Ghada El-Kamah Professor Clinical Genetics

Human Genetics & Genome Research division National Research Centre, Cairo, Egypt

Genetic Services in Egypt: situation and perspectives

جمهورية مصر العربية Arab Republic of Egypt

Alexandria Its location makes this city one of the most important trading centers in the world. 3,811,516

Cairo The largest city in Egypt is also the 15th largest metropolitan area in the world. 7,734,614

Al Jizah This city is home to some of the world's most well-known landmarks including the Great Pyramid of Giza and the Great Sphinx. 2,443,203

Three over 1 million cities

Egyptian Demographic notes (CAMPAS, 2008)

• Total population size

• 1990 : 51.900 millions Rural 56.6 % Urban 43.4 %

• 2007 : 73.608 millions Rural 56.9 % Urban 43.1 %

• 2012 : 85 millions

• Number of live births 2.6 million per year.*

• Infant Mortality Rate :

• 1967 : Neonatal 67 Infant 146 Under 5 years 238

• 1990 : Neonatal 33 Infant 62 Under 5 years 85

• 2001 : Neonatal 19 Infant 33 Under 5 years 39

• 2006 : Neonatal 16 Infant 25 Under 5 years 28

Consanguineous marriage in Egypt

Ranges from 28% to 42%

Mostly 1st and 2nd cousin marriage

Urban 18% Rural 23%

Congenital anomalies

1.16% to 3.17%

Multiple genetic disorders

in the same individual or sibship with increase consanguinity rate of 77.8%

Genetic Services health measures implemented to help people

with a genetic disadvantage and their families to

live and reproduce as normally as possible - Services which target whole populations with a view to identifying those at increased risk - Services which focus on the needs of families which are affected by a genetic disorder or who perceive themselves to be at increased risk

Genetic services in Egypt

Prenatal genetic diagnosis

New-born screening

Carrier testing

Diagnostic testing

Molecular testing

Predictive testing

Genetic counselling

Genetic Services Centers

National Research Centre (National Research Centre (8 8 departments)departments)

Cairo University Pediatrics HospitalCairo University Pediatrics Hospital

AinAin Shams UniversityShams University

Alexandria UniversityAlexandria University

Mansoura UniversityMansoura University

Tanta UniversityTanta University

Ministry of Health Ministry of Health GoverneratesGovernerates (12 Clinics)(12 Clinics)

Genetic centres in Egypt

Our previous 35 years experience in the field of Clinical Genetics and the descriptive review of field study have allowed us to establish a very good percentage of specific diagnoses, to identify new syndromes, and to recognize some very rare anomalies.

Provide the necessary tools of genetic research to characterize common genetic diseases in our community, and identify their responsible mutations, and finally study the etiology, pathogenesis and treatment

Newborn Screening of Congenital Hypothyroidism

Newborn Hearing Screening

Newborn Metabolic Screening : PKU

Newborn Screening of ; some Endocrine disorders

Newborn Screening for Hemoglobinopathies

Birth Defects Registry

At-Risk Screening

Neonatal services available for individuals and families in Egypt

Other services

Clinical Level -General Clinics -Specialized Clinics 3 Neurogenetics Microcephaly and brain malformations Neurodegenerative Musculo-skeletal disorders Skeletal disorders Endocrinological genetics Herediatry Blood Disorders Genodermatoses Stimulation clinics Evaluation IQ (F/M) Stimulation Speech Autism QOL

Diagnostic services

Cytogenetics G-banding DEB FISH CGH

Molecular genetics Strip assay PCR Sequencing MLPA NGS

Biochemical Genetics Abnormal metabolite detection Enzyme assay Proteomic studies Suspected mitochondrial disorders

Therapeutic services

Routine

- Pharmacological

- Nutritional

- Enzyme replacement

- OI

Stimulation & psychological services

Stem cell team

Faced Issues In Developing Countries of the Middle East

Economic issues

Religious issues

technical issues

Awareness issues

Security issues

Consanguineous marriage issues

Inadequate genetic services issues

Inadequate genetic programs issues

- Increase interest in clinical genetics among health professionals through increasing the physicians awareness of the problem and increase their skills in detecting and diagnosing genetic disorders through training courses Theoretical Practical - Facilitate detecting patients with genetic diseases, to help them to cope with their genetic disorders and to lead as normal life as possible

Our Role in Integrating Genetics into Mainstream Clinical Practice

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Distribution of all referred cases according to relative frequency

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Frequency of Consanguinity among Selected Cases

Genetic Counselling

Neurologic Disorders

Genetic Disorders

Mental & Behavioural Disorders

Metabolic Disorders

Growth Disorders

Neuromuscular Disorders

Chromosomal Disorders

Endocrinologic Disorders

Skeletal Disorders

Environmental Etiology

Deafness

Hematological Disorders

Ophthalmological Disorders

Dermatological Disorders

Primary Infertility with Normal Karyotype Cardiovascular Disorders

Renal Disorders

The patient has hetero deletion of (A) in intron 11 Of gene EDAR (c.1024+15delA)

(EDA) X-linked (c.706+23delG)

The exact size of the problem of genetic diseases is not known because of lack of epidemiological population based studies

Several case reports and hospital based studies indicating an increasing number of genetic diseases, some of which were described first in Egyptians or Arab populations

The large family size and high rate of consanguinity make the Arab people unique from the point of view of genetic analysis

Since these diseases are chronic in nature, they impose a heavy medical, financial and emotional burden; hence the urgent need for effective control and prevention strategies

Facing These Challenges we are aiming at

More efficient clinical genetics infrastructure

Increase Primary Care Genetic Services

Changing attitudes towards premarital testing

Patient and provider education

Finding out the relative frequent genetic diseases among the examined Egyptian patients will help in prevention of these diseases.

Arab nations spend more than $30 billion every year on patients suffering from hereditary diseases …" and that the occurrence of hereditary diseases is also growing each year

All these ambitious goals can be achieved if geneticists decide to work together for a common endeavor,