1. Day 2 You receive 2 reports on your desk –The first describes the possibility of expanding the states newborn screening panel to include Severe Combined Immunodeficieny Disorder (SCID) –The second shows a shortage of genetics health professionals who have training to care for infants identified with a disorder on newborn screen.

2. What do you need to know? Newborn screening is a coordinated, comprehensive program consisting of –Education –Dried blood spot screening –Follow-up diagnosis –Care coordination –Medical and dietary management –Long-term treatment

3. History of Newborn Screening Began in early 1960s with PKU screening test Dr. Robert Guthrie, developed a screening test for phenylketonuria –Bacterial Inhibition assay –Introduced a system for collection & transportation of blood samples on filter paper –cost effective wide scale genetic screening became possible.

4. History of Newborn Screening Why PKU? –Mental retardation preventable if treated < 3 months –Pushed by test developer and parent advocates –State mandates widely adopted, beginning 1963 in MA –Other conditions added by states –Galactosemia began in 1964 –Congenital hypothyroidism initiated 1975

5. Newborn Screening Card Blood spot

6. Expansion of Newborn Screening Almost all infants in US are now screened for 29 disorders (includes hearing) by Tandem Mass Spectrometry –In VA, 19 additional disorders are likely to be detected and reported These disorders may cause severe mental retardation, illness, or death if not treated early in life. Every infant is tested unless a parent or guardian objects on grounds that the test conflicts with their religious practice. If treated, infants may live relatively normal lives. Results in savings in medical costs over time.

8. Tandem Mass Spectrometry (MS/MS) Very precise, but interpretation is complex MS/MS can identify many, but not all metabolic disorders

9. How do you choose which diseases should be included in your states Newborn Screening panel?

10. Principles of Population Screening 1. Disease or health condition an important burden to target population (morbidity, disability, mortality) 2. Information known on prevalence of genetic trait in the target population and the burden of disease attributable to it 3. Natural history of the condition, from susceptibility to latent to overt disease adequately understood

11. Principles of Population Screening 4. Data available on test PPV and NPV for future disease/health condition in target population 5. Safety and effectiveness of the test accompanying interventions established

12. Principles of Population Screening 6. Consensus achieved using scientific evidence 7. Screening acceptable to target population 8. Facilities available for surveillance, prevention, treatment, education, counseling and social support

13. Principles of Population Screening 9. Screening as a continuous process including pilot programs, assurance of laboratory quality and health services, evaluation of impact and provision for changes based on new evidence 10. Cost-effectiveness of screening established

14. Principles of Population Screening 11. Access to screening and interventions 12. Safeguards for informed consent and privacy, avoidance of coercion or manipulation, and protection from stigmatization and discrimination

15. Evidence for Expanded NBS: Other Disorders Challenges –Other disorders detected by MS/MS are much less common –Reliance on clinical judgment and expert opinion Fragile X, Mucopolysaccharidoses, Spinal Muscular Atrophy SCID is required in CO, CT, MI, NY and WI

19. Recall your task Address: –the possibility of expanding the states newborn screening panel to include Severe Combined Immunodeficieny Disorder (SCID) –The shortage of genetics health professionals who have training to care for infants identified with a disorder on newborn screen.

20. Which Public Health Genomic Competencies Apply? Identify ethical and medical limitations to genetic testing, including uses that dont benefit the individual. Participate in strategic policy planning and development related to genetic testing or genomic programs. Participate in the evaluation of program effectiveness, accessibility, cost benefit, cost effectiveness and quality of personal and population-based genomic services in public health. Maintain up-to-date knowledge on the development of genetic advances and technologies relevant to his/her specialty or field of expertise and learn the uses of genomics as a tool for achieving public health goals related to his/her field or area of practice.

21. Which essential public health services would you recommend? (See Framework on Next Slide for Ideas)

23. A Potential Action Plan Public Health Service –Monitor health status to identify health problems –Mobilize community partnerships and action to identify and solve health problems –Develop policies and plans that support individual and community health efforts

24. You decide to –Create an advisory committee –Conduct long term evaluations with families to assess whether inclusion of new NBS tests affects clinical outcomes. –Partner with universities to provide genetic and specialty services