Next-Generation Sequencing of Targeted Capture Genes a Sensitive Method for Diagnosis of Inherited Eye Disorders

A recent study showed that a targeted enrichment and next-generation sequencing method for genetic diagnostic testing of patients with inherited eye disorders was more accurate and sensitive than an approach based on exome sequencing, which focuses on the DNA in the 1% of the human genome that code for proteins.

Investigators at the Harvard Medical School (Boston, MA, USA) recently evaluated the Genetic Eye Disease (GEDi) test, a targeted enrichment and next-generation sequencing method that they had developed for genetic diagnostic testing of patients with inherited eye disorders, including inherited retinal degenerations, optic atrophy, and glaucoma. The GEDi test relies on targeted capture of all the genes known to be linked to inherited eye diseases and next generation sequencing techniques to sequence these 226 genes.

Results showed that the GEDi test was highly reproducible and accurate, with sensitivity and specificity of 97.9% and 100%, respectively, for single-nucleotide variant detection. The sensitivity for variant detection was notably better than the 88.3% achieved by whole-exome sequencing using the same metrics, because of better coverage of targeted genes in the GEDi test as compared with a commercially available exome capture set.

“The results we obtained for the GEDi test have broad implications and show that panel-based testing focused on the specific genes associated with genetic conditions offers important advantages over whole exome sequencing,” said contribution author Dr. Janey Wiggs, associate professor of ophthalmology at Harvard Medical School.

The study was published in the November 20, 2014, online edition of the journal Genetics in Medicine.

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