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