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儿科初级保健中的遗传和基因组知识。

Genetic and genomic literacy in pediatric primary care.

机构信息

FAAP, FACMG, Children's Hospital, Greenville Health System, 701 Grove Rd, Greenville, SC 29605.

出版信息

Pediatrics. 2013 Dec;132(Suppl 3):S198-202. doi: 10.1542/peds.2013-1032C.

Abstract

A colloquium on genetic literacy in pediatric primary care sponsored by the Health Resources and Services Administration Maternal and Child Health Bureau was held at the American Academy of Pediatrics headquarters on October 2-3, 2012. The overarching goal of the colloquium was to provide context for delivery of genetics-related services in day-to-day pediatric primary care practice, encompassing 3 dimensions of medicine: prevention, diagnosis, and management. Participants considered the whole spectrum of disease, from rare disorders to common disorders, the genetics-related components of which are often overlooked. Specific topics included family history, genomics, genetic literacy and competency, epigenetics, and a focused view of primary care and genetics. A consensus statement was developed to provide recommendations for integration of genetics into pediatric primary care.

摘要

一场由卫生资源与服务管理局妇幼保健局主办的儿科初级保健遗传素养座谈会于 2012 年 10 月 2 日至 3 日在美国儿科学会总部举行。座谈会的总体目标是为日常儿科初级保健实践中提供与遗传学相关的服务提供背景,涵盖医学的三个方面:预防、诊断和管理。与会者考虑了从罕见疾病到常见疾病的整个疾病谱,其中许多疾病的遗传学相关部分常常被忽视。具体主题包括家族史、基因组学、遗传素养和能力、表观遗传学,以及初级保健和遗传学的重点观点。制定了一项共识声明,为将遗传学纳入儿科初级保健提供建议。

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