Published: Oct. 8, 2009
Updated: Feb. 18, 2011
“Find the gene, save the world” is the whimsical rallying cry of researchers at Duke’s Ophthalmic Genetics Program -- and considering the importance of their work to families who have children with devastating congenital eye conditions, it’s not much of an overstatement.
Terri Young, MD, director of the Ophthalmic Genetics Pediatric Program, founded the program in 2006. Its goal, she says, is to provide directed and focused counseling and multidisciplinary care for patients with genetic disorders that affect vision. These disorders can be specific to the eye or a component of a syndrome that may involve other aspects of the body.
Young sees the development of such programs as an extension of the Human Genome Project. “In sequencing the entire human genome of about 30,000 genes and the technology that accompanied that, we’re able to look in more detail at specific inherited eye disorders,” she says. “Ophthalmic genetics, in particular, has exploded as a consequence.”
Still, the Duke program is one of only a handful of ophthalmic genetics programs. “It’s a relatively unusual program,” says Young. “We know of only about 15 genetic counselors in the country dedicated solely to eye disease.” Which is unfortunate, says Young, because there’s a real need for this kind of coordinated care.
“Often, parents come away from other facilities with a diagnosis -- that may or may not be correct -- and a handshake,” she says. “But they’re Internet-savvy. They recognize that more information and focused eye care can be provided for their child and family. They need a program that has the infrastructure already in place to care for them.”
Duke’s program offers families genetic counseling through a dedicated eye genetic counselor. “It’s really important that the patient meet with the genetic counselor,” says Young. “It can take many hours of information exchange and diagnostic test planning over an extended period of time. Most doctors cannot provide that kind of time. There may be multiple back-and-forth discussions with the gene screening lab about DNA findings. And there’s high interchange with other physicians that the patient might be involved with.”
Certified genetic counselor and clinical research coordinator Erica Burner, MS, CGC, offers families support and facilitates coordination with doctors and researchers.
“We link patients and families to the resources and the support they need to help them function as fully as possible in everyday life,” she says. “A large part of genetic counseling for patients is education, helping them understand the condition and its implications for the entire family.”
Genetic counseling is about more than just dealing with the patient’s diagnosis. “It’s not just a patient issue, it’s a family issue,” says Young. “It’s an issue in terms of who else may be affected or be a carrier for the condition, as well as providing recurrence risk information for those interested in family planning.”