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Next-generation genetic test for AMD has increased specificity
The test can now provide 2-, 5- and 10-year risk categories for vision loss due to wet AMD.
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The Macula Risk test, available since 2011, can help eye care practitioners more accurately gauge the chances of a patient developing wet age-related macular degeneration through the analysis of genetic factors. Now, its next generation, Macula Risk NXG, incorporates 10 additional genetic markers, along with nongenetic factors, to provide a 2-, 5- and 10-year risk for vision loss due to wet AMD.
“This risk factor test gives us a chance to plan a proactive series of testing and supplementation to minimize the risk score as much as possible and catch any changes early so we can try to prevent severe loss of vision,”
According to
David W. Nelson
“It’s important to assess the risk of the AMD patient with genetics to determine how often that patient needs to return for testing and follow-up,” he said. “The wet stage of AMD is often treated too late for visual benefit and thus results in a nonfunctional eye approximately 65% of the time today. That’s more than 140,000 people who are losing their first eye every year due to macular degeneration — and losing it permanently.
“It’s just a simple cheek swab,” Nelson continued. “If a patient has early signs of AMD, such as retinal drusen or hyper- or hypopigmentation changes in the macula, I have a technician take a cheek swab sample and process the necessary forms. We then send it to the lab using a courier service that is prepaid by the testing laboratory. The charge for the procedure is billed by the laboratory directly to the insurance company on behalf of the patient.”
A technician can take a cheek swab sample and
process the necessary forms.
Image: ArcticDx
SightRisk questionnaire
At Dubow’s practice, before considering the genetic test, he has every patient who is 50 or older complete a SightRisk questionnaire annually to help determine their overall risk for developing a level of macular degeneration that can cause permanent vision loss, he said.
“The questionnaire is about 15 questions,”
“From there, you can tell them that, based on their lifestyle, this is their risk and these are the modifiable factors, which can be manipulated to lower their overall risk,” Van Hoven continued.
The questionnaire is not a sole determiner for ordering the Macula Risk test, but it is an important factor, according to Dubow. It is a tool doctors can use to screen those who may need a closer look, he said.
“Patients who have been diagnosed with macular degeneration already, who have signs of drusen anywhere in the retina (either peripheral or central) or who come back with a high score on their SightRisk evaluation are eligible for genetic testing, as well as those who have a family history of macular degeneration,” Dubow said.
“My total time spent on discussing this process is usually 5 minutes or less,” he added.
Next steps
“It takes about 2 to 3 weeks on average for the lab to send us the results back,” Van Hoven said. “Category 1 is the lowest risk, meaning the patient has a lower risk for progressing to severe vision loss as a result of macular degeneration. Category 5 patients have the greatest risk.”
Clinicians should, however, be careful when explaining this to the patient, he said.
“While a category 2 patient is at a lower risk for significant vision loss, you still have to stress that while the chances are low, they’re not zero. Don’t get too confident and tell the patient he or she is likely never going to get that visually devastating form of AMD,” Van Hoven said.
Burt W. Dubow
“When we receive the genetic test results back from Arctic,” Dubow said, “we schedule the patient for a 15-minute consult. I review and discuss the results and make recommendations as to future testing and supplementation based on the protocol developed by Project Springboard AMD.”
Dubow explained that Project Springboard AMD has been initiated by Vision Source to help develop a protocol for determining a patient’s risk and setting a course of action to minimize the risk and detect change. He said it is based on peer-reviewed studies and advanced technology to screen patients for risk and test them for change.
“The protocol includes nutraceutical recommendations that have been validated in multiple studies as well,” Dubow said. “This gives practitioners a trustworthy and scientifically validated methodology they can implement in their practices immediately with a minimum of hassle.”
Reimbursement
Patients who have early to advanced signs of macular degeneration, including drusen, are eligible for insurance plan reimbursement of the test, according to Nelson. Medicare and other private insurance companies have covered the test for several years now.
According to Van Hoven, patients may have to pay $25 out of pocket if they do not have Medicare.
Genetic testing is one of the greatest advancements for eye care in decades, according to Dubow.
“With this process, we can be much more proactive about identifying those with the greatest risk and helping them deal with that risk,” he said. “We now have the ability to educate our patients in a highly scientific and believable way about the risks they may face as they age and how they can minimize those risks so that they preserve good vision. This gives patients a measure of control and accountability never before available and hopefully will save people’s eyes and vision, save our medical system a lot of expense and give eye care providers better long-term eye health management.”
“Currently,” Van Hoven said, “in many areas of the country, there is no consistency as to how doctors treat or manage macular degeneration. Macula Risk is a huge piece of the puzzle to help us figure out how to monitor AMD patients. At present, in many cases, by the time these patients get to the retina specialist, they’ve already lost significant vision in one eye. This is really a tremendous opportunity to be on the front end and save that first eye.” – by Daniel R. Morgan
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Disclosures: Dubow and Van Hoven have no relevant financial interests. Nelson is vice president for optometry professional relations for Macula Risk.