A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1)-Procedures prior to genetic testing
- VernacularTitle:遗传病二代测序临床检测全流程规范化共识探讨(1)——遗传检测前流程
- Author:
Jian WANG
1
;
Weihong GU
;
Hui HUANG
;
Yiping SHEN
;
Hui XIONG
;
Yi HUANG
;
Ming QI
;
Dongyan AN
;
Duan MA
;
Xuxu DENG
;
Yong GAO
;
Xiaodong WANG
;
Zaiwei ZHOU
;
Jian WU
;
Xiong XU
;
Wei ZHANG
;
Hui KANG
;
Zhiyu PENG
;
Shihui YU
;
Liang WANG
;
Shangzhi HUANG
Author Information
- Keywords: Next generation sequencing; Phenotype ontology; Genotype; Pre-testing genetic counselling; Informed consent
- From: Chinese Journal of Medical Genetics 2020;37(3):334-338
- CountryChina
- Language:Chinese
- Abstract: Pre-testing preparation is the basis and starting point of genetic testing.The process includes collection of clinical information,formulation of testing scheme,genetic counseling before testing,and completion of informed consent and testing authorization.To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS),thereby reducing medical cost and improving clinical efficacy.The analysis of NGS results relies,to a large extent,on the understanding of genotype-phenotype correlations,therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms.Different types of genetic diseases or mutations may require specific testing techniques,which can yield twice the result with half the effort.Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing,formulate individualized testing strategies,and lay a foundation for follow-up.
