Emery Jon, Barlow-Stewart Kristine, Metcalfe Sylvia A, Sullivan David
Discipline of General Practice, University of Western Australia.
Aust Fam Physician. 2007 Oct;36(10):808-11.
Advances in our understanding of the genetics of common chronic disease is beginning to impact on clinical practice and preventive health care.
This article discusses the potential for genetic medicine to inform disease prevention strategies. It describes two examples already affecting clinical general practice: familial hypercholesterolaemia and hereditary haemochromatosis. These represent important inherited conditions that, if diagnosed early, can be simply treated and their complications avoided.
General practitioners can play an important role in the early diagnosis of these conditions and subsequent screening of at risk relatives. These conditions highlight the potential for genetic medicine to be applied to support tailored disease prevention in general practice.
我们对常见慢性病遗传学认识的进展开始影响临床实践和预防保健。
本文讨论基因医学为疾病预防策略提供信息的潜力。它描述了两个已经影响临床全科医疗的例子:家族性高胆固醇血症和遗传性血色素沉着症。这些代表了重要的遗传疾病,如果早期诊断,可得到简单治疗并避免其并发症。
全科医生在这些疾病的早期诊断以及随后对高危亲属的筛查中可发挥重要作用。这些疾病凸显了基因医学应用于支持全科医疗中个性化疾病预防的潜力。