Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease
10.3760/cma.j.cn511434-20211027-00608
- VernacularTitle:了解基因检测技术在眼遗传病精准诊疗中的应用
- Author:
Ruifang SUI
1
;
Fengxia YAO
Author Information
1. 疑难重症及罕见病国家重点实验室 北京协和医院 中国医学科学院北京协和医学院 100730
- Keywords:
Genetic testing;
Eye diseases, hereditary;
Molecular diagnostic techniques;
Editorial
- From:
Chinese Journal of Ocular Fundus Diseases
2021;37(11):831-835
- CountryChina
- Language:Chinese
-
Abstract:
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known diseasecausing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
