NEWBORN SCREENING IN PAKISTAN

When & How ?Col Zeeshan Ahmed

FCPS(Pediatrics),FCPS(Neonatology)Head Of NICU

Military Hospital Rwp.

CAN WE MAKE A DIFFERENCE?

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.”

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.”

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.

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.

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.

THE US EXPERIENCE

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

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

Disorders Included Under Current Mission

PKUPKU

19631963 19871987

Sickle Cell Disease

Sickle Cell Disease

Congenital Hypothyroidism

Congenital Hypothyroidism

Late 1970sLate

1970s

Cystic FibrosisCystic

Fibrosis

20032003

Tandem Mass Spec Disorders

Tandem Mass Spec Disorders

20042004 20??20??

??

Selection Criteria For ScreeningPanel

Availability of treatment Cost of treatment Efficacy of treatment Benefits of early intervention Benefits of early identification Acute management Simplicity of therapy

Incidence of conditions Identifiable at birth Burden of disease Mortality/ Morbidity

prevention

Availability of test Test characteristics Diagnostic confirmation

13

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

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

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

>30 26>30

>30

9>30

>30

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>30>30

26

40

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29

9

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19

12

9

10

21

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13 10

>30>30

27

DC

>30

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Disorders Mandated in United StatesNovember 2004

35(4)

22 (1)2

8 (4)

51 51 49 (2) 51

40 (1)37 (4)

35 (2) 34 (5)

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Optional or Pilot ( )

Mandated

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 total of about 12,500 infants are diagnosed with the core conditions and treated each year in the US with the current newborn screening panel

18

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

IT’S NOT JUST THE TEST!

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

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

Metabolic TeamChild Age-appropriate self-management skills

Parents Monitoring health status, teaching, advocacy

Nutritionist Nutrition therapy, feeding skills

Geneticist Medical monitoring

Social Worker Family support, counseling

Lab Laboratory monitoring

Medical Home Well child care, family support

Psychologist Developmental monitoring, counseling

PHN, others Family support in community

School Educational programs, treatment monitoring

Community Support of family and friends

Therapists (OT, PT, SLP, etc.)

Developmental monitoring, intervention

SITUATION IN OTHER DEVELOPING COUNTRIES

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.

• Workshop participants included – Key policy-makers, – Service providers, – Researchers, and – Consumer advocates

From 11 countries with 50% or less newborn screening coverage.

s. No. Country NBS INITIATED NATIONAL COVERAGE

DISORDER (s)

1. Bangladesh 1999 ≤ 5% CH

2. China 1981 59% CH, PKU

3. India 2007-8 70-86% (local) CH,CAH, G6PD DEF, CF, GAL, Various metabolic

4. Indonesia 2000 ≤ 1% CH

5. Laos 2008 7% CH

6. Mongolia 2000 6% CH,CAH

7. Pakistan 2007 ≤ 1% CH

8. Palau 2009 50% As per Phillipines panel

9. Philippines 1996 28% CH,CAH,GAL,PKU, G6PD Def

10. Sri Lanka 2005 2.8% CH

11. Vietnam 1998 7% CH,CAH, G6PD Def

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)

• 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)

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

THE PRESENT: WHERE DO WE STAND?

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

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

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.

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

• For these conditions, cost-effective interventions for prevention included– Environmental control (provision of clean water and

sanitation),– Education programmes,– Expanded programme of immunization and – Family planning

• For treatment included case management of diarrhoea, respiratory infections, tuberculosis and complications of pregnancy and childbirth.

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.

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

THANK YOU

THE PRESENT: WHERE DO WE STAND?