Physicians can advance genetic research by enrolling patients in existing trials, researcher says

ORLANDO, Fla. – In order for research on incurable inherited diseases to advance, physicians must identify patients that might have these genetics conditions and refer them for enrollment in clinical trials, according to a researcher speaking here.

Edwin M. Stone, MD, PhD, a retina specialist and genetic researcher at the University of Iowa College of Medicine's Carver Laboratory, presented the Leonard Apt Memorial Lecture this year at the American Association for Pediatric Ophthalmology and Strabismus meeting.

“We need to get hold of people with specific genetic mutations and study them,” Dr. Stone told meeting attendees. “This is the only way we are going to find answers that may lead to treatment for these patients.”

When faced with a patient with an untreatable inherited condition, Dr. Stone urged physicians not to “close the door” on these patients. “Never imply that there’s nothing you can do,” Dr. Stone said. “There’s always something we can do.”

He said that most patients with a degenerative, incurable illness want to be involved in finding a cure or cause of their condition and are often receptive to the idea of enrolling in a clinical trial.

Dr. Stone said that genetic tests soon to be available will enable physicians to test patients with hereditary disease to determine which gene may be associated with their illness.

“A pathogenic probability scale will let clinicians know if a gene is associated with, very likely associated with, or not at all associated with causing a particular illness,” Dr. Stone said. These tests will aim to be user-friendly and cost-effective so that clinics will use them, and ultimately genetic testing will become the “standard of care,” he said.

At the Carver Laboratory, Dr. Stone said, researchers are currently conducting studies of three genetic illnesses: Bardet-Biedl syndrome, Leber’s congenital amaurosis and Usher syndrome. Physicians interested in enrolling patients in these studies may visit the lab’s Web site, www.carverlab.org, he said.