Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18.


Purpose: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Methods: Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing.

Results: The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism).

Conclusion: Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

Keywords: albinism; clinical utility; congenital cataract; inherited eye disease; inherited retinal disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract* / diagnosis
  • Cataract* / genetics
  • Child, Preschool
  • Eye
  • Eye Abnormalities* / genetics
  • Genetic Testing*
  • Humans
  • Infant
  • Infant, Newborn
  • Retinal Diseases* / diagnosis
  • Retinal Diseases* / genetics