Keratoconus is a progressive vision disorder affecting approximately 885,000 Americans2 (1 in 375) that is often underdiagnosed or misdiagnosed in its earlier stages, when it can be better managed and treated to protect and preserve vision. Today’s corneal diagnostic imaging tools often do not diagnose the disease early or misdiagnose keratoconus as astigmatism or myopia, and most optometrists do not have access to these imaging tools. Because of this, patients are typically managed with a “wait-and-see approach,” which often results in a diagnosis only after vision has been impacted.
Corneal dystrophies are a rarer group of genetic diseases, which can cause not only vision loss but also pain and discomfort for the nearly 280,000 patients in the US3 with some type of corneal dystrophy. Other diagnostic tools are often unable to provide a definitive diagnosis of the disease.
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.”
He continues, “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.”
AvaGen™ is designed to be easy to use, requiring only a simple cheek swab that is sent to Avellino’s high complexity CLIA-certified lab for analysis. An eye care professional receives results in days in an intuitive and actionable report via a HIPAA-secured patient portal. Genetic counsel is provided alongside test results to ensure eye care professionals and their patients clearly understand the results and their implications for patient management.
Source: https://www.avellino.com/en/about/news/