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.

中文翻译：

---

遗传健康专业人员在重新分析基因组序列数据方面的经验。

尽管与基因组测序（GS）相关的诊断产率有所提高，但仍有相当一部分患者在最初的GS分析时没有接受基因诊断。系统的数据重新分析导致遗传诊断率的显着提高，但是这是时间密集的，并带来了可行性问题。很少有政策能够解决实验室是否有责任进行重新分析，目前尚不清楚这如何影响临床实践。为了解决这个问题，我们在请求患者提供GS后，采访了欧洲，澳大利亚和加拿大的31名遗传健康专业人员（GHP），了解他们在数据重新分析和变体重新解释实践方面的经验。GHP描述了为患者启动GS数据重新分析所需的一系列过程，并且实践常常涉及重新分析启动方法的组合。重新分析的最常见机制是患者启动的模型，该模型会指示患者在一段时间后或发现新信息后返回遗传服务进行临床重新评估。然而，一些GHP对患者无法理解需要返回以触发重新分析或自行辩护的担忧表示担忧，这可能加剧健康不平等。不管遗传服务采用哪种重新分析启动模型，都需要清楚地概述患者和临床医生的角色和职责，以使患者不要错过机会来获得有关其基因诊断的持续信息。