Genetic Counseling and Prevention of Genetic Diseases in Arab Countries

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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

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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

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

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Genetic Information

• The condition
• Gene(s) involved
• Inheritance pattern
• Availability of testing
• Prevention and available options

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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

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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

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Unacceptable practices

• Absolute contraception
• AID
• Adoption
• Prenatal diagnosis and termination pregnancy
  after 120 of conception

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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)

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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

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Genetic Testing

• Medical care
• Diagnostic
• Predictive with a treatment
• Personal decision-making
• Predictive without a treatment
• Carrier detection
• Pre-implantation or Prenatal diagnosis

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Genetic Testing

• Clinical testing vs. research testing
• National and international laboratories
• Consent for testing
• Availability of test results

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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

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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

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Ultrasound Scan(11-14 week scan)
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Pre-implantation Genetic DiagnosisNeed to know
the gene and common mutations
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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

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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

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Folic acid supplementation
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Resources

• Patient literature
• Support groups
• On-line resources
• National and international organizations

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Primary Care Provider
Genetics Professional
Patient