作者: Martha A. Nance
DOI: 10.1002/AJMG.B.32453
关键词: Huntington's disease 、 Disease 、 Patient support 、 Trinucleotide repeat expansion 、 Genetic testing 、 Psychiatry 、 Predictive testing 、 Genetic counseling 、 Genetics 、 Medicine
摘要: This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a education" 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how emergence of Huntington's disease (HD) registries patient support organizations, testing, discovery disease-causing CAG repeat expansion changed contours families with HD. also guidelines, outcomes, ethical laboratory challenges, uptake predictive, prenatal, preimplantation it casts vision clinicians can better make use to reach broader pool that may be affected by HD ensure is associated best levels care. © 2016 Wiley Periodicals, Inc.