Transcript Genetic Counseling

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
Prevention of Genetic Disease
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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:
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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
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…
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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
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Understands the language and culture
Genetic Information
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The condition
Gene(s) involved
Inheritance pattern
Availability of testing
Prevention and available options
Genetic Counseling
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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
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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
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
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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
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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
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
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Clinical testing vs. research
testing
National and international
laboratories
Consent for testing
Availability of test results
Examples of Genetic Testing in Arab
Countries
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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
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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
Ultrasound Scan
(11-14 week scan)
Pre-implantation Genetic Diagnosis
Need to know the gene and common mutations
Neonatal Screening in Arab countries
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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
Public Education
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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
Folic acid supplementation
Resources
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Patient literature
Support groups
On-line resources
National and
international
organizations
Primary Care
Provider
Genetics
Professional
Patient