Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it? Genet Med 2025 Aug;27(8):101458
Date
05/25/2025Pubmed ID
40411343Pubmed Central ID
PMC12318661DOI
10.1016/j.gim.2025.101458Scopus ID
2-s2.0-105008959663 (requires institutional sign-in at Scopus site)Abstract
PURPOSE: Genomics research enrolling undiagnosed patients can provide answers for one-third of participants, and more can be diagnosed through future reanalysis. The long-term value for participants has raised questions of the sustainability of these studies, but the meaning, goals, and best practices for sustainability remain unclear.
METHODS: We conducted semistructured interviews with researchers leading studies enrolling undiagnosed patients in the United States and Canada and used thematic content analysis to summarize key themes.
RESULTS: Researchers lacked consensus regarding what sustainability was actually intended to sustain, variably referencing study procedures, personnel, data access, and participant recontact. However, the primary driver of sustainability was widely shared as the perceived obligation to continue to search for answers for undiagnosed participants. Proposed sustainability strategies included diversifying funding sources, developing centralized data infrastructure, and building collaborations across disciplines and institutions. Researchers also emphasized the need to address ethical concerns, to integrate research with clinical care, and for leadership from research funders to guide these efforts.
CONCLUSION: Although genomics researchers perceived continued obligations to undiagnosed participants, they also lacked a shared understanding of the goals of sustainability and called for coordinated efforts to develop centralized infrastructure that integrated research and clinical care.
Author List
Young JL, Tang C, Liang L, Ashley EA, Tabor HK, Halley MCAuthor
Meghan C. Halley PhD, BA, MPH Assistant Professor in the Institute for Health and Humanity department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
CanadaGenomics
Humans
Research Personnel
United States
