Supporting undiagnosed participants when clinical genomics studies end

Nat Genet. 2022 Aug;54(8):1063-1065. doi: 10.1038/s41588-022-01150-8.


Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions, and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Genomics*
  • Humans
  • Prevalence
  • Research*
  • Risk Factors