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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.
  • Delivery
    Title
    150242 - check, unit 557, Genetics, January-February 2019
    Location
    Duration
    3 hours
    Start Date
    03-Feb-2019
    End Date
    31-Dec-2019
    CPD
    3 hours
    Price
    0.00
    Location
    Online
    Contact Phone
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