Transcript Newborn screening…aimed at the early identification of conditions

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
PKU
1963
Congenital
Hypothyroidism
Sickle Cell
Disease
Late
1970s
1987
Cystic
Fibrosis
2003
Tandem Mass Spec
Disorders
2004
?
20??
Selection Criteria For ScreeningPanel




13
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
Uniform Screening Panel
29 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
21
9
9
>30
>30
26
>30
26
>30
>30
>30 >30
9
>30
27
40
13
12
19
29
14
>30
9
>30
>30
>30
10
DC
29
>30
>30
10
>30
More than 8 Disorders (32)
[More than 30 Disorders (15)]
8 Disorders (2)
7 Disorders (4)
U.S. Newborn Screening
6 Disorders (4)
Mandated Disorders – Nov. 2004
5 Disorders (2)
(Note: Other disorders may be offered but are
not mandated and some mandated may yet not
be implemented)
4 Disorders (6)
3 Disorders (1)
sic
al
Ga
la
thy
ria
ism
nu
ro
id
eto
51
50
40 (1)
40
35 (2) 34 (5)
20
10
2
Mandated
2 (1)
Optional or Pilot ( )
MC
AD
D
51
HI
V
51
ct o
He
se
mi
mo
Co
a
gl o
ng
bi n
en
ita
op
lA
ath
dr
ies
en
a
lH
Ma
yp
ple
erp
Sy
las
ru
ia
pU
rin
eD
Bi
i se
oti
as
nid
e
as
eD
efi
cie
nc
Ho
y
mo
cy
sti
nu
ria
Cy
st i
cF
ibr
os
is
To
xo
pla
sm
os
G6
is
PD
De
f ic
ien
cy
Cl
as
ylk
Hy
po
Ph
en
Disorders Mandated in United States
November 2004
60
49 (2)
37 (4)
35(4)
30
8 (4)
2
0
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!
Management:
Screening:
• Treatment
• Sample collection
• Sample submission
• Laboratory testing
• Long-term follow-up
• Specimen storage
Evaluation:
• Quality assurance
• Outcome evaluation
• Cost effectiveness
Diagnosis:
• Subspecialist Assessment
• Results shared with family
• Counseling if necessary
Follow-up:
• Obtain test results
• Get results to family
• Repeat test(s) if needed
• Ensure diagnostic testing
Management:
Screening:
•Treatment
•Long-term follow-up
•Specimen storage
•Sample collection
•Sample submission
•Laboratory testing
Evaluation:
•Quality assurance
•Outcome evaluation
•Cost effectiveness
Education
Diagnosis:
•Subspecialist Assessment
•Results shared with family
•Counseling if necessary
Follow-up:
•Obtain test results
• Get results to family
•Repeat test(s) if needed
•Ensure diagnostic testing
Metabolic Team
Child
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?