Mighton Chloe, Shickh Salma, Aguda Vernie, Krishnapillai Suvetha, Adi-Wauran Ella, Bombard Yvonne
Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Front Genet. 2022 Oct 24;13:893832. doi: 10.3389/fgene.2022.893832. eCollection 2022.
Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.
鉴于目前使用现有策略对高危且可采取行动的遗传疾病，尤其是遗传性乳腺癌和卵巢癌（HBOC）、林奇综合征（LS）和家族性高胆固醇血症（FH）的检测不足，基因组医学正从关注个体患者的诊断扩展到群体层面的预防。针对这些疾病的大规模下一代测序策略和预防方案的出现，使得通过基于公共卫生的方法对无症状个体进行筛查变得越来越可行，而不是将检测局限于高危人群。这再次迫切地引发了关于筛查的局限性以及在群体层面筛查遗传疾病的道德权威和能力的问题。我们旨在通过使用世界卫生组织的威尔逊和荣格纳标准来指导对HBOC、LS和FH群体基因组筛查的现有证据进行综合分析，以回答其中一些关键问题。
