NEWBORN SCREENING IN PAKISTAN When & How ?

1. NEWBORN SCREENING IN PAKISTANWhen & How ? Col Zeeshan Ahmed FCPS(Pediatrics),FCPS(Neonatology) Head Of NICU Military Hospital Rwp.

2. CAN WE MAKE A DIFFERENCE?

3. Mission of Newborn Screening: AAP “Newborn screening…aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities.”

4. Mission of Newborn Screening: AAP “Newborn screening…aimed at the early identification of conditionsfor which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities.”

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

6. What is Newborn Screening? • An essential public health program that prevents catastrophic health consequences through early detection, diagnosis and treatment. • A complexsystem 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.

7. Newborn Screening • Newborn screening developed worldwide from a keen interest and understanding of Inborn Errors of Metabolism- a term introduced by Garrod in 1908 • Newborn Screening has focused historically on the identification of conditions that adversely affect the CNS • Increasingly, conditions involving other areas, such as the immune and cardiac systems have been recommended for the newborn screening panel • Newborn screening has been driven to a considerable extent by available technology, and increasingly by better understanding of conditions as well as by new diagnostic technologies and treatments.

8. THE US EXPERIENCE

9. Newborn Screening for Genetic Diseases in the United States • Over 4 million infants are screened each year • Newborn screening is by far the most commonly performed testing for genetic diseases in the United States

10. 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.) Guthrie - 1961 Bob Guthrie

11. Disorders Included Under Current Mission CongenitalHypothyroidism Sickle Cell Disease PKU Late 1970s 1987 1963

12. ? Cystic Fibrosis Tandem Mass Spec Disorders 2003 2004 20??

13. Selection Criteria For ScreeningPanel • Incidence of conditions • Identifiable at birth • Burden of disease • Mortality/ Morbidity prevention • Availability of test • Test characteristics • Diagnostic confirmation • Availability of treatment • Cost of treatment • Efficacy of treatment • Benefits of early intervention • Benefits of early identification • Acute management • Simplicity of therapy 13

14. Uniform Screening Panel29 Primary (Core) Conditions • All result in serious medical complications (e.g., developmental delay) and/or death if not recognized early • All children with these conditions benefit from early diagnosis and treatment 14

15. Expanded NBS – 29 conditions • 20 inborn errors of metabolism • 9 organic acid disorders • 5 fatty acid oxidation disorders • 6 amino acid disorders • 3 hemoglobinopathies • Sickle cell and related disorders • 2 endocrine disorders • Congenital Hypothyroidism • CAH • 3 other metabolic disorders • Biotinidase deficiency • Galactosemia • Cystic Fibrosis • 1 hearing loss

16. 40 >30 >30 26 >30 9 >30 >30 >30 >30 >30 26 >30 14 29 9 9 >30 >30 13 10 >30 27 >30 9 19 >30 29 21 10 >30 12 DC More than 8 Disorders (32) [More than 30 Disorders (15)] 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) 7 Disorders (4) 6 Disorders (4) 5 Disorders (2) 4 Disorders (6) 3 Disorders (1)

17. Disorders Mandated in United StatesNovember 2004

18. Burden of the Core Panel Conditions in the U.S. • All conditions are rare • Over 4 million babies screened annually • Estimated annual number confirmed (most common) • Hearing loss: 5,064 • Primary congenital hypothyroidism: 2,156 • Sickle cell disease: 1,775 • Cystic fibrosis: 1,248 • Medium-chain acyl-CoA dehydrogenase deficiency: 239 • A totalof about 12,500 infants are diagnosed with the core conditionsandtreated each year in the US with the current newborn screening panel 18

19. Burden of the Core Panel Conditions in the US • Untreated persons suffer enormous burdens • Persons with phenylketonuria have relatively normal lifespan • Untreated: IQ that are under 20 • Identified and Treated: Normal IQ • Persons with medium-chain acyl-CoA dehydrogenase deficiency, the most common disorder of fatty acid oxidation, are at substantial risk for sudden death

20. IT’S NOT JUST THE TEST!

22. Management: • Treatment • Long-term follow-up • Specimen storage • Screening: • Sample collection • Sample submission • Laboratory testing • Evaluation: • Quality assurance • Outcome evaluation • Cost effectiveness • 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

23. Education • Management: • Treatment • Long-term follow-up • Specimen storage • Screening: • Sample collection • Sample submission • Laboratory testing • Evaluation: • Quality assurance • Outcome evaluation • Cost effectiveness • 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

24. Metabolic Team

25. SITUATION IN OTHER DEVELOPING COUNTRIES

26. ASIA PACIFIC NEWBORN SCREENING COLLABORATIVE • Two workshops - facilitate formation of the Asia Pacific Newborn Screening Collaborative. • The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region in Cebu, Philippines, on March 30–April 1, 2008. • The second workshop was held on June 4–5, 2010, in Manila, Philippines.

27. Workshop participants included • Key policy-makers, • Service providers, • Researchers, and • Consumer advocates From 11 countries with 50% or less newborn screening coverage.

30. BARRIERS IN COMMON • Lack of political awareness/will (Bangladesh, India, Pakistan, Indonesia, Mongolia, Sri Lanka) • Lack of physician awareness/ training and lack of subject specialists (Sri Lanka, Philippines, Pakistan, Mongolia, Indonesia, Bangladesh) • Lack of consistent source of funds (Bangladesh, India, Pakistan, Philippines, Sri Lanka, Vietnam) • Economic variations/inhibiting fee (Bangladesh, China, Indonesia, Pakistan, Philippines)

31. Lack of infrastructure/labs (Indonesia, Laos, Pakistan, Sri Lanka) • Logistic problems (Vietnam, Sri Lanka, Mongolia, Pakistan) • Competition with other health priorities ( mentioned by India only but likely to be a universal reality)

32. CONCLUSIONS ON REGIONAL STATUS • All 11 countries report progress despite significant barriers • Infrastructure exists though limited in scope (not national) • All programs include NBS for congenital hypothyroidism. • China – Approx half population has access to screening for CH, PKU. • Laws on mandated NBS exist in some countries only

33. THE PRESENT: WHERE DO WE STAND?

35. NBS: Challenges and future goals • Barriers • Govt support uncertain • Prohibitive NBS fee ($2.35?) • Universal lack of awareness • Very limited screening coverage • Lack of standardized procedures • No consensus on treatment /followup strategies • Subject experts lacking • High home births (65%) and consanguinity (60%) • Lack of dedicated screening laboratories

36. THE BURDEN OF UNTREATED DISEASE • CORE QUESTION: The cost burden of NBS and treatment versus The burden of untreated preventable conditions whose cost in terms of medical services provision and loss of human resource potential is difficult to estimate

37. OUR HEALTH PRIORITIES • Study: Setting Health Care Priorities in Pakistan. Khan KS. J Pak Med Assoc. 1995 Aug;45(8):222-7 OBJECTIVE: • To describe a health priority setting exercise in Pakistan and its relevance to traditional medical care and care providers. METHODS: • Literature search of local and regional data was performed to identify priority health problems, those with high disease burden and with cost-effective interventions.

38. RESULTS Major causes of ill-health were • Communicable ( Diarrhoea, ARI, childhood immunizable diseases, malaria, tuberculosis) • Pregnancy related diseases. • Factors that contributed to these disorders included • Malnutrition, • Anemia, • Poor sanitation and water supply, • Low level of education, • High fertility rates and • Poverty

39. For these conditions, cost-effective interventions for prevention included • Environmental control (provision of clean water and sanitation), • Education programmes, • Expanded programmeof immunization and • Family planning • For treatment included case management of diarrhoea, respiratory infections, tuberculosis and complications of pregnancy and childbirth.

40. CONCLUSION • Priority health problems include factors outside the domain of traditional medical care. • Their definition is important for directing policy reform, medical curricula and health research.

41. THE FUTURE OF NBS IN PAKISTAN:WAY FORWARD • Balance health priorities with need for NBS • Sustained (Decades) Awareness program targeted to health professionals, public and policy makers. • Start with one test (e.g. CH) but establish nation wide infrastructure which will serve as springboard for future expansion

42. THANK YOU

44. THE PRESENT: WHERE DO WE STAND?