Recorded presentation

Daniel Bender, MHS, Jerry McClure, BS, Marianne E Zotti, DrPH, RN, and Tom Carey, MD. Office of Health Services, Mississippi State Department of Health, PO Box 1700, Jackson, MS 39215-1700, 601 576-7743, dbender@msdh.state.ms.us

Background: Prior to 2003, the Mississippi State Department of Health (MSDH) conducted newborn screening for five conditions: phenylketonuria (PKU), hypothyroidism, galactosemia, congenital adrenal hyperplasia (CAH), and sickle cell. In March 2002 the Mississippi legislature passed a bill mandating the State Board of Health provide “comprehensive” newborn screening based on recommendations of the state Genetics Advisory Committee. This committee recommended adding cystic fibrosis, biotinidase deficiency, and an additional 33 conditions screened via tandem mass spectrometry—yielding a total of 40 conditions screened among newborns. Specific Aim: To describe the state experience in implementing expansion of newborn screening. Methods: Initial implementation included developing a national RFP to select a laboratory, adopting a new fee schedule, creating procedures for follow up of children with positive screens, creating health education materials, notifying hospitals and physicians regarding the change, and adding health department district level teams to case manage children with positive screens. Results: Expanded newborn screening for 40 conditions began on June 1, 2003. Slightly more than four months into the expanded program MSDH identified children with: cystic fibrosis (n=2), biotinidase (n=3), galactosemia (n=1 and several carriers), TSH elevations (n=5), hemoglobinopathies (n=30), and possible propionic acidemia (n=1). New child health team district level positions have been created and are being filled. Discussion: Mississippi now has one of the most comprehensive newborn screening programs in the nation. The MSDH still has many ongoing issues to grapple with, such as appropriate follow-up for all abnormal test results and assuring appropriate referrals to physicians and family counseling.

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