A novel test aids in the early diagnosis of eye disease, enabling more timely treatment and informed patient management
FREMONT, CA: Avellino Lab USA, Inc. (Avellino) declares the nationwide availability of AvaGen, the first Genetic Eye Test in the United States that assists in determining a patient's risk of developing keratoconus and the presence of other corneal dystrophies. The test enables more confident management and treatment of patients suffering from these conditions, thereby protecting and preserving their vision.
The test intends to identify keratoconus patients who may benefit from FDA-approved cross-linking treatment, which has been shown to slow disease progression and preserve vision. The AvaGen results may also influence an eye care professional's decision regarding a patient's refractive surgery options. The AvaGen genetic test analyzes 75 keratoconus-related genes and over 2,000 variants of those genes to generate an actionable keratoconus genetic risk score. Due to the higher prevalence of this eye condition in certain ethnic groups, the AvaGen test incorporates this information into its results. AvaGen identifies the presence of any of the 70 TGFBI gene variants and provides a conclusive diagnosis of corneal dystrophies subtypes such as Epithelial Basement Membrane, Granular, and Lattice diseases, as well as Reis-Bucklers, Schnyder, and Theill-Behnke.
“Assessing keratoconus is multi-factorial. Until now, genetic data has been missing from the equation. I order AvaGen when I have any red flag concerns in my refractive surgical evaluations, such as high astigmatism or steep corneal curvature, against-the-rule or irregular astigmatism in younger patients, a thin cornea, or in family members of a known keratoconus patient. AvaGen helps me know earlier about a patient’s genetic predisposition and allows me to make confident treatment and management decisions,” says Elizabeth Yeu, MD, of Virginia Eye Consultants, an advisor to Avellino.
Avellino Chief Scientific Officer Nazneen Aziz, Ph.D., states, “We are pleased to make an impact on patients’ lives by uncovering the genetic risk of sight-threatening diseases and enabling doctors to deliver a higher level of personalized, targeted eye care. AvaGen empowers eye care professionals with genetic data for everyday use in their medical practice so they can detect earlier the risk of developing keratoconus versus other, more traditional methods and take actionable decisions on the best course of treatment to protect and preserve vision.”
Avellino CEO and President Jim Mazzo notes, “It is exciting to be part of transforming eye care with the national introduction of the first comprehensive genetic test for patients with these challenging conditions. I congratulate our Avellino team on accomplishing this important commercial milestone for the company, and for taking a giant step on our path to developing a host of genomic tests for personalized disease management.”
“While we made AvaGen available in late 2019, we quickly pivoted our resources to do our part to address the COVID-19 pandemic over the last year with the development of our widely-used SARS-CoV-2/COVID-19 test, which received Emergency Use Authorization (EUA) from the FDA. Thanks to widespread testing and adoption of the COVID-19 vaccines, we are now able to offer AvaGen nationally.” he adds further.