Sunteți pe pagina 1din 24

Genetic Counseling and

Prevention of Genetic
Diseases in Arab Countries
Ahmad Teebi, M.D.
Professor of Pediatrics and Genetic
Weill Cornell Medical College in Qatar
Prevention of Genetic Disease

 Genetic counseling
 Genetic screening and testing
 Premarital counseling
 Pre-implantation genetic diagnosis
 Prenatal diagnosis and selective abortion
 Neonatal screening
 Treatment of genetic disease
 Education
Genetic Counseling…is a communication process
which deals with problems associated with the
occurrence or the risk of recurrence of a birth defect or a
genetic disease in a family

…is the process of helping people understand and adapt to the medical,
psychological and familial implications of genetic contributions to disease.
This process integrates:

• Collection and interpretation of family and medical histories to assess the

chance of disease occurrence or recurrence
• Education about inheritance, testing, management, prevention, resources
and research
• Counseling to promote informed choices and adaptation to the risk or

Adapted from the NSGC website

Prevention or at least amelioration of the
effects of genetic disease or birth defect is
the ultimate goal of genetic counseling
Who is a genetic
counselor ?
Any Medical Professional understanding
the bases of disease including genetic bases
can provide genetic counseling
Genetic Counselors are…

• Medical professionals trained through a

specialty Masters degree.
• Trained through a variety of clinical
rotations in all genetic areas: Prenatal,
dysmorphology, metabolic, neuromuscular, immunology,
oncology, teratology, molecular and cytogenetics
• Understands the language and culture
Genetic Information

• The condition
• Gene(s) involved
• Inheritance pattern
• Availability of testing
• Prevention and available options
Genetic Counseling
• Supportive
• Non-Directive
• Non-Judgmental
• Allow families to make decisions based
on their own personal, cultural, ethical
and social beliefs
• Emphasize the fact that there is
nothing that they have done that
caused the fetal abnormalities
Acceptable Options
 Pre-implantation genetic diagnosis
 Early prenatal diagnosis and termination of
pregnancy(up to 120 days from conception)
 Genetic screening and genetic testing with
effective premarital and pre-conception
 Neonatal screening and treatment
Unacceptable practices
 Absolute contraception

 Adoption

 Prenatal diagnosis and termination

pregnancy after 120 of conception
Framework for Prevention of Genetic
Diseases in Arab and Muslim Countries
• Data From “ Genetic Disorders Among
Arab Populations” Teebi & Farag (1997)
and Teebi (2009)
• IRB in various institutions and countries
• Public Policies in Various Countries
• Commentary: Nature Genetics 39;
1293-1298 (2007)
Response to Counseling
• Varies depending on the individual or
family understanding of information,
severity of the condition and availability
of preventive measures, emotional
background, ethnic origin, cultural and,
religious factors
• Generalizations are difficult and likely
Genetic Testing

• Medical care
◦ Diagnostic
◦ Predictive with a treatment

• Personal decision-making
◦ Predictive without a treatment
◦ Carrier detection
◦ Pre-implantation or Prenatal diagnosis
Genetic Testing

• Clinical testing vs. research

• National and international
• Consent for testing
• Availability of test results
Examples of Genetic Testing in Arab
• Testing for sickle cell trait in Bahrain
• Testing for thal trait in some Mediterranean
countries and Saudi Arabia
• Testing for thal and sickle cell traits in Kuwait
• Testing for homocystinuria, SMA, CF, sickle
cell and thal traits in Qatar
Prenatal Diagnosis
• Ultrasound scan is the most common tool
• Non-invasive MSS exists in few centers
• Invasive CVS and amniocentesis exists in few
• Problems related to the cut point of
termination of pregnancy and to the definition
of severe defects
• Generally not widely practiced
Ultrasound Scan
(11-14 week scan)
Pre-implantation Genetic Diagnosis
Need to know the gene and common mutations
Neonatal Screening in Arab countries

• Screening for Congenital hypothyroidism and

PKU in Egypt, Saudi Arabia, Palestine, and
• Screening for PKU in UAE and Oman
• Selective expanded Neo-born screening in
Saudi Arabia
• Expanded Neo-born screening in Qatar
Public Education
• Consanguinity and autosomal recessive
• Healthy food and Folic acid supplementation
before and during pregnancy
• Effect of smoking during pregnancy(including
passive smoking) on birth defects
• Promoting measures to prevent or reduce the
burden of genetic disease and birth defects
• General health education
Folic acid supplementation

• Patient literature
• Support groups
• On-line resources
• National and
Primary Care