Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Genet Med. 2022 Sep;24(9):1888-1898. doi: 10.1016/j.gim.2022.04.024. Epub 2022 May 25.
Emerging genetic tests such as genomic sequencing (GS) can generate a broad range of benefits, but funding criteria only prioritize diagnosis and clinical management. There is limited evidence on all types of benefits obtained from GS in practice. We aimed to explore real-world experiences of Canadian clinicians across specialties on the full range of benefits obtained from the results from GS.
We conducted a qualitative study using semistructured interviews with Canadian clinicians. Transcripts were thematically analyzed using constant comparison.
In total, 25 clinicians participated, including 12 geneticists, 7 genetic counselors, 4 oncologists, 1 neurologist, and 1 family physician. Although diagnoses and management were the most valued benefits of GS, clinicians also prioritized nontraditional utility, such as access to community supports. However, clinicians felt "restricted" by funding bodies, which only approved funding when GS would inform diagnoses and management. Consequently, clinicians sought ways to "cheat the system" to access GS (eg, research testing) but acknowledged workarounds were burdensome, drove inequity, and undermined patient care.
Current governance structures undervalue real-world benefits of GS leading clinicians to adopt workarounds, which jeopardize patient care. These results support calls for the expansion of the definition of clinical utility and research to quantify the additional benefits.
新兴的基因检测，如基因组测序（GS），可以带来广泛的益处，但资金标准仅优先考虑诊断和临床管理。关于在实践中从 GS 获得的所有类型的益处，证据有限。我们旨在探索加拿大各专业临床医生对从 GS 结果中获得的全方位益处的真实体验。
我们使用半结构式访谈对加拿大临床医生进行了定性研究。使用恒定比较对转录本进行主题分析。
共有 25 名临床医生参与，包括 12 名遗传学家、7 名遗传咨询师、4 名肿瘤学家、1 名神经学家和 1 名家庭医生。尽管诊断和管理是 GS 的最有价值的益处，但临床医生也优先考虑非传统的实用性，例如获得社区支持。然而，临床医生感到受到资金机构的“限制”，只有当 GS 能够为诊断和管理提供信息时，才会批准资金。因此，临床医生寻求“欺骗系统”来获得 GS（例如，研究测试）的方法，但承认变通方法繁琐、造成不公平，并破坏患者护理。
当前的治理结构低估了 GS 的实际益处，导致临床医生采用变通方法，从而危及患者护理。这些结果支持扩大临床实用性和研究的定义，以量化额外的益处。
