将多因素疾病的遗传风险评估纳入初级保健

A. Metcalfe, Sue Wilson, D. McCahon, H. V. Sleightholme, P. Gill, T. Cole
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引用次数: 5

摘要

许多常见的多因素疾病的遗传基础正日益得到了解,但对所创造知识的使用却给初级保健带来了重大难题。确定可能在遗传上易患严重疾病的个人,就有机会提供筛查或预防性治疗,以便在许多复杂情况下及早发现或预防和延迟发病。我们描述了一项新的试点服务发展,将遗传风险评估引入初级保健,并讨论了其评估的结果。该评价突出了在初级保健中纳入遗传风险评估的问题。评估的结果以及其他研究的发现,并与遗传学发展的影响并列,表明需要做出改变,以适应将遗传风险评估纳入初级保健临床实践。我们讨论了这些变化是什么,好处和缺点,以及初级保健是否能够并且准备好做出必要的改变,进一步将重点从疾病治疗转移到疾病预防。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Integrating genetic risk assessment for multi-factorial conditions into primary care
The genetic basis of many common, multi-factorial conditions is increasingly being understood but use of the knowledge created, raises major dilemmas for primary care. Identification of individuals that may be genetically predisposed to serious medical conditions provides the opportunity to offer screening or prophylactic treatment, for early detection or prevention and delay in disease onset in many complex conditions. We describe a new pilot service development to introduce genetic risk assessment for a wide range of conditions to primary care, and discuss the findings from its evaluation. The evaluation highlighted the issues about the incorporation of genetic risk assessment in primary care. The results of the evaluation along with findings from other studies, juxtaposed with the implications of developments in genetics suggest that changes are required to accommodate the integration of genetic risk assessment into primary care clinical practice. We discuss what these changes are, the benefits and drawbacks, and whether primary care can and is ready to make the changes required, further shifting the focus from disease treatment to disease prevention.
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