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.
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Financial support for this work was provided by the National Institutes of Health Common Fund, Office of the Director, as an administrative supplement to grant number U01HG010218-03S2 (E.A.A.). M.C.H. also is supported by the National Human Genome Research Institute grant number K01HG011341, and H.K.T. also is supported by the National Center for Advancing Translational Science grant number UL1TR003142.
E.A.A. is co-founder to Personalis, DeepCell and Svexa; non-executive director to AstraZeneca; and advisor to Genome Medical, Sequence Bio, Apple and Foresite Capital. As a volunteer, M.C.H. is co-chair of the Undiagnosed Diseases Network Patient Education and Empowerment Resource and is a member of the Board of Directors of the Undiagnosed Diseases Network Foundation; both roles are uncompensated. H.K.T. declares no competing interests.
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Halley, M.C., Ashley, E.A. & Tabor, H.K. Supporting undiagnosed participants when clinical genomics studies end. Nat Genet 54, 1063–1065 (2022). https://doi.org/10.1038/s41588-022-01150-8