Genetics & Genomics
Basic Training
Trisomy, aneuploidy and chromosomal abnormalities
Genetic basis of Down syndrome, Turner syndrome, Klinefelter syndrome and other aneuploidy
Understand the different types of chromosomal abnormalities
Common genetic diseases
Epidemiology, clinical features and pathogenesis of common genetic diseases
Patterns of inheritance
Mendelian inheritance (single gene disorders)
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Common AD, AR and XR disorders
Trinucleotide repeats
Mitochondrial inheritance
Sporadic conditions
Genetic variants
Different types of mutations: nonsense, missense, frameshift
Understand loss-of-function and gain-of-function variants
Principle of population screening
Understand the WHO principle of effective screening
Understand the present screening programmes in infants and children
Basic principles of antenatal diagnosis
Understand the methods that can be used in antenatal diagnosis:
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Non-invasive prenatal diagnosis techniques
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Amniocentesis
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Chorionic villus sampling
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Preimplantation genetic diagnosis
Basic principles of genetic testing
Basic knowledge of genetic tests available for common genetic diseases
Desirable skills
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Obtaining and Preparation of biospecimens for genetic testing:
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Blood testing
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Buccal swab testing
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Higher Training
Cytogenetics
Understand the application of karyotyping, FISH and array comparative genomic hybridization, quantitative fluorescent polymerase chain reaction
Patterns of inheritance
Partial chromosomal deletions
Mosaicism
Imprinting disorders
Genetic counseling
Understand the need of pre-test consent and counseling
Understand the principle of disclosure
Next Generation Sequencing
Application of Gene panel testing
Application of whole exome sequencing
Application of whole genomic sequencing
Understand the implication of variants of unknown significance
Ethics
Understand the ethics of genetic testing, screening and counselling
Desirable skills
1. Basic Genetic Counselling skills
2. Obtaining consent for genetic tests