Diagnostic genome sequencing improves diagnostic accuracy: a prospective study in a single centre in 1000 patients with hereditary eye diseases.

The University Eye Hospital and the Institute for Ophthalmic Research have a long record in identifying the genetic causes of Inherited Retinal Dystrophies and Optic Neuropathies and providing clinical and genetic diagnosis to patients affected by the various forms of these disorders. In 2019, we partnered with the Institute for Medical Genetics and Applied Genomics to implement whole genome sequencing in the genetic work-up of these blinding conditions. Inherited Retinal Dystrophies or Neuroophthalmology patients receive advanced ophthalmologic examination and clinical diagnosis and diagnostic testing upon informed consent.

Recently, we published an important manuscript summarizing the results of genetic testing of the first 1000 patients via genome sequencing in the Journal of Medical Genetics. The Tübingen interdisciplinary concept showcases the clinical utility and added diagnostic value of comprehensive genome analyses, and presents the largest genome-sequenced cohort of inherited retinal dystrophies and optic neuropathy to date. It highlights that genome sequencing is feasible in clinical practice and reliably identifies causal variants in a substantial proportion of individuals. The diagnostic yield is extended to rare non-coding variants and enables precise determination of structural variants.

Here the link to the original publication: Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.