Newborn Screening in Texas

1. Newborn Screening in Texas Jann Melton-Kissel Susan U. Neill

2. Newborn Screening (NBS) • Program to screen for congenital and heritable disorders • These disorders may cause severe mental retardation, illness, or death if not treated early in life • If treated, infants may live relatively normal lives • Results in savings in medical costs over time

3. Newborn Screening (NBS) • Identification is a two-step process • Laboratory analyzes blood specimens from infants - If a result is positive, laboratory staff notifies case management staff • Case management provides follow-up to assist families in linking with appropriate providers

4. Current NBS Program in Texas • 375,000 births a year • 750,000 specimens a year • 3.5 million test results reported • Follow-up on over 10,000 abnormal screens a year • Approximately 400 diagnosed cases per year

5. Current NBS Legislation & Rules Requires screening on five disorders • Phenylketonuria • Galactose-1-phosphate uridyltransferase deficiency • Sickling hemoglobinopathies, including sickle cell disease • Congenital adrenal hyperplasia • Hypothyroidism

6. Current NBS Legislation & Rules • Requires two screening tests on each newborn • Allows for billing of newborn screening • Establishes maximum fees

7. Current NBS Funding Sources • Medicaid • Fee Revenue from Providers • Title V

8. History of NBS Fees • November 1997 • Report from the Laboratory Finance Task Force • Adopt new public health services fees • Include non-Medicaid eligible and non-charity care newborns • February 1998 • Final Rules approved by Board of Health included maximum fee of $20.00 • March 1998 • Fee of $13.75 effective • April 2002 • Fee increased to $19.50 due to new technology • August 2003 • Board of Health approved revising the maximum fee to $38.00 • Current fee still $19.50

9. NBS Laboratory Responsibilities • Supply NBS collection cards • Receive and review each specimen for acceptable quality • Accession specimen into laboratory information system • Perform laboratory testing reviewing each test for quality parameters • Repeat testing on suspect specimens

10. NBS Laboratory Responsibilities • Notify case management immediately of any panic level values • Notify case management after confirmation of any marginal positive values • Provide written reports to submitter • Provide confirmatory and monitoring testing when requested

11. NBS Case Management Goals • Each baby born in Texas receives two newborn screening tests. • All infants with an abnormal screen receive prompt and appropriate confirmatory testing. • All infants diagnosed with newborn screening disorders are maintained on appropriate medical therapy.

12. Responsibilities of NBS Case Management • Link families of infants with abnormal screens with appropriate health care providers. • Track infants with abnormal screens and ensure further studies are done. • Ensure confirmed cases receive medical care. • Serve as a source of information about newborn screening disorders to clinicians, parents and the public. • Maintain client rosters for diagnosed disorders.

13. NBS Case Management Protocols • Three consultant committees review protocols • Metabolic Specialists • Hematologists • Endocrinologists

14. National Newborn Screening and Genetics Resource Center (NNSGRC) • Under contract with Health Resources & Services Administration (HRSA) • Provide information & resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, & government officials • Provide technical assistance reviews of states’ newborn screening programs

15. NNSGRC Consultative Review • Review of Texas NBS Program (February 28 through March 2, 2005) • Team comprised of 9 professionals from across the country who are instrumental in newborn screening programs • Conducted meetings with stakeholders in Austin, Dallas, Houston, and San Antonio

16. NNSGRC Identified Issues • Funding • Stakeholder Involvement • Screening • Follow-up • Diagnosis/Treatment and Management • Evaluation • Education • Management

17. HB 790 • By October 1, 2005, DSHS shall review & study NNSGRC assessment. • By March 1, 2006, DSHS shall conduct a study to determine the most cost-effective method of conducting newborn screening. • To the extent funding available, DSHS shall expand the number of tests to screen for additional disorders. DSHS may adjust fees, including fees assessed for follow-up services, tracking confirmatory testing, and diagnosis.

18. Newborn Screening Exceptional Item Appropriation • Personnel • 7 Laboratory Staff • 2 Case Management Staff

19. NBS Expansion • Using tandem mass spectrometry (MS/MS), expand by adding 4 disorders: • Glutaric acidemia type I (GA1) • Maple syrup urine disease (MSUD) • Homocystinuria • Medium-chain acyl-coA dehydrogenase deficiency (MCAD) • To the extent funding available, • Expand by adding 15 more disorders detected by MS/MS and 2 other disorders (cystic fibrosis and biotinidase deficiency) as recommended by American College of Medical Genetics (ACMG)