Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease_Chinese Journal of Ocular Fundus Diseases

Authors：

 Sui Ruifang ^1,2 , Yao Fengxia ^2,3

1. State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China;
2. Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China;
3. Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China;

Corresponding author：

Sui Ruifang, Email: hrfsui@163.com

Keywords：

Genetic testing; Eye diseases, hereditary; Molecular diagnostic techniques; Editorial

DOI：

10.3760/cma.j.cn511434-20211027-00608

Video：

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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 disease-causing 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.

Citation： Sui Ruifang, Yao Fengxia. Understanding the application of genetic testing in practicing precision medicine for inherited ocular disease. Chinese Journal of Ocular Fundus Diseases, 2021, 37(11): 831-835. doi: 10.3760/cma.j.cn511434-20211027-00608 Copy

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1. 中国眼遗传病诊疗小组, 中国眼科遗传联盟. 眼遗传病基因诊断方法专家共识[J]. 中华实验眼科杂志, 2018, 36(7): 481-488. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.001.China Eye Genetic Disease Diagnosis and Treatment Team, China Eye Genetics Alliance. Expert consensus on genetic diagnosis methods for eye genetic diseases[J]. Chin J Exp Ophthalmol, 2018, 36(7): 481-488. DOI: 10.3760/cma.j.issn.2095-0160.2018.07.001.
2. 睢瑞芳. 正确解读遗传性视神经病变基因检测结果[J]. 中华眼科杂志, 2021, 57(5): 326-330. DOI: 10.3760/cma.j.cn112142-20200521-00342.Sui RF. Correctly interpret the genetic testing results of inherited optic neuropathy[J]. Chin J Ophthalmol, 2021, 57(5): 326-330. DOI: 10.3760/cma.j.cn112142-20200521-00342.
3. Levy SE, Myers RM. Advancements in next-generation sequencing[J]. Annu Rev Genomics Hum Genet, 2016, 17: 95-115. DOI: 10.1146/annurev-genom-083115-022413.
4. Numa S, Oishi A, Higasa K, et al. EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening[J/OL]. Sci Rep, 2020, 10(1): 20770[2020-11-27]. https://pubmed.ncbi.nlm.nih.gov/33247286/. DOI: 10.1038/s41598-020-77558-1.
5. Zhu T, Chen DF, Wang L, et al. USH2A variants in Chinese patients with Usher syndrome type Ⅱ and non-syndromic retinitis pigmentosa[J]. Br J Ophthalmol, 2021, 105(5): 694-703. DOI: 10.1136/bjophthalmol-2019-315786.
6. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing[J]. Proc Natl Acad Sci USA, 2009, 106(45): 19096-19101. DOI: 10.1073/pnas.0910672106.
7. 赵辰, 谢小雷, 冀维真, 等. 美国二代测序技术临床应用的共识声明、实践资源、技术标准和指南的概述[J]. 中华医学遗传学杂志, 2021, 38(6): 513-520. DOI: 10.3760/cma.j.cn511374-20200924-00691.Zhao C, Xie XL, Ji WZ, et al. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States[J]. Chin J Med Genet, 2021, 38(6): 513-520. DOI: 10.3760/cma.j.cn511374-20200924-00691.
8. Linoel AC, Costain G, Monfared N, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test[J]. Genet Med, 2018, 20(4): 435-443. DOI: 10.1038/gim.2017.119.
9. Lelieveld SH, Spielmann M, Mundlos S, et al. Comparison of exome and genome sequencing technologies for the complete capture of protein-coding regions[J]. Hum Mutat, 2015, 36(8): 815-822. DOI: 10.1002/humu.22813.
10. Zeitz C, Michiels C, Neuille M, et al. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders[J]. Hum Mutat, 2019, 40(6): 765-787. DOI: 10.1002/humu.23735.
11. Wu S, Yuan Z, Sun Z, et al. A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy[J/OL]. Graefe's Arch Clin Exp Ophthalmol, 2021 2021:E1[2021-08-24]. https://link.springer.com/article/10.1007%2Fs00417-021-05376-w. DOI: 10.1007/s00417-021-05376-w. [published online ahead of print].
12. Zou X, Yao FX, Li FR, et al. Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7[J]. Mol Vis, 2021, 27: 221-232.
13. Sun Z, Yang L, Li H, et al. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort[J/OL]. Exp Eye Res, 2021, 202: 108389[2020-12-07]. https://pubmed.ncbi.nlm.nih.gov/33301772/. DOI: 10.1016/j.exer.2020.108389.
14. Norman CS, O'Gorman L, Gibson J, et al. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)[J/OL]. Sci Rep, 2017, 7(1): 4415[2017-06-30]. https://pubmed.ncbi.nlm.nih.gov/28667292/. DOI: 10.1038/s41598-017-04401-5.
15. Grønskov K, Jespersgaard C, Bruun GH, et al. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1[J]. Sci Rep, 2019, 9(1): 645. DOI: 10.1038/s41598-018-37272-5.
16. Yauy K, Leeuw ND, Yntema HG, et al. Accurate detection of clinically relevant uniparental disomy from exome sequencing data[J]. Genet Med, 2020, 22(4): 803-808. DOI: 10.1038/s41436-019-0704-x.
17. Prado DA, Acosta-Acero M, Maldonado RS. Gene therapy beyond luxturna: a new horizon of the treatment for inherited retinal disease[J]. Curr Opin Ophthalmol, 2020, 31(3): 147-154. DOI: 10.1097/ICU.0000000000000660.

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