遗传学与初级保健：提高认识与加强合作。
Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.
机构信息
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.
出版信息
Mo Med. 2024 Jul-Aug;121(4):277-283.
Abstract
The rapid evolution of the field of genetics in the past several years has opened new opportunities for diagnosis of treatment of genetic disorders. However, the limited availability of medical geneticists has led to difficulty in meeting this evolving need. Integrating awareness of genetic disorders and genetic screening into primary care may facilitate early diagnosis, while strategic support and cooperative care between primary care physicians and geneticists can improve long term management.
摘要
近年来，遗传学领域的快速发展为遗传疾病的诊断和治疗开辟了新的机会。然而，医学遗传学家的数量有限，导致难以满足这一不断发展的需求。将遗传疾病意识和基因筛查纳入初级保健中，可以促进早期诊断，而初级保健医生和遗传学家之间的战略支持和合作护理可以改善长期管理。
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本文引用的文献
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2
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Mo Med. 2022 Jul-Aug;119(4):329-332.
3
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Ann Intern Med. 2022 Sep;175(9):1322-1323. doi: 10.7326/M22-0743. Epub 2022 Jul 26.
4
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5
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Pediatrics. 2022 May 1;149(5). doi: 10.1542/peds.2022-057010.
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Heart. 2021 Dec;107(24):1956-1961. doi: 10.1136/heartjnl-2021-319742. Epub 2021 Sep 14.
7
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).外显子组和基因组测序用于患有先天畸形或智力障碍的儿科患者：美国医学遗传学与基因组学学会（ACMG）的循证临床指南。
Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.
8
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BMC Health Serv Res. 2021 Jun 2;21(1):542. doi: 10.1186/s12913-021-06489-y.
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