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3 02 Genetics in Primary Care

Key messages

  • It has been estimated that at least one in ten of the patients seen in primary care has a disorder with a genetic component
  • There are three main themes of genetics in primary care: identifying patients with, or at risk of,  a genetic condition; clinical management of genetic conditions; communicating genetic information
  • Taking and considering a genetic family history is a key skill in identifying families with Mendelian disorders and clusters of common conditions such as cancer, cardiovascular disease and diabetes
  • General practitioners (GPs) have a key role in identifying patients and families who would benefit from being referred to appropriate specialist genetic services
  • General practice plays a key part in discussing results from the antenatal and newborn screening programmes which are identifying carriers and people affected with genetic conditions
  • Information about genetic susceptibility in common conditions (currently being gathered through research studies) is likely to offer additional information about risk factors to aid management
  • Genomic information is currently being utilised in the stratified use of certain medicines

Knowledge and skills guide

This section contains the learning outcomes for the 'Genetics in Primary Care' curriculum module.

These are grouped into 12 core areas of competence concerned with the tasks you will undertake as a general practitioner when delivering care to people in your community.

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Case discussion

This section contains a scenario and questions for reflection which help to illustrate the learning points in this module.


Adrian, a healthy 44 year old man, is concerned about developing cancer because his father was diagnosed with bowel cancer at the age of 45, and died at the age of 48. As this seemed a very early age for Adrian’s father to have cancer, the general practitioner asked if anyone else in the family had cancer...     

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How to learn this area of practice

This section includes suggested activities and strategies for developing the competences you will require.      

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Useful learning resources

This section provides suggestions for further reading and other resources to help you in your training, including books, journal articles and web resources.     

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