Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, Washington 98195, USA; email:
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA; email:
Annu Rev Genomics Hum Genet. 2021 Aug 31;22:339-355. doi: 10.1146/annurev-genom-110320-121752. Epub 2021 Mar 15.
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.
基于大规模平行测序的基因组测序测试的发展增加了遗传测试的可用性和可及性。遗传咨询领域和实践已经适应了这一具有划时代意义的技术以及随后向基因组医学实践的转变。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生了变化。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,遗传咨询培训计划也在回应在不断扩大的范围内对遗传咨询服务的需求。使具有获取遗传信息机会的患者和参与者群体以及遗传咨询领域多样化的需求是研究和培训计划倡议的前沿。遗传咨询师是基因组时代的重要利益相关者,他们的贡献对于有效和公平地提供精准医学至关重要。