TORONTO, Nov. 15, 2012 /PRNewswire/ -- In response to the November 11, 2012 press release issued by the American Academy of Ophthalmology (AAO) Task Force on Genetic Testing, ArcticDx Inc. (Arctic) maintains that Macula Risk®, its laboratory developed test (LDT) for AMD, is of the highest standard and proven to add to the accuracy of clinical assessment alone in its intended use of risk stratification for AMD patients. While in general agreement with the Task Force's Recommendations for Genetic Testing, re-published in the November issue of Ophthalmology(1), Arctic holds that the accompanying statement ("current genetic tests for AMD are flawed") is invalid and potentially detrimental to patients with advancing disease who could benefit from increased surveillance leading to earlier treatment.
Arctic reaffirms its support for the Recommendations, which discourage against routine genetic testing and direct-to-consumer marketing of genetic tests for complex eye disorders such as age-related macular degeneration (AMD) and late-onset primary open angle glaucoma. Macula Risk is only available through a qualified eye care practitioner, and is recommended for selective use in combination with clinical findings from a comprehensive eye exam to evaluate a patient's risk of progression from early and intermediate AMD to advanced AMD with vision loss.
Arctic maintains that surveillance strategies are of benefit to individuals at high-risk for AMD progression, and nothing has been proven to be more accurate in predicting risk of AMD progression than the combination of genetics with the clinical assessment of an AMD patient(2,3). A subgroup analysis of the pivotal MARINA Study for ranibizumab in 2007 demonstrated that more than half (53%) of patients treated for wet AMD failed to maintain functional vision in their first eye, even after two years of treatment(4). This same study demonstrated that patients treated earlier in the course of the disease maintained near-normal vision (20/63 or better) approximately 90% of the time. Subsequent peer-reviewed publications have reaffirmed the benefits of early treatment and surveillance for high-risk patients(5,6), and the 2008 AAO Preferred Practice Patterns have recommended that "patients at high risk may be examined more frequently in an effort to detect asymptomatic CNV at a treatable stage(7)."
Arctic is pleased to announce that substantive scientific advances from leading academic institutions are being incorporated into the next generation of the Macula Risk test, Macula Risk® NXG. Seven novel markers from three large impactful bodies of work from the foremost researchers in this field(8,9,10), including the cholesterol metabolic markers (CETP, LPL, LIPC and ABCA1), the complement factor I gene (CFI) and the extracellular matrix genes (COL8A1 and TIMP3), are being added to the algorithm along with age, smoking, BMI and the clinical status of AMD. Validated risk determinations of two large and independent populations have demonstrated the ability of this model to accurately predict progression to advanced AMD within 10 years (AUC=0.895), with a sensitivity and specificity each greater than 80%(3). This is a level of performance unprecedented in the field of AMD risk assessment.
ArcticDx Inc. is a molecular diagnostic company with expertise in the design, development and commercialization of validated molecular diagnostic tests. Our business model is focused towards the rapid commercialization of Intellectual Property (IP) from international gene discovery programs. We combine the work of academic strategic partners (i.e. Cancer Care Ontario ARCTIC project - Colorectal Cancer; University of Michigan - Macular Degeneration) with our international commercialization processes to bring the latest research in molecular diagnostics to healthcare providers.
(1) Stone E, et al. Recommendations for Genetic Testing of Inherited Eye Diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing. Ophthalmology 2012;119:2408-2410
(2) Seddon J, et al. Prediction Model for Prevalence and Incidence of Advanced Age-Related Macular Degeneration Based on Genetic, Demographic and Environmental Variables. IOVS May 2009;50(5):2044-53
(3) Seddon J, et al. Prospective Assessment of Genetic Effects on Progression to Different Stages of Age-Related Macular Degeneration Using Multi-State Markov Models; IOVS, March 2012;53(3): 1548-1556
(4) Boyer D et al. Subgroup Analysis of the MARINA Study of Ranibizumab in Neovascular Age-Related Macula Degeneration, Ophthalmology 2007 Feb;114(2):246-52.
(5) Lim J, et al. Delay to Treatment and Visual Outcomes in Patients Treated with Anti-Vascular Endothelial Growth Factor for Age-Related Macular Degeneration. Am J Ophthalmol 2012;153(4):678-86
(6) Maguire MG, et al. Complications of Age-related Macular Degeneration Prevention Trial (CAPT) Research Group. Characteristics of choroidal neovascularization in the complications of age-related macular degeneration prevention trial. Ophthalmology 2008;115:1468-73
(7) American Academy of Ophthalmology 2008 Preferred Practice Patterns (http://one.aao.org/CE/PracticeGuidelines/PPP.aspx?p=1)
(8) Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010;107(16):7395-400.
(9) ChenW,StambolianD,EdwardsAO,BranhamKE,OthmanM,JakobsdottirJ,etal.GeneticvariantsnearTIMP3andhigh- density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010;107(16):7401-6.
(10) Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17(1):100-4.
SOURCE ArcticDx Inc.