Genetics and Metabolism: Our Care Team
UW Health's Genetics and Metabolism team includes physicians, genetic counselors, a nurse practitioner and registered dieticians. Team members collaborate to provide comprehensive and coordinated medical management, education, counseling and support to individuals with inherited conditions and birth defects.
The Clinical Geneticists on the Genetics and Metabolism team are pediatricians who have completed an additional residency in medical genetics. They are specialists in the diagnosis and management of a wide range of disorders including congenital malformations (birth defects), inborn errors of metabolism, growth disorders, chromosomal abnormalities, inherited disorders including those of adult onset and neurodevelopmental concerns. They collaborate closely with the other members of the team to provide comprehensive, family-centered care in parallel with patients' primary physicians.
Developmental pediatricians are pediatricians who have specialty training in conditions that affect development and behavior of children. They address concerns from parents or other physicians about possible delays or differences in development that could indicate conditions such as autism, global developmental delay (mental retardation) and cerebral palsy.
They work closely with parents, developmental therapists (occupational therapists, physical therapists and speech language pathologists) and other physicians to help children maximize their developmental potential.
Genetic counselors are health professionals with specialized graduate degrees and clinical experience in the areas of medical genetics and counseling. As part of the Genetics and Metabolism team, they:
- Collect and interpret family and medical history
- Provide information about the genetic basis and possible reproductive risks associated with a genetic disorder or birth defect
- Provide information and decisional support about genetic testing
- Coordinate recommended genetic testing including providing assistance with necessary insurance preauthorization
- Provide information for supportive and educational genetic health-related resources
- Serve as a resource for local health professionals who care for families and individuals with genetic disorders or birth defects
Pediatric Nurse Practitioners
Pediatric nurse practitioners are registered nurses with advanced degrees and additional training in specialty areas. Nurse practitioners on the Genetics and Metabolism team:
- Perform medical evaluations
- Coordinate care for patients with complex needs including providing support, problem solving and referrals to other health care providers and community services
- Provide support and education to young women with phenylketonuria (PKU) and their parents regarding reproductive health, including support during pregnancy
- Manage/prescribe Kuvan therapy, the first FDA-approved medication for the treatment of PKU
Registered dietitians are food and nutrition experts who have completed an advanced degree in dietetics and a supervised practice program. As a part of the Genetics and Metabolism team, they:
- Prescribe specialized diets to people with inborn errors of metabolism
- Provide nutritional counseling to people with inborn errors of metabolism and their families
- Monitor ongoing metabolic status, and adjust diet prescription as needed
- Adjust dietary therapy to ensure proper nutrition and metabolic control throughout different life stages, including infancy, childhood, adolescence, adulthood, and pregnancy