Avellino Launches AvaGen as First Genetic Test to Quantify Keratoconus Risk and Presence of Corneal Dystrophies
Avellino Lab USA announced full nationwide availability in the US of AvaGen, as the first genetic test that helps determine a patient’s risk of keratoconus and the presence of other corneal dystrophies. The test allows for more confident management and treatment for patients with these conditions in order to protect and preserve patient vision, according to a company news release.
The test is designed to provide keratoconus patients with an earlier benefit from FDA-approved cross-linking treatment, which can halt disease progression and preserve vision. The AvaGen results can also influence an eye care professional’s choice of refractive surgery options for patients.
The AvaGen genetic test examines 75 keratoconus-related genes and more than 2,000 variants of those genes to develop an actionable keratoconus genetic risk score. As certain ethnicities have a higher prevalence of this eye condition,1 the AvaGen test also factors this information into its results. For corneal dystrophies, AvaGen determines the presence of any of the 70 TGFBI gene variants and provides a conclusive diagnosis of corneal dystrophy sub-types, such as Epithelial Basement Membrane, Granular and Lattice disease distinctions, Reis-Bucklers, Schnyder and Theill-Behnke.
“Assessing keratoconus is multi-factorial. Until now, genetic data has been missing from the equation,” Elizabeth Yeu, MD, of Virginia Eye Consultants, an advisor to Avellino, said in the news release. “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.”
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.
“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,” Avellino CEO and President Jim Mazzo said in the news release. “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.”
References
1. Hassan MD, Heydarian, Samira PhD, Hooshmand, Elham MSc, Saatchi, Mohammad PhD, Yekta, Abbasali PhD, … Khabazkhoob, Mehdi PhD. (Feb. 2000). The Prevalence and Risk Factors for Keratoconus: A Systematic Review and Meta-Analysis. Cornea, The Journal of Cornea and External Disease. Retrieved from https://journals.lww.com/corneajrnl/Abstract/2020/02000/The_Prevalence_and_Risk_Factors_for_Keratoconus__A.24.aspx.
2. Godefrooij DA, De Wit GA, Uiterwaal CS, Imhof SM, Wisse RPL. Age-specific incidence and prevalence of keratoconus: a nationwide registration study. American Journal of Ophthalmology. 2017;175:169-172.
3. David C. Musch, Leslie M. Niziol, Joshua D. Stein, Roheena M. Kamyar, Alan Sugar. Prevalence of Corneal Dystrophies in the United States: Estimates from Claims Data. (Aug. 2011). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175990/pdf/z7g6959.pdf.