Genomics Health Services & Policy Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Institute of Health Policy, Management & Evaluation, University of Toronto, Toronto, Ontario, Canada.
J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22.
Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients. Resource and capacity constraints pose a challenge to their clinical management; therefore, clinical workflows are needed to optimise the health benefits of SFs. In this paper, we describe a model we created for the return and referral of all clinically significant SFs, beyond medically actionable results, from GS. As part of a randomised controlled trial evaluating the outcomes and costs of disclosing all clinically significant SFs from GS, we consulted genetics and primary care experts to determine a feasible workflow to manage SFs. Consensus was sought to determine appropriate clinical recommendations for each category of SF and which clinician specialist would provide follow-up care. We developed a communication and referral plan for each category of SFs. This involved referrals to specialised clinics, such as an Adult Genetics clinic, for highly penetrant medically actionable findings. Common and non-urgent SFs, such as pharmacogenomics and carrier status results for non-family planning participants, were directed back to the family physician (FP). SF results and recommendations were communicated directly to participants to respect autonomy and to their FPs to support follow-up of SFs. We describe a model for the return and referral of all clinically significant SFs to facilitate the utility of GS and promote the health benefits of SFs. This may serve as a model for others returning GS results transitioning participants from research to clinical settings.
通过基因组测序（GS）发现的次要发现（SFs）可以为患者提供广泛的健康益处。资源和能力的限制对其临床管理构成了挑战；因此，需要临床工作流程来优化 SFs 的健康益处。在本文中，我们描述了一个模型，用于从 GS 中返回和转介所有具有临床意义的 SFs，而不仅仅是有医学作用的结果。作为一项评估从 GS 披露所有具有临床意义的 SFs 的结果和成本的随机对照试验的一部分，我们咨询了遗传学和初级保健专家，以确定一种可行的工作流程来管理 SFs。为确定每个 SF 类别适当的临床建议以及哪位临床专家将提供后续护理，我们征求了共识。我们为每个 SF 类别制定了沟通和转介计划。这包括将具有高度外显率的有医学作用的发现转介到专门的诊所，如成人遗传诊所。常见且不紧急的 SFs，如非计划生育参与者的药物基因组学和携带者状态结果，被转介回家庭医生（FP）。SF 结果和建议直接传达给参与者，以尊重自主权，并传达给他们的 FP，以支持 SF 的后续行动。我们描述了一种模型，用于返回和转介所有具有临床意义的 SFs，以促进 GS 的实用性并促进 SFs 的健康益处。这可以作为将 GS 结果返回给其他人的模型，将参与者从研究过渡到临床环境。
