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

Academic Article


  • 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.
  • Authors

  • McClain, Monica R
  • McGrath, Robert
  • Stransky, Michelle L
  • Benkendorf, Judith L
  • Status

    Publication Date

  • July 2015
  • Published In


  • Female
  • Health Care Surveys
  • Humans
  • Infant
  • Infant, Newborn
  • Insurance Coverage
  • Male
  • Metabolic Diseases
  • Neonatal Screening
  • Quality of Health Care
  • genetic services
  • health care delivery
  • health care reform
  • inborn errors of metabolism
  • newborn screening
  • Digital Object Identifier (doi)

    Pubmed Id

  • 25469006
  • Start Page

  • 759
  • End Page

  • 764
  • Volume

  • 54
  • Issue

  • 8