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

Supporting undiagnosed participants when clinical genomics studies end

Meghan C Halley  1 , Euan A Ashley  2 , Holly K Tabor  3   4
Affiliations

Supporting undiagnosed participants when clinical genomics studies end

Meghan C Halley et al. Nat Genet. 2022 Aug.

Abstract

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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Conflict of interest statement

Competing interests

EAA is co-founder to Personalis, DeepCell, Svexa; non-executive director to AstraZeneca and advisor to Genome Medical, Sequence Bio, Apple, Foresite Capital. As a volunteer, MCH is the co-chair of the Undiagnosed Diseases Network Patient Education and Empowerment Resource and a member of the Board of Directors of the Undiagnosed Diseases Network Foundation. Both roles are uncompensated. HKT declares no competing interests.

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