Resta Robert G
Hereditary Cancer Clinic, Swedish Medical Center, 1221 Madison St. #500, Seattle, WA, 98104, USA.
Eur J Med Genet. 2019 May;62(5):300-307. doi: 10.1016/j.ejmg.2018.11.003. Epub 2018 Nov 7.
Genetic counseling as a formal clinical service was defined in 1947, though the first study of its effectiveness was not published until 1966. This history can be broadly divided in to 3 periods: 1) 1947-1980, when the focus was primarily on prevention of disability, 2) 1981-1995, when the rationales for counseling began to shift and the first studies on the psychosocial effects of genetic counseling started to appear, albeit still largely focused on reproduction, and 3) 1996 - Present, when genetic counselors increased their presence in oncology, cardiology, and other non-reproductive areas of genetic counseling. Changes in outcome measures of genetic counseling have been intertwined with technological advances in genetic testing, better and more sophisticated outcome measures, the growing professional independence and clinical positions of genetic counselors, and the influence of social scientists particularly from behavioral psychology. Despite advances, assessment of the effectiveness of genetic counseling continues is complicated by a lack of widespread agreement about the most appropriate outcome measures as well as research design problems. Broadly speaking though, genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients.
遗传咨询作为一项正式的临床服务于1947年被定义,不过其有效性的首次研究直到1966年才发表。这段历史大致可分为三个时期:1)1947年至1980年,当时主要关注残疾预防;2)1981年至1995年,咨询的理论依据开始转变,关于遗传咨询心理社会影响的首批研究开始出现,尽管仍主要集中在生殖方面;3)1996年至今,遗传咨询师在肿瘤学、心脏病学及其他非生殖领域的遗传咨询中越来越活跃。遗传咨询结果测量的变化与基因检测技术进步、更好更复杂的结果测量、遗传咨询师日益增强的专业独立性和临床地位以及尤其是行为心理学领域社会科学家的影响交织在一起。尽管取得了进展,但由于对最合适的结果测量缺乏广泛共识以及研究设计问题,遗传咨询有效性的评估仍然很复杂。不过总体而言,遗传咨询往往能提高信息记忆、改善心理健康,并且普遍受到患者好评。