- Introduction into the field of medical genetics as a “specialty” program with full residency program in the USA and Canada (American Board and Royal College of physicians and surgeons of Canada as well as other countries)
- Becoming familiar and able to construct a 3-4 generation family pedigree and knowing the various symbols and their implications.
- Learn to examine a patient with single or multiple congenital anomalies with or without mental retardation or developmental delay. Learn the implication of various minor anomalies when dealing with a dysmorphic child and being able to recognize features of a genetic syndrome.
- Learn the approach to the dysmorphic patient including clinical step wise approach combined with special testing and investigations.
- Becoming familiar with the workup in the newborn infant suspected with an acute metabolic disorder.
- Becoming familiar with the significance of newborn screening and the disorders that can be diagnosed as well as treated and their implication on the life of the child and family.
- Learning about various testing strategies in medical genetics including clinical and metabolic genetics. This testing includes chromosomal analysis, various FISH testing, SKY, Subtelomeric probes, microarray CGH as well as plasma and urine amino acids analysis, urine organic acids, and the various situations where the tandem MS can be used, urine for oligosaccharides and mucopolysaccharides, lysosomal enzymes in plasma and leucocytes and other testing strategies.
- Learn about the common hereditary cancer syndromes and when one should suspect and consider a cancer as familial versus hereditary. This includes family history, risk assessment, testing strategies, counseling, prevention as well as treatment modalities.
- Learn about common problems including chromosomal anomalies, single gene defects, multifactorial birth defects and multifactorial adult diseases.
- Learn how to provide simple counseling and become acquainted with common prevention strategies including premarital counseling, pre-conception counseling, pre-implantation diagnosis(PGD), prenatal diagnosis and others.
- Knowledge of the ethical, legal and psychosocial aspects of the practice of genetics.
- Learn about the spectrum of genetic disorders in a developing country with special characteristics. This demonstrates the specific pattern of disorders that are observed in urban areas as well as in an isolated population such as the Bedouin, with clear examples of genetic drift and founder effect.
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