OBJECTIVES: To evaluate care processes for infants who are identified by newborn screening (NBS) and diagnosed with metabolic disorders during their first year of life. METHODS: A survey instrument was used to assess the scope and intensity of services needed to provide quality health care for patients from birth to 1 year of age who have a metabolic disorder identified by NBS. Significance testing was not performed; descriptive analyses are reported. RESULTS: Providers spend significant amounts of time on activities that are not direct patient care. The most challenging aspect of their work was the lack of reimbursement for care. CONCLUSION: Provision of genetics services for patients with a metabolic disorder is time and labor intensive, and insurance coverage and reimbursement for these services remain inadequate. Health care payment and/or system reform is necessary to provide optimal care to patients with metabolic disorders identified by NBS.
