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September 8, 2018

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Understanding genetic testing for hereditary disease

(originally published for Optometry Times)


Diagnosis at the molecular level is quickly becoming standard of care. The national initiative in precision medicine will rely heavily on genetic diagnoses by taking into account “individual differences in people’s genes.”


Gene therapy and genetic-based trials are increasing rapidly in success and number and are expanding in scope and concept. Gene therapy with Luxturna (Spark Therapeutics) for Leber congenital amaurosis received FDA approval December 19, 2017, and the first patient was treated on March 20, 2018.3 Eligibility for treatment includes biallelic mutations in the RPE65 gene confirmed by genetic testing. 


It is incumbent on the practitioner to recognize potentially hereditary eye disease and discuss referral for genetic testing. Realize that not every patient will want genetic testing.


Two concerns with genetic testing are protecting privacy and—related to that—avoiding possible discrimination by employers. Title II of the Genetic Information Nondiscrimination Act of 2008 (GINA) became effective in 2009 and prohibits employment discrimination based on genetic information. This fact might reassure some patients, but others will have different concerns; they should know that genetic testing can be performed later if they change their minds. Consultation with a genetic counselor or medical or clinical geneticist might help them with this decision without committing them to testing.


read the full article here

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