For simplicity, we will use the term “heritable” for the aggregate of all conditions detected by the
newborn screening blood test, congenital malformations, and other genetic disorders. We realize that
congenital hypothyroidism, the most commonly detected condition by newborn blood screening is usually not genetic
in etiology, and that many if not most congenital malformations are at least partially caused by other factors.
The term “genetic services” will be used to indicate medical and social services for children with
heritable conditions, including services provided by metabolic specialists.
“State program staff” will indicate the combined staff of a state’s genetics, newborn screening, and Children
with Special Health Care Needs (CSHCN) programs.
Physician metabolic medical geneticists, physician clinical medical geneticists, genetic counselors,
genetic nurses, and metabolic nutritionists will be termed "genetic specialists."