Kopp Peter
Division of Endocrinology, Metabolism, and Molecular Medicine, and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA.
Ther Umsch. 2010 Jul;67(7):367-73. doi: 10.1024/0040-5930/a000065.
Genetic testing has a growing impact on clinical medicine in endocrinology. In many disorders, genetic tests permit establishing a diagnosis at the molecular level. Genetic testing has clinical relevance for early carrier detection that may result in early and targeted interventions, and it is important for genetic counseling. Moreover, a detailed understanding of the molecular pathogenesis of endocrine neoplasms is key for the development of novel, more specific therapies. The practitioner should be familiar with key principles and indications for genetic testing. However, it is of importance to recognize potential limitations of genetic analyses, and to inform patients and their relatives accordingly. This review provides a short overview about genetic analyses in the field of endocrinology that are relevant for the practicing physician.
基因检测对内分泌学的临床医学影响日益增大。在许多疾病中，基因检测有助于在分子水平上做出诊断。基因检测对于早期携带者检测具有临床意义，这可能会带来早期且有针对性的干预措施，并且对遗传咨询很重要。此外，深入了解内分泌肿瘤的分子发病机制是开发新型、更具特异性疗法的关键。从业者应熟悉基因检测的关键原则和适应症。然而，认识到基因分析的潜在局限性并据此告知患者及其亲属很重要。本综述简要概述了内分泌学领域中与执业医师相关的基因分析。
