当前位置: X-MOL 学术Annu. Rev. Genomics Hum. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Scaling Genetic Counseling in the Genomics Era.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2021-03-15 , 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. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

中文翻译:

在基因组学时代扩展遗传咨询。

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以及随后向实践基因组医学的过渡。尽管定义遗传咨询的关键要素仍然很重要,但是遗传咨询服务的提供模式和实践环境已经发生了演变。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,而遗传咨询培训计划正在应对范围广泛的背景下对遗传咨询服务的不断增长的需求。需要使患者和参与者群体在获得遗传信息以及遗传咨询领域方面多样化,处于研究和培训计划倡议的最前沿。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,公平地提供精准医学至关重要。《基因组学和人类遗传学年鉴》第22卷的最终最终预期发布日期是2021年8月。有关修订的估算,请参见http://www.annualreviews.org/page/journal/pubdates。
更新日期:2021-03-15
down
wechat
bug