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Purpose <p>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.</p> Methods <p>We administered a shared questionnaire to participants who chose to undergo EGS via 18 academic, clinical, or commercial EGS platforms.</p> Results <p>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 <i>n</i> = 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.</p> Conclusions <p>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.</p>

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Elective genomic sequencing for adults in research, clinical and commercial contexts

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月3日

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  • 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,
  • Jane Juusola,
  • Kirsty McWalter,
  • Steven Bleyl,
  • Ed Esplin,
  • Eden Haverfield,
  • Lazaridis Konstantinos,
  • Jennifer Anderson,
  • Allison Hazell,
  • Jessica Gu,
  • Jennifer Hogan,
  • George Church,
  • Madeleine Ball,
  • Molly McGinnis,
  • Eric Schadt,
  • Michael Linderman,
  • Amy McGuire,
  • Kurt Christensen,
  • Daiva E. Nielsen,
  • Thomas Caskey,
  • Emilie Zoltick,
  • Tala Berro,
  • Sophia Adelson,
  • Scott Crawford,
  • Robert Young,
  • Jillian Hunsanger,
  • Sophia Bradley,
  • Tshaka Cunningham,
  • Altovise Ewing-Crawford,
  • Scott Roberts,
  • Luisel Ricks-Santi,
  • James Lillard Jr.,
  • Kareem Washington,
  • Anthony Johnson

摘要

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.