When Dr. Harold Jones, dean of the University of Alabama at Birmingham’s (UAB) School of Health Professions, points to a map of the genetic counseling programs in the Southeast, there are a lot of blanks. Although the sequencing of the human genome has produced unprecedented national demand, there’s a dearth of counseling programs offering a master’s degree. Florida, Georgia, Tennessee, Louisiana, Mississippi and Alabama have no way to train these high-demand professionals. The nearest schools on Jones’ map are in South Carolina and Arkansas. That’s about to change. Since UAB is a major genetic research center, it only makes sense that it include a genetic counseling program, Jones said. The program will begin in fall 2009. “UAB is wonderfully situated to meet this need,” said Jones, citing its established genetics and health professions programs. “It’s something that no one else in the region can provide.” That program will become increasingly valuable to physicians, said Dr. Bruce Korf, physician and chair of UAB’s department of genetics. Although genetic counseling has been widely used in prenatal care and pediatrics, genetic counselors will soon be in demand for all specialties. Tests will determine an adult’s susceptibility to cancer, Alzheimer’s disease, heart disease, diabetes or other illnesses. Internal medicine and family practitioners will be on the front lines as direct-to-consumer tests/advertising hits and the cost of genetic testing lowers to the cost of an MRI. It may not be too long, Korf said, that a person’s entire genome might be sequenced for $1,000. Both physicians and patients will need help in determining what information is needed, when it is needed and how it will be used. “We’re in the beginning of an explosion in the utilization of genetic counseling,” said Korf. Although breast and ovarian cancer genetic counseling is now available, risk assessments for diabetes and hypertension are just around the corner. These developments have far-reaching implications that physicians don’t have time to address, said both Korf and Lynn Holt, director of the UAB Genetic Counseling Program. Holt is one of those developing the master’s program. She said that once a physician refers a patient, the patient must be informed of both risks and benefits. Detailed family histories must be gathered, sometimes by contacting estranged family members. Getting an accurate medical history from “Aunt Betty,” who may be the only surviving member of a generation, can be time consuming and delicate. The information gathered might deem a patient’s risks inadequate for testing. A counselor will explain all testing ramifications. Patients will be told that information could be used to discriminate against them in life insurance or long-term care insurance or for employment in future decades, whether or not the test shows predisposition. Or, if a genetic disposition is established, the benefits might outweigh the insurance and other risks. Results might help in easing insurance coverage, such as justifying an MRI in pre-disposed breast cancer patients instead of a mammogram. Counselors also deal with the emotional aftermath, both for patient and extended family. What happens when one sister is predisposed to breast cancer but the other is not? How can a physician inform an entire family of genetic risks, when only one member is his patient? “This pushes families in ways they haven’t been pushed before,” said Holt. Test interpretation can also be highly specialized, said Korf. Holt explained that many tests don’t find all genetic mutations but require wider sampling. If a physician orders an incomplete test without counsel, patients may be given false hope and ignore treatable symptoms down the road. Jones’ map should change dramatically in 10 years. Hopefully it will show genetic counselors in every major medical center in Birmingham, practicing in multiple specialties, from colon cancer to diabetes. At present there are only four counselors in Alabama, all at UAB. But with this new program, that map is sure to change, meeting physicians’ new challenges with opportunities to treat at-risk patients long before they become ill. January 2008