Eyeworld

EW NEWS & OPINION 14 laboratories, researchers, and clini- cians with similar interests and has allowed the exchange of expertise and the advancement of the field of ophthalmic genetics," said Elias I. Traboulsi, M.D., professor of oph- thalmology; head, Pediatric Oph- thalmology & Strabismus; and director, Center for Genetic Eye Dis- eases, Cole Eye Institute, Cleveland Clinic, Cleveland. Dr. Traboulsi is on the advisory board for eyeGENE and estimates that he has sent more than 200 samples to the program. The genetic counseling component Some vision researchers who work with eyeGENE will feel comfortable and qualified to provide genetic counseling, while others will not, Ms. Goetz said. For those who do not feel expe- rienced in the area of genetic coun- seling, they can use the National Society of Genetic Counselors (www.nsgc.org) to find a referral, Dr. Halperin said. Providing genetic counseling in- volves discussions of risk, a solid knowledge of the disease's clinical course and treatment options, and an understanding of the emotions that genetic counseling can trigger. Dr. Traboulsi is a board-certified geneticist and does indeed provide counseling. "I analyze [patients'] pedigrees and explain modes of in- heritance—dominant, recessive, X- linked—and recurrence risk in siblings or children," he said. Knowledge of the clinical disease course also helps him to provide in- formation on diagnoses and select the most appropriate molecular ge- netic test. "Most patients are interested to know about the course of the dis- ease, the risk of recurrence, and if there is any current or future treat- ment that would benefit them," he said. Dr. Halperin also provides ge- netic counseling, something he says is common for any physician who sees patients with hereditary retinal degenerations. He will ask for a com- plete family history and the patient's personal social history. He discusses the likely inheritance pattern and whether the patient's children or siblings are at risk. "Knowing the ex- tent of other people at risk for a sim- ilar vision-threatening disease is critical to the conversation, as these issues are emotionally charged," he said. Dr. Halperin usually provides counseling at a time when he is not behind in his schedule, so he can devote more time to listening to the patient's concerns and fears. Ultimately, eyeGENE will play an important role in vision research via clinical trial participation and the identification of future disease treatments, Dr. Halperin said. "Presently, even without the ability to offer trials, the patients benefit from eyeGENE through confirma- tion of diagnosis and a sense that they are doing something to help themselves," he said. For more information on eye- GENE, visit the program's website at www.nei.nih.gov/resources/eye- gene.asp. EW Editors' note: Ms Goetz and Drs. Halperin, and Traboulsi have no finan- cial interests related to their comments. Contact information Goetz: 301-443-7835, goetzke@nei.nih.gov Halperin: lhalperin@mac.com Traboulsi: eliastraboulsi@gmail.com January 2011 Sunday, March 27, 2011 8:00 p.m. − 12:00 a.m. Stingaree 454 6th Avenue San Diego, CA 92101 Voted San Diego's best nightclub four years in a row www.stingsandiego.com Bring your ASCRS•ASOA badge for entrance into this private party Supported by a grant from CareCredit Advancing continued from P.13

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