The Division of Genetics provides diagnostic, management and genetic counseling services to pediatric and adult patients, including familial cancer risk assessment; genetic evaluation, diagnosis, treatment and management of genetic disorders and inborn errors of metabolism; and genetic counseling for reproductive/prenatal genetics.
Clinical care is 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 is 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 NYS 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.
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 are 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.
The Division also includes an Inherited Diseases Specialty Center, designated by the New York State Department of Health, and a Krabbe Disease Screening Unit. The Metabolism Program provides enzyme replacement therapy for Gaucher disease, Fabry disease and mucopolysaccharidosis type 1 (Hurler syndrome, Scheie syndrome). All physicians are certified with the American Board of Medical Genetics, and all counselors are certified with the American Board of Genetic Counselors. The Division works very closely with both the Cytogenetics and Molecular Genetics Laboratory and the Robert Guthrie Biochemical & Molecular Genetics Laboratory.
Patricia Schwarzkopf, MSN, CPNP
Erin Kelter, MS, CGC
Erica Wahl, MS, CGC
Metabolism Program Nutritionists:
Jessica Briggs, RD
1001 Main Street
Buffalo, NY 14203