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Genetic testing may be helpful in diagnosing glaucoma
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WAILEA, Hawaii — Genetic testing can be useful in detecting glaucoma depending on the age of the patient at diagnosis, a speaker said here.
“Why is family history important? Believe it or not, about 50% of glaucoma cases have family members with glaucoma. Patients with primary affected family members are more likely to have severe disease, to become blind and to benefit from gene testing for mutations in glaucoma genes,” Janey L. Wiggs, MD, PhD, said at the Hawaiian Eye 2015 meeting.
Janey L. Wiggs
Patients and family members of patients who are diagnosed before the age of 50 may benefit from today’s collection of glaucoma genes, she said.
“[Glaucoma genes] are often times inherited autosomal dominant or autosomal recessive traits. In these types of glaucomas, mutations and genes cause disease. It is not a risk factor; it is actually something that is causing the disease,” Wiggs said.
Genes identified in patients over age 50 are risk factors, however, according to Wiggs.
“You can test and tell that someone’s risk is slightly greater than someone else’s, but as of yet, these are not approved for genetic testing. Counseling can be more complicated because they do not cause disease individually − only an aggregate can influence disease susceptibility,” Wiggs said.
Genetic testing can be done on blood samples, mouthwash samples, and cheek swabs.
“We purify the DNA from the tissue. In our lab, we currently use a simultaneous, next-generation sequencing panel and then we analyze the gene’s sequence for mutations,” Wiggs said.
Clinical exam alone cannot distinguish between dominant and recessive disorders, she said. Genetic counseling and risk assessment is very different for a patient with mutations inherited dominantly and a patient with mutations inherited recessively.
Disclosure: Wiggs reports financial interests with NIH/NEI, March of Dimes, Research to Prevent Blindness, Alcon Research Institute, Merck and Roche/Genentech.