"I finally have a diagnosis. After nearly 57 years of uncertainty and not knowing, I finally know what I have," said Jane (not her real name). Jane has seen just about every eye specialist in and around Birmingham over the past 40 years and no one could give her a definitive diagnosis. In fact, she had been given many different diagnoses which made things even more confusing. A little over a year ago, Jane was referred to Dr. Rod Nowakowski, the director of VisionAmerica's Genetic Eye Clinic. Following a thorough exam and diagnostic testing, Dr. Nowakowski submitted her blood sample for genetic analysis. Jane definitely had a variant of a macular dystrophy, but it wasn't until the genetic analysis was complete that Dr. Nowakowski could give her a clear answer. Jane has a rare eye disease called Stargardt's Disease. She was elated to finally have an answer. Precision medicine is a hot topic in the medical world and plays a central part of VisionAmerica's medical and surgical services through our genetic eye clinic. Cases like Jane's are becoming more and more common. What we are seeing now is a clear progression from the "one size fits all" approach to medicine. Instead of having patients with similar diagnoses be prescribed "blanket treatments," we are now able to diagnose a condition at the molecular level which provides the ultimate basis for precision medicine. At this point, for people like Jane, treatments--including potential gene therapy--can start to be evaluated. While we don't always have a treatment, the first step in many cases is trying to establish a definitive diagnosis. Dr. Nowahowski broke down Jane's diagnosis in an attempt to shed a little more light onto the complexities of gene therapy and diagnosis at a molecular level. "More than 640 mutations in the ABCA4 gene have been found to cause Stargardt macular degeneration," said Dr. Nowakowski. "Mutations in this gene are the most common cause of this eye disease. At least three causative mutations have also been found in the ELOVL4 gene. "For our patient, we were able to get a precise diagnosis at the molecular level and identified a single-known pathogenic gene variant (mutation) in the ABCA4 gene," continued Dr. Nowakoski. "She was homozygous for this variant and we now know the cause of her condition at the molecular level." As with most progressions in medicine, the diagnosis often precedes the treatment. We are, however, already seeing the early implementation of gene therapy with numerous patients. According to the NIH Pharmacogenomics Research Network (PGRN), scientists have identified more than three million genetic variations that may relate to disease risk or drug responses. This means that we are closer than ever to more accurate diagnosis, drugs, and dosing which will greatly improve the quality of healthcare we are able to provide. Many ask, "Why send patients to be diagnosed if treatment isn't currently available?" While a valid question, there is actually no time better than the present to obtain a diagnosis. The primary benefit is that when the treatments are ready, patients will already have what can be a three-month diagnosis process behind them. This all but guarantees them a spot in the front of the line for treatment. Another benefit is the patient's peace of mind that comes with knowing and understanding a disease at the genetic level. Knowledge is power and, in this case, hope with potential treatments that might only be months away. Imagine Jane, after 57 years of suffering with symptoms of an unidentified disease, finally being able to call it by name and even knowing the specific gene variant. The relief she felt and anticipation of future treatments at a genetic level are likely a form of treatment in and of themselves. One of the most common eye diseases that is being broken down into its genetic components is Retinitis Pigmentosa. What historically has been a difficult genetic disease to treat can now be broken down on a patient-by-patient basis, which will make successful treatment much more likely. VisionAmerica is excited and proud to offer genetic testing as a service to our network. Our goal is to partner with you in a joint effort to provide the best healthcare possible to your patients and personalized medicine is a fantastic step forward in our partnership. If you have a patient that is currently suffering from a known or suspected genetic eye disease and would like to refer them for genetic testing, please do not hesitate to call us at 205-943-4600.
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August 2019
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