prevention and care of genetic and congenital disorders, including preconception care
TRANSCRIPT
Prevention and care of Genetic and Congenital Disorders, including
Preconception Care
63rd Session of the WHO Regional Committee for the Eastern Mediterranean
3-6 OCTOBER 2016, Cairo
Outline• Background and rationale
• Magnitude of Congenital and Genetic Disorders (CGDs) in EMR
• Interventions to reduce the burden of CGDs in EMR
• Discussion on next steps
Background and rationale
Under-5 mortality rate decreased by 48% over the past decade
Neonatal mortality remains high and represents 46% of the under five deaths in the Region
In the EMR, congenital and genetic disorders (CGDs) cause over 25% of neonatal mortality
Consanguinity rate reaches 20%–50% in some countries of the EMR increasing the birth rates of autosomal recessive disorders
Regional Trend in Child & Newborn Mortality, 1990–2015
1990 2000 2010 2015020406080100120140160180200 181137
911056053 45 39 36
U5MR MDG target NMR
Source: Trends in Child Mortality: Estimates Developed by the UN Inter-agency Group for Child Mortality Estimation-Report 2015
Congenital disorders (birth defects)
“Any potential pathological conditions arising before birth –
whether evident at birth or manifesting later in life” (WHO)
Two main groups – environmental and “constitutional” congenital disorders
Total congenital disorders, births /1,000 if no intervention (baseline birth prevalence) by WHO Regions
The baseline birth prevalence of chromosomal disorders, congenital malformations and baseline single gene disorders is similar in all regions. EMR has the highest rate for consanguinity associated disorders. B Modell ,2016
AFRAMR
EMREUR
SEARW
PRW
orld
W Euro
pe0
10
20
30
40
50
60
70Environmental
G6PD defic NNJ
Rhesus haem disease
Consanguinity-associated
Sickle cell
Thalassaemia
Baseline single gene
Congenital malformations
Sex chromosomes
Down etc
Affec
ted
birt
hs /1
,000
Total congenital disorders, births /1,000 with no interventions (baseline birth prevalence)
The Gulf States provide an EMR reference Region with near-equitable access to all available services, for comparison with Western Europe
Promoting Preconception Care (PCC) in EMR.2015-2016
-Reviewed PCC health needs -Updated evidence-based interventions
-Identified priority actions
-Defined PCC Regional core interventions based on evidence -Defined programmatic steps
-Agreed on PCC Regional core package & programmatic steps with partners
-Defined collaborative mechanisms
-Reviewed CGDs magnitude-Agreed on priority CDGs interventions-Proposed requirements for prevention and care
March 2015
July 2016
February 2016
September 2015
Stages of prevention and care of genetic and congenital disorders, including preconception care
Conception and Pregnancy
Childbirth care
Packages of Prevention and Care
Pregnancy stages Live birth
Pre-pregnancyinterventions
Prenatalinterventions
Pre-Conception
Criteria for Interventions
• Evidence-based, high-impact interventions• Cost-effective• Feasible to implement• Sustainable • Acceptable and culturally sensitive
Interventions to reduce burden of CGDs at the preconception/premarital stage
Supplementation and fortification
folate, iron
Immunization Rubella,
hepatitis B
Screening for carriers of common
autosomal recessive disorders
Screening and treatment of
infections syphilis,
toxoplasmosis and HIV/AIDS
Screening , diagnosis and
optimal management of
diabetes
Blood grouping including Rh
Genetic family history &
referral of high risk families
Healthy life style, cessation
of smoking
Interventions to reduce burden of CGDs during pregnancy
Management of maternal
conditions including diabetes
Treatment of infections
Avoidance of teratogens
(toxoplasmosis)
Avoidance of tobacco and
prevention of environmental
pollution
Prenatal screening by maternal serum
markers and by ultra sound
Fetal Care such as Rh
incompatibility
Supplement with iron
Supplement with folate
Estimated effect of Rubella immunisation in the EMR
Gulf States
N Afr /M East
South Asia
East Africa
EMR total
0.0
0.1
0.2
0.3
0.4
0.5
0.6
Rubella prevented /1,000
Preventable Rubella /1,000
Rate
/1,0
00 b
irths
Rubella usually occurs in epidemics at around 10-11 year intervalsAn average annual estimate is used in this graph
Estimated effect of folic acid flour fortification in the EMR
Gulf States
N Afr /M East
South Asia
East Africa
EMR total
0.0
0.5
1.0
1.5
2.0
2.5
3.0
3.5
4.0
Malformations actually prevented /1,000
Preventable malfor-mations /1,000Ra
te /
1,00
0 bi
rths
In addition to neural tube defects, folic acid flour fortification prevents some oro-facial clefts and congenital heart disease
Conclusion Newborn death is almost 50% the death of children
under the age of five in EMR Congenital disorders constitute 25% of total newborn
death Evidence-based, high impact interventions contribute to
high reduction of the burden of CGDs Disability remains a challenge and will increase with
improved survival Targeted policies and strategies are needed
Future steps
Update epidemiological status of CGDs at country and Regional levels
Establish a national committee for prevention and management of CGDs
Develop necessary policies and strategies to respond to CGDs
Prioritize evidence-based, high impact and cost-effective interventions
Strengthen measurement and surveillance tools in line with SDGs targets
Pillars for introducing and strengthening the interventions targeting CGDs
Increasing public awareness and
literacy
Surveillance and registries for GCDS
Genetic centers /laboratory for
diagnosisManagement
Preconception care
Commitment of policy makers
Basic Pillars
Integration into Primary health
care
Training and education of health care providers
Population screening programs
THANK YOU