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

2. 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

3. 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 condition.
Adapted from the NSGC website

4. Prevention or at least amelioration of the effects of genetic disease or birth defect is the ultimate goal of genetic counseling

5. Who is a genetic counselor ?

6. Any Medical Professional understanding
the bases of disease including genetic bases
can provide genetic counseling

7. 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

8. Genetic Information The condition Gene(s) involved Inheritance pattern
Availability of testing
Prevention and available options

9. 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

10. 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 counseling
Neonatal screening and treatment

11. Unacceptable practices
Absolute contraception
AID
Adoption
Prenatal diagnosis and termination pregnancy after 120 of conception

12. 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; (2007)

13. 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 incorrect

14. Genetic Testing Diagnostic Predictive with a treatment
Medical care
Diagnostic
Predictive with a treatment
Personal decision-making
Predictive without a treatment
Carrier detection
Pre-implantation or Prenatal diagnosis

15. Genetic Testing Clinical testing vs. research testing
National and international laboratories
Consent for testing
Availability of test results

16. Examples of Genetic Testing in Arab Countries
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

17. Prenatal Diagnosis Ultrasound scan is the most common tool
Non-invasive MSS exists in few centers
Invasive CVS and amniocentesis exists in few centers
Problems related to the cut point of termination of pregnancy and to the definition of severe defects
Generally not widely practiced

18. Ultrasound Scan (11-14 week scan)

19. Pre-implantation Genetic Diagnosis Need to know the gene and common mutations

20. Neonatal Screening in Arab countries
Screening for Congenital hypothyroidism and PKU in Egypt, Saudi Arabia, Palestine, and UAE
Screening for PKU in UAE and Oman
Selective expanded Neo-born screening in Saudi Arabia
Expanded Neo-born screening in Qatar

21. Public Education Consanguinity and autosomal recessive disease
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

22. Folic acid supplementation

23. Resources Patient literature Support groups On-line resources
National and international organizations

24. Primary Care Provider
Genetics Professional
Patient