Genetics & Genomics

Draft proposed by Dr S P Wu
Reviewed by Dr S P Wu

Essential Skills View other syllabuses and domains

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.

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

 

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