2020 Dec 14.

Authors

Jamie Love-Nichols¹, Wendy R Uhlmann^{2

3

4}, Patricia Arscott³, Cristen Willer^{2

3

5}, Whitney Hornsby³, J Scott Roberts^{4

6}

Affiliations

¹ Department of Genetics, Seattle Children's Hospital, Seattle, WA, USA.
² Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
³ Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
⁴ Center for Bioethics and Social Sciences in Medicine, University of Michigan, Ann Arbor, MI, USA.
⁵ Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.
⁶ Department of Health Behavior and Health Education, School of Public Health, University of Michigan, Ann Arbor, MI, USA.

Abstract

There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n = 225, 79% male, mean age = 61 years) with an aortopathy were surveyed to assess preferences for receiving research genetic results. Participants were 'very' or 'extremely likely' to want results for pathogenic variants in aortopathy genes with implications for family members (81%) or that would change medical management (76%). Similarly, participants were 'very' or 'extremely likely' to want actionable secondary findings related to cancer (75%) or other cardiac diseases (70%). Significantly lower interest was observed for non-actionable findings-pathogenic variants in aortopathy genes that would not change medical management (51%) and variants of uncertain significance (38%) (p < .0001). Higher health and genomic literacy were positively associated with interest in actionable findings. Most participants (>63%) were accepting of any means of return; however, a substantial minority (18%-38%) deemed certain technological means unacceptable (e.g., patient portal). Over 90% of participants reported that a range of health professionals, including cardiovascular specialists, genetics specialists, and primary care providers, were acceptable to return results. Participants with aortopathies are highly interested in research genetic results perceived to be medically actionable for themselves or family members. Participants are accepting of a variety of means for returning results. Findings suggest that research participants should be asked what results are preferred at time of informed consent and that genetic counseling may clarify implications of results that are not personally medically actionable.

Trial registration: ClinicalTrials.gov NCT02306200.

Keywords: aortic disease; biobank; research genetic results; service delivery models; variants of uncertain significance.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Aortic Diseases*
Female
Genetic Counseling
Genomics
Humans
Infant, Newborn
Male
Neoplasms*
Surveys and Questionnaires

Associated data

ClinicalTrials.gov/NCT02306200

Abstract

Publication types

MeSH terms

Associated data

Grants and funding