Elective Genomic Sequencing for Adults in Research, Clinical and Commercial Contexts

Authors

• Michael D Linderman
• Sophia M Adelson
• Tala M Berro
• Jennifer L Anderson
• Scott D Crawford
• Tshaka J Cunningham
• Edward D Esplin
• Altovise T Ewing-Crawford
• Daiva E Nielsen
• Stacey Pereira
• Tara Schmidlen
• Heather Andrighetti
• Steven B Bleyl
• George M Church
• Eden V Haverfield
• Madhuri Hegde
• Lazaridis N Konstantinos
• Paul Kruszka
• Debra Leonard
• Thomas May
• Molly McGinniss
• Vaibhav Pandya
• Eric E Schadt
• Bastian Greshake Tzovaras
• Bethany Zettler
• Amy L McGuire
• Robert C Green

Language

English

Publication Date

7-3-2026

Journal

BMC Medical Genomics

DOI

10.1186/s12920-026-02414-6

PMID

42400015

Abstract

Purpose: Elective genomic sequencing (EGS) returns monogenic disease findings in multiple genes, including potentially novel variants, and may also provide participants with carrier status, pharmacogenomic and other health-related information. The PeopleSeq Study assessed participants' motivations for and concerns about EGS and the associated clinical and psychosocial outcomes across diverse EGS providers.

Methods: We administered a shared questionnaire to participants who chose to undergo EGS via 18 academic, clinical, or commercial EGS platforms.

Results: We enrolled 1575 participants, of whom 1147 (72.8%) completed a questionnaire after receiving their EGS results. A majority (60.3%) of the participants who completed a post-result questionnaire self-reported receiving results they assessed as important, including negative findings, and 75.9% reported a form of health-related utility. Among a subset (19.4%) who shared their EGS reports, 16.6% (37 of n = 223) received a monogenic finding and self-reported results deemed "important" were consistent with EGS reports. Most participants (74.1%) discussed their results with their family, but fewer discussed their results with a healthcare provider other than the site team (41.7%) or had one or more medical visits as a direct result of their EGS testing (23.1%). Participants expressed diverse motivations for EGS, with 91.4% expressing interest in their personal disease risk and 54% who expressed quasi-indication-based motivations related to family medical history. Individuals motivated by family history reported important results at a significantly higher rate.

Conclusions: Early adopters of EGS are motivated by general interest in their health as well as quasi-indication-based considerations such as family history. A majority of participants learned results they considered medically important, but a much smaller segment engaged healthcare providers with their results.

Keywords

Genomic testing, Outcomes, Personalized medicine, Return of results

Published Open-Access

yes

Recommended Citation

Linderman, Michael D; Adelson, Sophia M; Berro, Tala M; et al., "Elective Genomic Sequencing for Adults in Research, Clinical and Commercial Contexts" (2026). Center for Medical Ethics and Health Policy Staff Publications. 375.
https://digitalcommons.library.tmc.edu/med_ethics/375