National Survey of Providers Treating Patients With Metabolic Disorders Identified by Newborn Screening Demonstrates Challenges Faced by Clinical Care Systems

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.