基因组学时代的遗传咨询规模。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-15 DOI:10.1146/annurev-genom-110320-121752
Laura M Amendola, Katie Golden-Grant, Sarah Scollon
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引用次数: 9

摘要

基于大规模平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及性。遗传咨询的领域和实践已经适应了这种范式转换技术和随后的过渡到实践基因组医学。虽然定义遗传咨询的关键要素仍然相关,但遗传咨询服务的提供模式和实践环境已经发生了变化。遗传咨询师正在解决直接面向消费者和消费者驱动的基因测试的挑战,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,以获得遗传信息,以及遗传咨询领域,是研究和培训计划倡议的前沿。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。
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Scaling Genetic Counseling in the Genomics Era.

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.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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