Macula Risk is a combined pharmacogenetic and prognostic DNA test to determine the patient’s risk of progression to advanced AMD based on their individual genetic risk profile and to aid in the selection of appropriate eye supplement formulations for a patient diagnosed with intermediate Dry Age-related Macular Degeneration.
Early Detection Can Save Vision Vision can be saved if AMD is detected at an early stage. However, most people don’t know they are at an increased risk and don’t go to an eye care professional until the symptoms worsen and disease is advanced in one eye. It is then is too late to save the first eye other than perhaps preventing further vision loss through treatment with eye injections. The most important effort is then directed towards saving the second eye. Patients with the highest genetic risk will progress approximately 12 years earlier and they should be monitored by their eye doctor much more frequently to catch the disease as early as possible.
AMD is a multifactorial disease involving the interplay of genetic, lifestyle and environmental factors. Macula Risk combines a patient’s current AMD status, genetic predisposition, and non-genetic risk factors to determine his or her 2, 5 and 10-year risk of developing advanced AMD, either geographic atrophy (GA) or choroidal neovascularization (CNV). The complexity underlying AMD onset and progression is reflected in the number and diversity of risk variables incorporated into the Macula Risk PGx test as shown below:
Macula Risk Prognostic Results
The patient’s AMD prognosis is presented on the first page of the Macula Risk Laboratory Report. The following information is reported:
Clinical information (age, smoking history, BMI and AMD status); Genetic results (genotype for 15 AMD-associated genetic markers, and the Genetic Risk Subscore); The patient’s 2, 5 and 10-year risk of progression to advanced AMD. AREDS personalized vitamin recommendation based on genetic results
A sample report with key features highlighted is shown below:
Based upon the 10-year risk of progression, patients are stratified into one of five Macula Risk (MR) categories ranging from MR1 to MR5. These MR scores can be used to personalize disease management programs for patients. The five MR categories and their respective 10year risk values are:
Enhancing the Clinical Exam
Traditionally, eye care professionals have used the results of a clinical exam to estimate a patient’s risk of progression to advanced AMD. The patient’s risk was assumed to be the average progression risk for his or her disease phenotype category as determined in an AMD natural history study such as the AREDS trial. It is important to recognize that this method of risk assessment is generalized and not specific to the patient. Illustrated below is how Macula Risk enhances the clinical exam to personalize AMD risk assessment. On the left is the average 5-year progression risk for each AREDS disease category . When Macula Risk is added to the clinical risk assessment, a range of personalized 5-year progression risk is possible. The 5-year personalized risk ranges, displayed on the right, are specific to a high school educated 75-year-old male who is a former smoker and has a BMI of 24.
Adding Macula Risk to the risk assessment reveals that there may be significant overlap between the risk assigned using the clinical eye exam with AREDS Categorization alone. For instance, some intermediate AMD (AREDS Category 3) patients may have a lower risk than some early AMD patients (AREDS Category 2). The range of risk is significant. Risk for vision loss for patients with intermediate AMD could be less than 10% or higher than 70% even though they might look the same in a clinical examination.
While intermediate AMD patients have a 5-year generalized risk of progression to advanced AMD of 18.3%, the 5-year personalized risk ranges from 7% to over 70% depending upon the patient’s genetic risk. Employing Macula Risk in the advanced AMD prognosis would result in patients with such a wide range of risk being managed differently, whereas in the past they may have been managed in the same manner.
Macula Risk provides a powerful tool for the eye care professional and retina specialist to more precisely stratify their AMD patients. This in turn informs better management practices as well as a more efficient utilization of limited resources.