1. Newborn Screening Overview Marie Mann, M.D., M.P.H. U.S. Department of Health and Human Services Health Resources and Services Administration Maternal and Child Health Bureau

2. Newborn Screening The term is used to refer to two programs that may or may not have linkages: 1.Traditional biochemical screening for inherited conditions (metabolic, endocrine, hematological, etc.) 2.Screening for congenital hearing loss In this presentation, “newborn screening” will refer to the traditional heelstick biochemical testing program.

3. What is Newborn Screening ? An essential public health program that prevents catastrophic health consequences through early detection, diagnosis and treatment. A complex system of testing, evaluation, and treatment that involves families, laboratory personnel, administrative and follow-up personnel, primary and specialty health care professionals, policy makers, sources of payments, manufacturers, and other interested persons or groups.

4. Brief Review: Newborn Screening History 1960s  Guthrie developed filter paper test for PKU. (Identified newborns with PKU whose diet could be modified thus preventing mental retardation.) Bob Guthrie Guthrie - 1961

5. Brief Review: Newborn Screening History 1960s  Parents pressed for testing through organized lobbying.  State legislatures began to pass mandatory newborn screening laws to reduce institutionalization.  Guthrie developed other filter paper metabolic tests.

6. Brief Review: Newborn Screening History 1970s – 1980s  Programs expanded to higher incidence disorders – congenital hypothyroidism – and disorders that result in death – congenital adrenal hyperplasia, galactosemia.  Legislatures began asking programs to become self- supporting.

7. Brief Review: Newborn Screening History 1990s  DNA tests used as second tier – Sickle Cell Disease screening, Cystic Fibrosis screening  Tandem mass spectrometry (MS/MS) adapted to allow simultaneous detection of multiple disorders

8. Brief Review: Newborn Screening History 2000s  Newborn hearing screening  Public pressure to expand testing with MS/MS  Emphasis on program integration (especially data)  Privacy concerns – residual blood spot, federal HIPAA rules (data sharing) Newborn Hearing Screening (OAE)

10. Components of the Newborn Screening System Screening: Sample collection Sample submission Laboratory testing Follow-up: Obtain test results Get results to family Repeat test(s) if needed Ensure diagnostic testing Diagnosis: Subspecialist Assessment Results shared with family Counseling if necessary Management: Treatment Long-term follow-up Specimen storage Evaluation: Quality assurance Outcome evaluation Cost effectiveness

11. Components of the Newborn Screening System Screening: Sample collection Sample submission Laboratory testing Follow-up: Obtain test results Get results to family Repeat test(s) if needed Ensure diagnostic testing Diagnosis: Subspecialist Assessment Results shared with family Counseling if necessary Management: Treatment Long-term follow-up Specimen storage Evaluation: Quality assurance Outcome evaluation Cost effectiveness Education

12. 3 Disorders (1) More than 8 Disorders (32) [ More than 30 Disorders (15)] 7 Disorders (4) 6 Disorders (4) 5 Disorders (2) 4 Disorders (6) 8 Disorders (2) U.S. Newborn Screening Mandated Disorders – Nov. 2004 (Note: Other disorders may be offered but are not mandated and some mandated may yet not be implemented) >30 26 >30 9 26 40 14 29 9 9 >30 29 19 12 9 10 21 >30 13 10 >30 27 DC >30

13. Disorders Mandated in United States November 2004

14. NNSGRC Web site: http://genes-r-us.uthscsa.edu http://genes-r-us.uthscsa.edu (Genetics and Newborn Screening Resource Center of the U.S.) Includes links and online tools for newborn screening and genetics programs including: –Program links and testing summaries –State newborn screening data accumulated annually On line genetics and newborn screening program information and assistance:

15. Summary  Newborn Screening Works – Approximately 4,000 newborns are detected annually with one of the conditions being screened.  There are many program differences across the nation.  More than 1,000 newborns with detectable conditions go undetected because they are not screened for all conditions currently available.

16. Summary  A national screening mandate does not currently exist.  There is Federal and State interest and support in improving programs to improve equity between programs.  There is continuing national interest in expanding newborn screening programs.

17. For additional information, please contact : Marie Mann, M.D., M.P.H. 301-443-1080 mmann@hrsa.gov