Avellino launches genetic test for keratoconus
DENVER – Avellino Labs announced the U.S. launch of AvaGen, the Genetic Eye Test, designed to help determine a patient’s risk of keratoconus and other corneal dystrophies.
AvaGen was initially launched in Q4 of 2019, Avellino global head of sales and marketing, Joe Boyd, told Healio here at Optometry’s Meeting. Then they developed a test for COVID, “and we did 2 million COVID tests,” he said.
The company expanded its infrastructure with this demand, and then re-launched AvaGen in early June 2021.
With the use of the AvaGen genetic test, a patient who has family members with keratoconus can be identified earlier and begin treatment soon – with corneal cross-linking, for example – to stabilize and preserve vision, Boyd said.
It can also be used to evaluate patients for the presence of corneal dystrophy before they are scheduled for refractive surgery.
A cheek swab from the patient is sent to Avellino’s CLIA lab for evaluation, Boyd said. The practice need not have a CLIA waiver. Avellino provides genetic counselors for doctors to help interpret the tests and for patients, he said.
The test considers 75 keratoconus-related genes, more than 2,000 gene variants and ethnicity when determining an actionable keratoconus genetic risk score, according to a company press release. AvaGen also examines the 70 transforming growth factor beta-induced gene variants to provide a conclusive diagnosis of any corneal dystrophy subtypes.
Boyd noted that the test is not yet covered by insurance.