Genomics in general practice

About this resource

Last revised: 30 Nov 2018

Aim of the resource

Genomics in general practice is intended to be used as a point-of-care reference for GPs. It is designed to assist in clinical decision-making by presenting a snapshot view of the identification and diagnosis of a range of genetic conditions, and the use of genetic testing and technologies encountered in general practice. It is hoped Genomics in general practice will assist GPs to provide information on genetics and genomics to patients and their families, and refer to specialist services as required.

Development process

Genomics in general practice was developed in accordance with RACGP procedures.

Members of the Advisory Group reviewed Genetics in family medicine: The Australian handbook for general practitioners to determine the scope and purpose of the new publication.

A literature search was conducted for each topic, and relevant research papers and grey literature were identified.

Successive drafts of the resource were produced by the writer under the direction of the Advisory Group. Subject matter experts were consulted during this content-development phase. Where contention existed within the literature or among subject matter experts, the Advisory Group determined how to address this within the resource by consensus.

A broad range of GP and non-GP stakeholders were invited to review and provide feedback on a draft. Comments were considered by the Advisory Group and amendments made prior to publication.

A note on the title of the resource

The terms ‘genetic’ and ‘genomic’ are sometimes used interchangeably. The term genetic refers to the study of single genes, whereas genomic refers to the study of multiple genes. Traditional genetic testing involves the examination of individual genes that are known to cause or increase risk for a particular disease. The new field of genomic testing allows for the testing of a number of different genes at once, even a person’s entire genetic makeup (genome). As such, genomic testing can provide a wealth of information about a patient’s health, including predisposition to common conditions and response to particular drugs. The title for this resource, Genomics in general practice, reflects the possibilities inherent to genomic testing for the practice of medicine.


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.

For two of the topics where there have been significant developments in the past 10 years, ‘Pharmacogenomics’ and ‘Personal genomic testing’, more detailed information is presented alongside the summary.

This resource is intended as a ‘guide’ rather than a ‘guideline’ with weighted recommendations for clinical decision-making. Where appropriate clinical guidelines exist (ie 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. Where relevant, useful websites and other resources to access for further information for GPs and patients are listed at the end of the chapter.


Genomics in general practice is primarily intended for use by GPs and other primary care staff. Although it has not been designed for use by patients and consumers, this resource does contain some information for that audience.

The resource does not include a discussion of very rare genetic conditions that are unlikely to be encountered in general practice, or give comprehensive information about genetics services or use of the Medicare Benefits Schedule for billing purposes.