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