Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.
Dermatol Clin. 2010 Apr;28(2):239-43, viii. doi: 10.1016/j.det.2009.12.004.
This article contains the author's views on genetic counseling in cases concerning the epidermolysis bullosa syndromes. The provision of genetic counseling entails absolutes such as diagnosis, natural history, treatment, mode of inheritance, recurrence risks/prenatal diagnosis and referral. The genetic counselor needs to be informed and informative and answer all the needs of the patients and their families reliably both at the initial consultation and subsequently as needed over the course of the patient's life.
本文包含作者对大疱性表皮松解症遗传咨询的观点。遗传咨询需要提供诊断、自然病史、治疗、遗传方式、复发风险/产前诊断和转介等方面的信息。遗传咨询师需要具备丰富的知识和信息，并在初始咨询和患者生命过程中的后续需要时，可靠地回答患者及其家属的所有需求。
