论文标题
ACMG陈述的通讯：ACMG SF v3.0列表，用于报告临床外显子和基因组测序中次要发现的列表：Miller等人的美国医学遗传与基因组学学院（ACMG）的政策声明
Correspondence on ACMG STATEMENT: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller et al
论文作者
论文摘要
我们有兴趣阅读有关临床测序中次要发现的建议的最新更新，以及随附的最新基因列表，其中应寻求次要发现（ACMG SF v3.0）2。尽管作者详细讨论了围绕不完整的渗透率讨论挑战，但我们担心这些建议并未完全传达与遗传性心肌病相关的基因中变体的渗透性的不确定性程度，这些基因几乎构成了列表的几乎四分之一。由于渗透率不完整且与年龄有关，因此发现携带变体的个体通常需要监视，而不是一次性的确定诊断评估。缺乏有关与机会筛查相关的收益，危害和医疗费用的证据。
We were interested to read the recent update on recommendations for reporting of secondary findings in clinical sequencing1, and the accompanying updated list of genes in which secondary findings should be sought (ACMG SF v3.0)2. Though the authors discuss challenges around incomplete penetrance in considerable detail, we are concerned that the recommendations do not fully convey the degree of uncertainty regarding the penetrance of variants in genes associated with inherited cardiomyopathies, which make up almost a quarter of the list. Since penetrance is incomplete and age-related, individuals found to carry variants will often require surveillance, rather than a one-off definitive diagnostic assessment. There is a lack of evidence regarding benefits, harms, and healthcare costs associated with opportunistic screening.
