Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
New South Wales Health Pathology Randwick Genomics Laboratory, Randwick, New South Wales, Australia.
J Inherit Metab Dis. 2022 Sep;45(5):902-906. doi: 10.1002/jimd.12505. Epub 2022 May 9.
Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of up to hundreds of genes. Such panels typically include numerous genes associated with inborn errors of metabolism (IEM). There are considerable potential benefits for families from screening, but there are also risks and potential pitfalls. The IEM community has a vital role to play in guiding gene selection and assisting with the complexities that arise from screening, including interpreting complex biochemical assays and counselling at-risk couples about phenotypes and treatments.
生殖遗传携带者筛查（RGCS）已有超过 50 年的历史，但在大多数情况下，它仅限于在特定人群中筛查一种或几种疾病。高通量测序的出现使得对多达数百个基因的面板进行筛查得到了快速发展。这些面板通常包括许多与先天性代谢缺陷（IEM）相关的基因。筛查为家庭带来了巨大的潜在利益，但也存在风险和潜在的陷阱。IEM 社区在指导基因选择以及处理筛查过程中出现的复杂性方面发挥着至关重要的作用，包括解释复杂的生化检测以及向有风险的夫妇提供表型和治疗咨询。
