Genetics & Genomics

Biology Class
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

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

  1. Obtaining and Preparation of biospecimens for genetic testing:

    1. Blood testing

    2. 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