Department of Medical Genetics and Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver V6H 3N1, Canada; email:
Annu Rev Genomics Hum Genet. 2017 Aug 31;18:1-29. doi: 10.1146/annurev-genom-091416-035213. Epub 2017 Mar 6.
Clinical genetics is the application of advances in genetics and medicine to real human families. It involves diagnosis, care, and counseling concerning options available to affected individuals and their family members. Advances in medicine and genetics have led to dramatic changes in the scope and responsibilities of clinical genetics. This reflection on the last 50+ years of clinical genetics comes from personal experience, with an emphasis on the important contributions that clinical geneticists have made to the understanding of disease/disorder processes and mechanisms. The genetics clinic is a research laboratory where major advances in knowledge can and have been made.
临床遗传学是将遗传学和医学的进展应用于真实的人类家庭。它涉及对受影响个体及其家庭成员可选择的诊断、护理和咨询。医学和遗传学的进步导致临床遗传学的范围和职责发生了巨大变化。对过去 50 多年临床遗传学的反思来自个人经验，强调了临床遗传学家对疾病/障碍过程和机制的理解做出的重要贡献。遗传诊所是一个研究实验室，可以并且已经取得了重大的知识进步。
