Foundation News » Retinitis Pigmentosa
Making Genetic Counseling More Accessible
But as many people who have undergone genetic testing have learned, the process is often difficult to navigate. First, the patient has to not only find a doctor familiar with diseases such as retinitis pigmentosa, Usher syndrome and Stargardt disease, but one who can perform a thorough clinical exam. Then, based on the findings, a blood sample must be sent to the appropriate genetic testing laboratory. It often takes months for researchers to obtain test results, which are frequently inconclusive or difficult to interpret. That’s why genetic counseling is so valuable. A genetic counselor serves as both an educator and an advocate for the patient. And while some Foundation-funded clinical research centers employ genetic counselors, the company InformedDNA provides telephone-based, ocular genetic counseling services, making them accessible to almost anyone, anywhere. Karmen Trzupek, a certified genetic counselor with more than 15 years of experience in retinal degenerations, leads the company’s ocular genetics group. She and her colleagues work as a team to help guide people through the entire genetic-testing process. “If a person is newly diagnosed or if they sent a DNA sample to a lab 10 years ago, we can help them,” she says. “If someone is stuck in the middle of the process because they haven’t heard back from a research lab, we may be able to help get the process moving again. There are also some occasions in which genetic testing may not be appropriate for a family, and my job is to help them decide what course of action makes sense for them.” Karmen says that, as a result of advancing genetic-screening technologies, and the continual discovery of retinal-disease genes (about 200 to date), finding causative genes is getting easier. “It still isn’t a perfect or simple process,” she adds, “but every year, it is more likely that we’ll get a positive result. It may also be important for some people who receive a negative result to be retested at some point.” On average, InformedDNA’s genetic counseling services cost $385, and most commercial insurance companies cover such fees. Karmen notes that she can also work with patients to try to find a testing lab that accepts insurance for screening blood samples. To contact InformedDNA, call 1-800-975-4819 or visit its website. Both Karmen and Dr. Stephen Daiger, a Foundation-funded genetic researcher from the University of Texas Health Science Center at Houston, recently led a general session on genetic testing and counseling at the Foundation’s annual VISIONS conference in Minneapolis. The Foundation’s chief research officer, Dr. Stephen Rose, moderated the session and wrote about it on the Foundation’s blog, Eye on the Cure. |
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