ACMG STATEMENT上的通信：ACMG SF v3 .0临床外显子组和基因组测序次要发现报告列表：美国医学遗传学和基因组学学院（ACMG）的政策声明，Miller等人
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
摘要：
我们有兴趣阅读最近更新的关于临床测序中报告次要结果的建议1，以及随附的应寻求次要结果的基因更新列表（ACMG SF v3.0）2。虽然作者相当详细地讨论了不完全突变的挑战，但我们担心这些建议并没有完全传达与遗传性心肌病相关的基因变异的不确定性程度，这些基因占该列表的近四分之一。由于突变是不完全的，并且与年龄有关，发现携带变异的个体通常需要监测，而不是一次性的明确诊断评估。目前缺乏证据证明机会性筛查的益处、危害和医疗成本。
英文摘要：
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.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
