Eyeworld

EW NEWS & OPINION 13 certain diseases could benefit them. The program received its first patient sample in 2006. Thus far, eyeGENE has more than 2,000 patient sam- ples. The program originally studied four genes; it now studies more than 60 genes, Ms. Goetz said. How it works Patients participate in eyeGENE only through an eyecare or genetics pro- fessional. Clinicians register with eyeGENE and provide certain infor- mation about the patient. The eye- GENE system will ask particular questions—such as visual acuity, re- fractive error, and optical coherence tomography or electroretinogram re- sults—to confirm that the patient's symptoms match the condition in question. Patients must sign consent forms and agree to have a blood sample taken; the results of this sam- ple, as well as their eye exam results, will be available via the eyeGENE system. Arranging for the blood sample can be tricky because many ophthal- mologists and optometrists do not draw blood, Ms. Goetz said. Patients often turn to their family doctor or a local laboratory for this step. In addition to submitting pa- tient data, the clinician must agree to provide genetic counseling prior to submitting the patient's sample and once the genotyping results are available. If the clinician does not feel qualified to provide this coun- seling, eyeGENE can help the pa- tient and provider find a genetic counselor. There are no costs to the patient or provider for the results of the genotyping test; however, eyeGENE does not cover the blood draw or shipping costs. Test results are done by one of 12 CLIA-approved labs across the country, and results, which are usu- ally ready in 4-6 months, are sent to the referring physician. If patients wish, they can provide their contact information to eyeGENE so they can be told about future clinical trials re- lated to their disease. Clinicians can send up to 10 samples a year; if they send more than 10 samples a year, they need to put a protocol through an institu- tional review board, Ms. Goetz said. Once the protocol is approved (if cli- nicians plan to send more than 10 samples a year), they can submit samples at any time. Benefiting ophthalmology Working with eyeGENE takes a bit more time and paperwork than with your typical patient, Ms. Goetz said. In fact, sometimes it is the patient who encourages the eyecare profes- sional to participate. Those who do enroll qualifying patients gain a good deal of respect, she said. Additionally, the patient sam- ples will help benefit future clinical trials, and doctors may be contacted by researchers for additional infor- mation. "This can lead to publica- tion and possible authorship. It's a collaborative effort," Ms. Goetz said. The samples available via eye- GENE augment similar repositories available through other private insti- tutions, Ms. Goetz added. Retinal specialist Larry Halperin, M.D., Fort Lauderdale, Fla., sees the benefits of eyeGENE participation. "We have eight retina surgeons in our practice, and every- one refers their patients to eyeGENE. We feel strongly that if we can iden- tify the exact genetic defect causing a retinal degeneration, then we can confirm the diagnosis, and we can hope to offer patients access to fu- ture clinical trials that may involve specific genetic fixes," Dr. Halperin said. Dr. Halperin estimates that his practice has sent blood samples from close to 50 patients. eyeGENE has sent his practice collection kits; his practice draws blood and fills the designated tubes, sending them back to eyeGENE via FedEx. eyeGENE "has brought together January 2011 continued on page 14

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