Department of Medicine, University of Arizona, Tucson, 85724, USA.
Am J Med. 2012 Jan;125(1):7-13. doi: 10.1016/j.amjmed.2011.07.034. Epub 2011 Nov 11.
The internist's goal is to determine a patient's disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool, and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients, with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease, and management of adults with genetic diagnoses also are discussed.
内科医生的目标是确定患者的疾病风险，并实施预防干预措施。遗传评估是一种强大的风险评估工具，新的干预措施针对以前无法治疗的遗传疾病。本综述的目的是教育普通内科医生有关影响成年患者的常见遗传疾病，特别强调有有效干预措施的诊断，包括遗传性癌症综合征和心血管疾病。还讨论了遗传咨询的基本原则、复杂的遗传疾病以及对有遗传诊断的成年人的管理。
