作者
Karen M Meagher, Jonathan S Berg
发表日期
2018/9
来源
Personalized Medicine
卷号
15
期号
5
页码范围
343-346
出版商
Future Medicine Ltd
简介
Preventive screening for rare, actionable monogenic disorders is among the armamentarium of tools that might be useful for personalized patient care. Currently, genetic testing is clinically indicated for patients with a strong personal or family history of heritable disease, or related symptoms [1]. However, these tests (even genome-scale sequencing) are increasingly being offered to asymptomatic patients without clinical indications–and consequently the list of potential results from these tests is expanding dramatically. As such efforts scale up, they can begin to approximate proposals for genomic screening in the general population [2]. Although typically articulated in terms of personalized benefits to individual patients, the underlying approach to early detection also permits precision initiatives to target interventions to high-risk groups. Thus, the programmatic success of preventive genomic screening (PGS) can be …
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