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- 33rd AGM & 2024 ASM
Genetics & Genomics
Draft proposed by Dr S P Wu
Reviewed by Dr S P Wu
Essential Skills
Domain 1 - Professional Values & Behaviour
Domain 2 - Communication
Domain 4 - Patient management
Additional desirable skills are listed in each proposal. These recommended skills are to be acquired as opportunity arises.
Download Syllabus (28 November 2023)
VIEW another syllabus
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)
- 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:
- Non-invasive prenatal diagnosis techniques
- Amniocentesis
- Chorionic villus sampling
- Preimplantation genetic diagnosis
Basic principles of genetic testing
Basic knowledge of genetic tests available for common genetic diseases.
Desirable skills
Obtaining and Preparation of biospecimens for genetic testing:
- Blood testing
- Buccal swab testing
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
