Genetic Counseling and Prevention of Genetic Diseases in
- Slides: 24
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 § § § § 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 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
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 underst the bases of disease including ge 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 v v 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 v AID v Adoption v Prenatal diagnosis and termination pregnancy after 120 of conception v
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 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 • • Clinical testing vs. research testing National and international laboratories Consent for testing Availability of test results
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
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
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 UAE 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 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 • • Patient literature Support groups On-line resources National and international organizations
Primary Care Provider Genetics Professional Patient
- Primary prevention secondary prevention tertiary prevention
- What causes genetic diseases
- Medical genetics lecture
- Founder population
- Genetic programming vs genetic algorithm
- Genetic programming vs genetic algorithm
- Genetic drift
- Genetic drift vs genetic flow
- Modern lifestyle and hypokinetic diseases
- Is athlete's foot communicable or noncommunicable
- Section 19-3 diseases caused by bacteria and viruses
- Retention hyperkeratosis dermnet
- Chapter 6 musculoskeletal system diseases and disorders
- Chapter 24 sexually transmitted diseases and hiv/aids
- Chapter 22 genetics and genetically linked diseases
- Chapter 21 mental health diseases and disorders
- Chapter 17 reproductive system diseases and disorders
- Chapter 15 nervous system diseases and disorders
- What conditions do fungal organisms favor for growth
- Chapter 8 skin disorders and diseases
- In what situation should a nail service be performed
- Certain infectious and parasitic diseases
- Cardiovascular system diseases and disorders chapter 8
- Kronfeld mountain pass theory
- Milady chapter 8 skin disorders and diseases