182803 - check, unit 557, Genetics, January-February 2019
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.
D1. Communication skills and the patient-doctor relationship
Communication with family, carers and others involved in the care of the patient is appropriate and clear
D2. Applied professional knowledge and skills
The results of investigations are interpreted in the context of the patient
D3. Population health and the context of general practice
The patterns and prevalence of disease are incorporated into screening and management practices
D4. Professional and ethical role
D5. Organisational and legal dimensionsCurriculum Contextual Units
- Adult health
- Children and young people health
- Individuals with disabilities
- Pregnancy care
- Women's health