Melbourne Law School, University of Melbourne, Carlton, Australia.
Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.
Fam Cancer. 2020 Jul;19(3):273-280. doi: 10.1007/s10689-020-00172-7.
Despite the increased diagnostic yield associated with genomic sequencing (GS), a sizable proportion of patients do not receive a genetic diagnosis at the time of the initial GS analysis. Systematic data reanalysis leads to considerable increases in genetic diagnosis rates yet is time intensive and leads to questions of feasibility. Few policies address whether laboratories have a duty to reanalyse and it is unclear how this impacts clinical practice. To address this, we interviewed 31 genetic health professionals (GHPs) across Europe, Australia and Canada about their experiences with data reanalysis and variant reinterpretation practices after requesting GS for their patients. GHPs described a range of processes required to initiate reanalysis of GS data for their patients and often practices involved a combination of reanalysis initiation methods. The most common mechanism for reanalysis was a patient-initiated model, where they instruct patients to return to the genetic service for clinical reassessment after a period of time or if new information comes to light. Yet several GHPs expressed concerns about patients' inabilities to understand the need to return to trigger reanalysis, or advocate for themselves, which may exacerbate health inequities. Regardless of the reanalysis initiation model that a genetic service adopts, patients' and clinicians' roles and responsibilities need to be clearly outlined so patients do not miss the opportunity to receive ongoing information about their genetic diagnosis. This requires consensus on the delineation of these roles for clinicians and laboratories to ensure clear pathways for reanalysis and reinterpretation to be performed to improve patient care.
尽管基因组测序（GS）的诊断产出有所增加，但仍有相当一部分患者在初始 GS 分析时未获得遗传诊断。系统的数据重新分析会显著提高遗传诊断率，但这需要大量的时间，并且会引发可行性问题。很少有政策涉及实验室是否有义务重新分析，也不清楚这对临床实践有何影响。为了解决这个问题，我们采访了欧洲、澳大利亚和加拿大的 31 名遗传健康专业人员（GHPs），了解他们在为患者请求 GS 后重新分析 GS 数据和重新解释变异的经验。GHPs 描述了为患者启动 GS 数据重新分析所需的一系列流程，并且通常涉及多种重新分析启动方法。最常见的重新分析机制是患者发起的模式，即他们指示患者在一段时间后或有新信息出现时返回遗传服务进行临床重新评估。然而，一些 GHPs 对患者无法理解需要返回触发重新分析的能力或为自己争取权益表示担忧，这可能会加剧健康不平等。无论遗传服务采用哪种重新分析启动模式，都需要明确患者和临床医生的角色和责任，以确保患者不会错过获得其遗传诊断相关信息的机会。这需要在临床医生和实验室之间就这些角色的划定达成共识，以确保为改进患者护理而进行重新分析和重新解释的明确途径。
