Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results.

BACKGROUND: Although primary care physicians are responsible for providing follow-up care after a positive newborn screen, little is known about their willingness or ability to do so.
METHODS: A national mail survey of a random sample of 350 general pediatricians and 350 family physicians was conducted from April to June 2006.
RESULTS: The response rate was 63% among pediatricians and 50% among family physicians. Most pediatricians (89.7%) and nearly one half of family physicians (44.1%) had had a patient with a positive newborn screen within the past 5 years. Most respondents thought that primary care physicians should be responsible for informing families about a positive newborn screen (73.2%), arranging confirmatory testing (66.0%), and coordinating subspecialty referral (85.3%). However, more than one half (56.2%) would prefer newborn screening programs to provide the initial evaluation of positive newborn screening results. Some respondents (but fewer pediatricians than family physicians) reported that they were not competent to discuss conditions included in newborn screening panels (eg, 22.6% of pediatricians and 53.2% of family physicians for phenylketonuria and 8.8% of pediatricians and 40.4% of family physicians for congenital hypothyroidism). More than one half (58.3%) thought that families with a child diagnosed as having congenital hypothyroidism should receive formal genetic counseling. Respondents were less likely to think that families with a child with sickle cell trait, compared with families with a child who is a cystic fibrosis carrier, should receive formal genetic counseling (69.3% vs 84.1%).
CONCLUSIONS: Many primary care physicians are not prepared to manage the follow-up care of children with a positive newborn screen, including initial counseling, diagnosis, and subspecialty referral. New strategies are needed to ensure appropriate and equitable health care delivery.