Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals

Heather Zierhut, Patricia McCarthy Veach, Bonnie LeRoy

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Public interest in personal whole genome sequencing is increasing. The technology is publicly available and is being used as an educational tool in higher education. Empirical evidence regarding its utility is vital. The goals of this study were to characterize the process of whole genome sequencing in a population of medical and basic science professionals undergoing whole genome sequencing as a part of an educational symposium. Thirty-eight individuals completed one or more surveys from the time of informed consent for whole genome sequencing to 3 months post-symposium. The four surveys assessed demographics, decision-making, communication, decision regret, and personal and professional impact. The most prevalent motivation to participate was professional enhancement, followed by curiosity about the technology, and personal health benefits. The most important initial impact concerned medical implications. Over time, however, impact on professional development was greater than on personal health. Anticipated reactions to receiving whole genome sequencing results generally matched participants' actual reactions and decision regret remained low over time. Benefits and risks of whole genome sequencing included medically actionable results and misunderstanding by healthcare providers. Whole genome sequencing generally had a positive impact professionally and personally on participants. Further education of providers and the public about whole genome sequencing and psychosocial support is warranted.

Original languageEnglish (US)
Pages (from-to)2647-2656
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2015

Bibliographical note

Publisher Copyright:
© 2015 Wiley Periodicals, Inc.


  • Motivations
  • Personal and professional benefits
  • Risks
  • Whole genome sequencing

PubMed: MeSH publication types

  • Journal Article


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