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150242 - check, unit 557, Genetics, January-February 2019

  • : Online


This edition of check focuses on the assessment and management of genetic conditions in general practice.

Relevance to General Practice

Cystic fibrosis (CF), affecting approximately 1 in 3700 individuals, is the most common life-threatening genetic disorder in Australia. It is estimated that 1 in 25 Australians are carriers of a CF genetic variant. 
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, with the syndrome affecting one in 6000 females and one in 3600 males. Down syndrome is the most common cause of intellectual disability overall, with the current birth rate of babies with Down syndrome in Australia being 1 in 1100. 
In Australia there are over 45,000 cases of the dominantly inherited disorder familial hypercholesterolaemia (FH). Men with untreated FH have a >50% risk of coronary heart disease by the age of 50 years, and women have a >30% increased risk by the age of 60 years. While less common, Huntington’s disease affects 1 in 15,000 Australians, with a life expectancy of 15–20 years following the appearance of the first clinical symptoms. 
References on file.

Learning outcomes
  • Discuss the assessment and management of cystic fibrosis.
  • Outline the management of familial hypercholesterolaemia.
  • Summarise current recommendations for treatment of a patient who has Down syndrome.
  • Describe the approach to diagnosing fragile X syndrome.
  • Identify the signs and symptoms of Huntington’s disease.
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    150242 - check, unit 557, Genetics, January-February 2019
    3 hours
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