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

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Presentation on theme: "Newborn Screening in Texas Jann Melton-Kissel Susan U. Neill."— Presentation transcript:

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 Funding20062007Biennium General Revenue$ 3,217,146$ 702,002$ 3,919,148 Medicaid$ 32,769$ 34,227$ 66,996 Interagency Contract$ 32,769$ 34,227$ 66,996 Public Health Svc Fee$ 1,486,218 Medicaid Reimbursement$ 1,857,912 $ 3,282,684$ 4,114,586$ 7,397,270

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)


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