Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?

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 semi-structured interviews with researchers leading studies enrolling undiagnosed patients in the United States and Canada and utilized 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: While 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.