Wattendorf Daniel J, Hadley Donald W
Department of Family Medicine, Uniformed Services University of the Health Sciences, F. Edward Hébert School of Medicine, Bethesda, Maryland, USA.
Am Fam Physician. 2005 Aug 1;72(3):441-8.
The collection of a family history ranges from simply asking patients if family members have the same presenting illness to diagramming complex medical and psychosocial relationships as part of a family genogram. The three-generation pedigree provides a pictorial representation of diseases within a family and is the most efficient way to assess hereditary influences on disease. Two recent events have made family history assessment more important than ever: the completion of the Human Genome Project with resultant identification of the inherited causes of many diseases, and the establishment of national clinical practice guidelines based on systematic reviews of preventive interventions. The family history is useful in stratifying a patient's risk for rare single-gene disorders and more common diseases with multiple genetic and environmental contributions. Major organizations have endorsed using standardized symbols in pedigrees to identify inherited contributions to disease.
家族史的收集范围很广,从简单询问患者家庭成员是否患有相同的现患疾病,到绘制复杂的医学和社会心理关系图作为家族系谱图的一部分。三代系谱提供了一个家族内疾病的图示,是评估遗传因素对疾病影响的最有效方法。最近的两件事使家族史评估比以往任何时候都更加重要:人类基因组计划的完成以及由此确定了许多疾病的遗传病因,以及基于对预防性干预措施的系统评价制定的国家临床实践指南。家族史有助于对患者患罕见单基因疾病以及由多种遗传和环境因素导致的更常见疾病的风险进行分层。主要组织已认可在系谱图中使用标准化符号来识别疾病的遗传因素。