Recommendations for returning genomic incidental findings? We need to talk!
Recommendations for returning genomic incidental findings? We need to talk!
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DOI：
10.1038/gim.2013.113
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发表时间：
2013-11
期刊：
影响因子：
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美国医学遗传学和基因组学学院最近发布了报告临床全基因组测序和全外显子组测序偶然发现的建议。建议要求评估一组特定基因，作为所有全基因组测序/全外显子组测序的一部分，并报告所有致病变异，而不考虑患者年龄。这些基因与可治疗或预防的高渗透性疾病有关。产生一份具有可操作发现的基因清单的努力是值得赞扬的，但这些建议引起了一些关注。它们构成了对机会性筛查的呼吁，通过有意的努力来识别与促使检测的临床关注无关的特定基因的致病变异。然而，对于大多数基因，我们缺乏关于检测的预测价值、基因型外显率、表型谱和干预在非选择人群中的有效性的证据。此外，这些建议不允许患者拒绝额外的检查结果，这与既定规范不一致。最后，当儿童接受检测时，将成人发病的疾病结果报告的建议与目前的专业共识不一致，包括美国医学遗传学和基因组学学院的其他政策声明。我们不建议过早提出实践建议，而是呼吁利益攸关方之间开展强有力的对话，以确定制定规范合理、以证据为基础的指南的途径。
The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
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通讯作者：
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影响因子：
8.8
作者：
Pyeritz, Reed E.
通讯作者：
Pyeritz, Reed E.
DOI：
10.1038/gim.2013.11
发表时间：
2013-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Evans JP;Berg JS;Olshan AF;Magnuson T;Rimer BK
通讯作者：
Rimer BK
影响因子：
5.5
作者：
Harris, Russell
通讯作者：
Harris, Russell
影响因子：
168.9
作者：
COLLINS, R;PETO, R;HENNEKENS, CH
通讯作者：
HENNEKENS, CH