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Core
Adult Internal Medicine Disciplines
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Core
Disciplines Sub-Menu
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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 ranscription, 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, non-directiveness,
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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