During the closing Saturday session on genetic testing at VISIONS 2012, those questions were answered superbly by Dr. Stephen Daiger, one of the world’s top genetic researchers for retinal diseases, and Karmen Trzupek, a genetic counselor who works with patients affected by these conditions. You’d be hard-pressed to find professionals more knowledgeable about this complex research field.
Both speakers were excited to report that the genetic testing process — which can still be challenging for patients, doctors and researchers — has made tremendous strides over the last decade. “The tests we have available today would have seemed like science fiction just 10 years ago,” said Dr. Daiger.
He noted that identifying the disease-causing gene — which can be done in roughly 50 percent of all cases — will confirm the diagnosis and help people better understand how their diseases will affect them, family members and future children. It can also help identify which emerging treatments or clinical trials are appropriate.
He said that it is “really cool” that he is now referring some of his patients to relevant clinical trials as a result of finding their culprit gene. At the same time, Dr. Daiger acknowledged that the process can sometimes be cumbersome, “but we and the Foundation are working hard to improve upon it.”
Navigating the process is where the services of someone like Karmen come in. Armed with a thorough clinical report from a doctor familiar with retinal degenerations, genetic counselors like her can help patients determine: 1) where a blood sample should be sent; 2) the chances of getting a positive result; and 3) what the result means to the individual and the family.
Both Karmen and Dr. Daiger recommended that a patient visit one of the clinical research centers supported by the Foundation, if possible, to get a clinical work-up and genetic counseling. These facilities have highly qualified doctors and counseling professionals. (For information on a center near you, call 1-800-683-5555 during regular business hours and ask for the Foundation’s information and referral department.)
If visiting one of these centers isn’t convenient, Karmen provides telephone- and web-based counseling services through the company InformedDNA. She works with patients and families to determine if testing is appropriate, which clinical center or physician should be seen and where a blood sample can be sent.
For people who were genetically tested several years ago and didn’t get a result, it is important that they follow up with the testing center or the physician who ordered the test. It may be time for their blood sample to be retested or for a new sample to be submitted. In some cases, it may make sense to start the process anew, and contacting Karmen can be a good place to start.
– Dr. Steve Rose
Pictured above: Dr. Stephen Daiger (standing, left) and Dr. Rose speak with a Foundation member after the session.