Division chief Richard Erbe, MD, a founding fellow of the American Board of Medical Genetics and a professor of pediatrics at the University at Buffalo, spoke to us about the division’s tripartite mission of clinical care, research and education.

What kind of clinical care does the Genetics Division offer?

The activities are organized along two lines: One is birth defects and genetic counseling, and the other is inherited metabolic disorders. Within birth defects and genetic counseling, we evaluate and test outpatients for such problems as developmental delay, unusual features, chromosomal disorders such as Down syndrome, autism and other conditions before returning them to their primary physicians for continuing care.

Another outpatient aspect of our birth defects and genetic counseling that’s very important is cancer gene testing. For individuals seeking this type of testing, we go through the careful assembly of family history, reviewing the records and then selecting appropriate tests. In metabolic disorders, we receive referrals from family physicians and pediatricians, but most of our referrals come from the New York State Newborn Screening Program.

In addition to these outpatient programs, both our birth defects and genetic counseling program and our inherited metabolic disease program see many inpatients in consultation at Oishei Children's Hospital or other hospitals in the region or in nearby regions of Pennsylvania.

Tell us about the Division’s staff.

Our staff includes MDs certified in pediatrics and in internal medicine, a nurse practitioner, genetic counselors with specialty board certification, and metabolism program nutritionists.  We provide care from conception to advanced age, bringing the full range of genetic services to our region. As treatment of disorders such as cystic fibrosis has improved, patients with this and other serious disorders have “aged out” of their relationship with their pediatricians. The fact that we’re staffed in this multidisciplinary way allows us to continue seeing patients from birth to advanced age. We also have the special capability of seeing adults for conditions that come along a little later. These would include breast and ovarian cancers, metabolic disorders of adulthood, neurologic disorders such as Alzheimer’s disease and others.

What kind of outreach is the Genetics Division involved in?

We’re a key part of the hospital’s Lung and Cystic Fibrosis Center, and Sickle Cell and Hemoglobinopathy Center, as well as the Muscular Dystrophy Association. Our genetic counselors participate in these clinics and share our expertise, partnering with the physicians at these centers to educate and provide care to patients. We also provide prenatal diagnosis and genetic counseling to the hospital's OB/GYN Centers - Kensington OB/GYN and Niagara Street OB/GYN.

How is your Division helping educate the next generation of physicians understand genetics?

We teach in the first- and second-year courses at the University at Buffalo’s medical school, and we have a month-long elective for fourth-year medical students, pediatric residents and internal medicine residents. We also teach in quarterly sessions for the half of the region’s internal medicine residents in the Catholic Health System.

How has the completion of the Human Genome Project, our better understanding of DNA and other advances transformed genetics?

There are many more tests than ever before, and they are much more powerful. We have progressed from only being able to count chromosomes and tell one chromosome from another to being able to identify defects in the function of nearly every gene. Although our ability to diagnose based on single genes is enormously improved, the major challenges are now focused on how these genes work together under environmental influences to produce predispositions and disorders, and how we can translate this new knowledge into prevention and treatment. The new molecular techniques give us almost too much detail, and this will require a lot of digesting before its full benefit can be realized. The Division of Genetics aims to facilitate the transfer of this new knowledge to all of our professional colleagues and patients.