Young Jennifer L, Tang Charis, Liang Lily, Ashley Euan A, Tabor Holly K, Halley Meghan C
Center for Genetic Medicine, Northwestern University, Evanston, IL.
School of Law, University of California, Irvine, CA.
Genet Med. 2025 Aug;27(8):101458. doi: 10.1016/j.gim.2025.101458. Epub 2025 May 21.
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.
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.
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.
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.
招募未确诊患者的基因组学研究可为三分之一的参与者提供答案，并且通过未来的重新分析还能诊断出更多患者。对参与者的长期价值引发了这些研究可持续性的问题，但可持续性的意义、目标和最佳实践仍不明确。
我们对在美国和加拿大开展招募未确诊患者研究的研究人员进行了半结构化访谈，并使用主题内容分析来总结关键主题。
研究人员对于可持续性实际旨在维持的内容缺乏共识，他们对研究程序、人员、数据获取和再次联系参与者等方面的提及各不相同。然而，可持续性的主要驱动因素被广泛认为是继续为未确诊参与者寻找答案的责任感。提议的可持续性策略包括使资金来源多样化、开发集中式数据基础设施以及建立跨学科和机构的合作。研究人员还强调需要解决伦理问题，将研究与临床护理相结合，以及需要研究资助者发挥领导作用来指导这些工作。
尽管基因组学研究人员认为对未确诊参与者负有持续的责任，但他们对可持续性目标也缺乏共同的理解，并呼吁做出协调努力以开发整合研究与临床护理的集中式基础设施。
