A genetic counselor working in newborn screening specializes in public health genetics, metabolic and endocrine diseases, hemoglobinopathies, primary immune disease, cystic fibrosis, hearing loss, and critical heart disease. Newborn screening genetic counselors may work for the state health department or meet with babies and their families in clinic.
There are several reasons you may meet with a state or clinical genetic counselor about newborn screening:
- To discuss your baby’s positive newborn screening result
- Personal or family history of a condition screened for through newborn screening
- Concerns about being a carrier of a condition screened for through newborn screening
- Concerns about risks of newborn screening disorders in future children
- To discuss available genetic and biochemical testing options