A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4)-Report interpretation and genetic counseling
10.3760/cma.j.issn.1003-9406.2020.03.022
- VernacularTitle:遗传病二代测序临床检测全流程规范化共识探讨(4)——检测报告解读和遗传咨询
- Author:
Hui HUANG
1
;
Yiping SHEN
;
Weihong GU
;
Yi HUANG
;
Xiaodong WANG
;
Yong GAO
;
Hui XIONG
;
Zaiwei ZHOU
;
Jing WU
;
Duan MA
;
Dongyan AN
;
Wei ZHANG
;
Qinmei FU
;
Xi XIONG
;
Zhiyu PENG
;
Liang WANG
;
Shangzhi HUANG
;
Ming QI
Author Information
1. 深圳华大基因股份有限公司
- Keywords:
Clinical genetic testing;
Genetic testing report;
Genetic counselling;
Follow-up visit;
Rule and regulation for clinical genetic testing
- From:
Chinese Journal of Medical Genetics
2020;37(3):352-357
- CountryChina
- Language:Chinese
-
Abstract:
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.
