[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].


Journal

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Titre abrégé: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Pays: China
ID NLM: 9425197

Informations de publication

Date de publication:
10 Mar 2020
Historique:
entrez: 5 3 2020
pubmed: 5 3 2020
medline: 26 3 2020
Statut: ppublish

Résumé

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18, the report will be provided to his/her parents or legal guardians). The content of genetic testing report should conform to relevant guidelines, industry standards and consensus. The decisions of clinicians will be made based on the report and clinical indications. Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members. A mechanism of follow-up visit after the genetic testing should be established with informed consent. Data should be shared by clinical institutions and genome sequencing institutions. As findings upon follow-up visit can help with further evaluation of the results, genome sequencing institutions should regularly re-analyze historical and follow-up data, and the updated results should be shared with clinical institutions. All activities involving reporting, genetic counselling, follow-up visiting, and re-analyzing should follow the relevant guidelines and regulations.

Identifiants

pubmed: 32128757
pii: 940637068
doi: 10.3760/cma.j.issn.1003-9406.2020.03.022
doi:

Types de publication

Journal Article

Langues

chi

Sous-ensembles de citation

IM

Pagination

352-357

Auteurs

Hui Huang (H)

The First Affiliated Hospital, SRRS Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Zhejiang DIAN Diagnostics Co., Ltd., Hangzhou, Zhejiang 310013, China; University of Rochester Medical Center, New York, NY 14642, USA. mingqi@zju.edu.cn.

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Classifications MeSH