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家庭健康史现代化:减少实施差距的可行策略

Modernizing family health history: achievable strategies to reduce implementation gaps.

作者信息

Wildin Robert S, Messersmith Donna J, Houwink Elisa J F

机构信息

Department of Pathology & Laboratory Medicine (Genomic Medicine), University of Vermont Larner College of Medicine, VT, Burlington, USA.

Department of Pediatrics (Genetics), University of Vermont Larner College of Medicine, VT, Burlington, USA.

出版信息

J Community Genet. 2021 Jul;12(3):493-496. doi: 10.1007/s12687-021-00531-6. Epub 2021 May 24.

Abstract

Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts.

摘要

家族健康史(FHH)是一种有价值但未得到充分利用的医疗保健工具,可用于评估糖尿病、癌症和心血管疾病等常见疾病以及罕见单基因疾病的健康风险。在医疗保健中全面实施FHH的收集和分析,既可以改善个体的一级和二级疾病预防,又可以通过级联检测,使有风险的家庭成员有资格进行症状前检测和预防性干预。除了在临床中进行风险评估外,FHH对于解释临床基因检测结果以及将健康风险与基因组变异联系起来的研究也越来越重要。尽管有这些价值,但临床环境中的各种实施差距削弱了其潜在的临床价值,并限制了相关健康和基因组数据的质量。美国国家人类基因组研究所(NHGRI)家族健康史小组是一个成员开放、总部位于美国且有国际成员的组织,该小组认为,将FHH整合到医疗保健和研究中比以往任何时候都更加重要,迫切需要包括教育在内的可实现的实施进展,以加快基因组医学的转化应用步伐。本文介绍了一份实施差距清单以及为解决这些差距而提出的可实现策略,这些策略代表了2019年至2020年会议上达成的共识。所提出的措施多种多样、跨学科,并以经验以及正在进行的实施和研究工作为指导。

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