Genomics in general practice

Last revised: 30 Nov 2018

The fields of genetics and genomics have developed rapidly in the past decade

Advances in genetics and genomics offer great potential for identifying patients at risk of disease and targeting treatment.  GPs need up-to-date knowledge and skills in this domain.

Genomics in general practice consists of short, practical summaries with key information that a GP might need to manage common genetic conditions and issues of testing in primary care. This resource is intended as a ‘guide’ rather than a ‘guideline’, with weighted recommendations for clinical decision-making.

Where appropriate clinical guidelines exist (they are recent and applicable to an Australian general practice context), they have been referenced in the text.

The most important information for GPs is listed at the beginning of each chapter under the heading ‘Practice point’. The issues considered in each chapter vary, but many include discussion of relevant tests and when GPs should refer to another health professional or genetics services.