Genetic testing for inherited ocular disease: delivering on the promise at last?

Authors

  • Rachel L Gillespie MSc,

    1. Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK
    2. Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK
    Search for more papers by this author
  • Georgina Hall MSc,

    1. Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK
    2. Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK
    Search for more papers by this author
  • Graeme C Black FRCOPhth Dphil

    Corresponding author
    1. Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK
    2. Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK
    • Correspondence: Professor Graeme Black, Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary's Hospital, Manchester M13 9WL, UK. Email: graeme.black@manchester.ac.uk

    Search for more papers by this author

  • Competing/conflicts of interest: No stated conflict of interest.
  • Funding sources: Fight for Sight; Manchester Biomedical Research Centre.

Abstract

Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future will direct gene-specific therapeutic strategies. Often, precise diagnosis of genetic ophthalmic conditions is complicated by genetic heterogeneity, a difficulty that the so-called ‘next-generation sequencing’ technologies promise to overcome. Despite considerable counselling and ethical complexities, next-generation sequencing offers to revolutionize clinical practice. This will necessitate considerable adjustment to standard practice but has the power to deliver a personalized approach to genomic medicine for many more patients and enhance the potential for preventing vision loss.

Ancillary