Genetics

Core Generalist#

Knowledge#

CG.K.1#

Identify scientific developments around genetics

CG.K.2#

Describe conditions that may have a genetic origin

CG.K.3#

Discuss the following conditions that have a genetic factor in their aetiology:

  • autosomal dominant polycystic kidney disease
  • cystic fibrosis
  • Down syndrome, and discuss pre-test counselling
  • familial cancer syndromes, including: BRCA1 and 2, hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, multiple endocrine neoplasia
  • Haemochromatosis
  • Inherited cardiac diseases, such as: brugada syndrome, hypertrophic cardiomyopathy, long QT syndrome
  • Inherited neurological syndromes, such as Huntington disease
  • Klinefelter syndrome
  • Marfan syndrome
  • Muscular dystrophies including Becker muscular dystrophy, Duchenne muscular dystrophy, myotonic dystrophy •
  • Neurofibromatosis type 1 (NF1)
  • Noonan syndrome (NS)
  • Turner syndrome
  • Haemophilia, thalassaemia, Mediterranean fever

CG.K.4#

Explain the ethical, legal and social implications of common genetic tests

CG.K.5#

Discuss precision medicine and its application in patient management

CG.K.6#

Describe the importance of ethnicity in determining risk of common inherited conditions

CG.K.7#

Illustrate how privacy laws can have an impact on communication about genetic conditions within families

CG.K.8#

Explain the clinical indications for ordering common genetic tests including those on the Medicare Benefits Schedule, and discuss pre-test counselling

CG.K.9#

Describe the role of genetic testing in the assessment of people with developmental delay, developmental disability and/or dysmorphic features

CG.K.10#

Describe the diagnosis and management of genetic conditions that may be managed in general practice

CG.K.11#

Identify ethical issues including the right of access to genetic risk by family members

CG.K.12#

Explain newborn screening and which conditions are included

CG.K.13#

Discuss the value and availability of pre-pregnancy counselling from a genetic perspective

Skills#

CG.S.1#

Undertake a three-generation family history to recognise patterns of inherited disease or disability

CG.S.2#

Apply screening guidelines for conditions

Attributes#

At.15#

Reflection

At.20#

Sensitivity

At.8#

Honesty

Last updated on by acrrmbot