Genetic testing for inherited retinal degenerations: Triumphs and tribulations.
genetic counseling
genetic testing
retinitis pigmentosa
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
25
06
2020
revised:
31
07
2020
accepted:
05
08
2020
pubmed:
1
9
2020
medline:
3
6
2021
entrez:
1
9
2020
Statut:
ppublish
Résumé
Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years-more than 270 different genes involved in syndromic and nonsyndromic forms of retinal dystrophies have now been identified. The identification of these genes and the improvement of clinical laboratory techniques have led to the identification of the genetic basis of disease in 56-76% of patients with IRDs through next generation sequencing and copy number variant analysis. Genetic testing is an essential part of clinical care for patients affected with IRDs and is required to confirm the diagnosis, understand the inheritance of the condition, and determine eligibility for gene-specific treatments or clinical trials. Despite the success achieved in determining the genetic cause of these conditions, several challenges remain, which must be considered when providing genetic testing and genetic counseling to patients. For this reason, an integrated team of ophthalmic and genetic clinicians who are familiar with these challenges is necessary to provide optimal comprehensive care to these patients.
Identifiants
pubmed: 32865341
doi: 10.1002/ajmg.c.31835
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
571-577Informations de copyright
© 2020 Wiley Periodicals LLC.
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