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Genetic Testing for Inherited Retinal Disease

      The report by Stone et al
      • Stone E.M.
      • Andorf J.L.
      • Whitmore S.S.
      • et al.
      Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease.
      in this issue (see page 1314) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD). The new approach to testing involves the use of next-generation sequencing (NGS), a term used to describe a number of different technologies that use a common strategy of the parallel sequencing of millions of short segments of DNA that are then aligned bioinformatically with a human reference genome.
      • Behjati S.
      • Tarpey P.S.
      What is next generation sequencing?.
      Each fragment is sequenced multiple times, allowing improved sequencing accuracy. Next-generation sequencing can be used to completely sequence an individual's DNA (whole genome sequencing), sequence the protein coding regions (exome sequencing), or confine the sequencing to the coding regions of panels of genes known to cause specific disorders such as IRDs. The technology has advanced to the stage that whole exome sequencing and whole genome sequencing can be performed in a short time frame and the cost of such testing continue to decrease. Next-generation sequencing testing of panels of all known retinal disease genes is already in clinical use.
      • Chiang J.P.
      • Trzupek K.
      The current status of molecular diagnosis of inherited retinal dystrophies.
      • Ellingford J.M.
      • Barton S.
      • Bhaskar S.
      • et al.
      Molecular findings from 537 individuals with inherited retinal disease.
      Whole genome sequencing further increases the diagnostic yield
      • Ellingford J.M.
      • Barton S.
      • Bhaskar S.
      • et al.
      Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease.
      and, as the cost of whole genome sequencing continues to decrease, such testing is likely to be moved to the clinic and affect clinical practice, particularly in the field of single gene disorders.
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      References

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        • et al.
        Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease.
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        What is next generation sequencing?.
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        Molecular findings from 537 individuals with inherited retinal disease.
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        Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease.
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