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Scaling Genetic Counseling in the Genomics Era
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2021-08-31 , DOI: 10.1146/annurev-genom-110320-121752
Laura M Amendola 1 , Katie Golden-Grant 1 , Sarah Scollon 2
Affiliation  

The development of massively parallel sequencing–based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine.

中文翻译:


扩大基因组学时代的遗传咨询

基于大规模并行测序的基因组测序测试的发展增加了基因测试的可用性和可访问性。遗传咨询的领域和实践已经适应了这种范式转换技术以及随后向实践基因组医学的转变。虽然定义遗传咨询的关键要素仍然相关,但遗传咨询服务提供模式和实践环境已经发展。遗传咨询师正在应对直接面向消费者和消费者驱动的基因检测的挑战,并且遗传咨询培训计划正在响应在更广泛的背景下对遗传咨询服务不断增长的需求。需要使患者和参与者群体多样化,以获取遗传信息,以及遗传咨询领域,处于研究和培训计划计划的最前沿。遗传咨询师是基因组学时代的关键利益相关者,他们的贡献对于有效和公平地提供精准医疗至关重要。

更新日期:2021-09-01
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