Core Adult Internal Medicine Disciplines

Clinical Genetics

Topics

• Ability to collect and record pedigree information.
  
• Understanding of genetic segregation analysis, including methods and interpretation of linkage analysis. Application to autosomal dominant and recessive, sex linked, multifactorial and mitochondrial inheritance.
  
• Statistical approaches to risk interpretation. Explanation of inheritance patterns and calculated or empiric risk figures to families.
  
• Basic molecular and biochemical genetics, including understanding of the mechanism and applications of Southern blotting, Northern blotting, polymerase chain reaction, reverse transcription, allele-specific hybridisation, DNA sequencing, DNA polymorphism analysis. Major pathways involved in energy and nitrogen metabolism.
  
• Basic understanding of the definitions and underlying processes for heterozygosity, homozygosity, polymorphism vs mutation, genetic heterogeneity, allelic heterogeneity, phenocopies, variable expressivity, age-specific penetrance, new mutation, germ-line versus somatic mosaicism, variable penetrance, genomic imprinting, triplet repeat diseases, anticipation, epigenetic factors, somatic mutation, multifactorial inheritance, genetic control of continuous variables like height, blood pressure, intelligence.
  
• Teratology and developmental genetics:
  
  • Knowledge of local teratogen information services.
    
  • Ability to identify individual with a personal or family history of physical or psychomotor developmental abnormalities for which genetic assessment would be appropriate.
    
  • Knowledge of local genetic services and patient support groups for major genetic conditions including Huntington disease.
• Cytogenetics: Trisomy, monosomy, aneuploidy, deletion, inversion, duplication, reciprocal and Robertsonian translocation, fluorescent in situ hybridisation.
  
• Cancer genetics:
  
  • Genetic mechanisms involved in acquired and inherited cancer.
    
  • When to refer for a family history of cancer.
• Common adult onset or late onset conditions for which pre-symptomatic or predictive testing is available.
  
• Community genetics including principles and practice of screening.
  
• Pharmacogenetics: Pseudocholinesterase deficiency, acetylator activity, malignant hyperthermia, porphyrias, glucose-6-phosphate dehydrogenase deficiency, special anaesthetic problems encountered in myotonic dystrophy, muscular dystrophies.
  
• Awareness of the need for genetic counselling to involve families in addition to the referred patient.
  
• Knowledge of historical and current ethical and moral debates relating to genetic testing and research. Informed consent for genetic testing. Importance of privacy, autonomy, benificence, avoidance of harm, nondirectiveness, confidentiality of results and records.

Practical Skills for all Trainees

The use of genetic databases such as Online Mendelian Inheritance in Man to obtain current information about diagnosis and DNA analysis for known genetic conditions.

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