What is genomics and why is it important?

Genetics usually refers to the study of single-gene disease, whereas Genomics refers to the study of the entirety of a person's DNA including genes and the DNA in between, known as the genome. Genomic Medicine is the application of Genomics to patient care.  The transformational 100,000 Genomics project sequenced 100,000 genomes, adding significantly to knowledge of cancer and rare disease, and providing more patients with a diagnosis. This was the first step towards establishing a Genomic Medicine service within the NHS and increasing the use of genomic information within routine NHS patient care in non-genomics specialties, known as 'mainstreaming'. The NHS Genomics Medicine Service was launched in 2018. 

There will be increasing provision of genomic testing within NHS routine clinical care and there is an increase in requests from the public for genomic testing via private, non-NHS, routes (direct-to-consumer testing). Increasing numbers of patients are likely to present to Primary Care, with either their or a family member's test result, and we in Primary Care will need to be able to identify those who are eligible and those who will benefit from genomic testing.

About this toolkit

The Genomics Toolkit has been developed in partnership with Health Education England Genomics Education Programme to support increasing understanding, raise awareness of Genomics Medicine and support primary care with increased knowledge of how genomics can contribute to improving patient care in a 'genomics era'.  It is a collection of resources that explain how Genomics Medicine can be incorporated in Primary Care, including training resources and audit suggestions, and providing links to relevant guidance and patient resources. The resources can be used as quick reference resources or as a package for CPD, to deliver awareness-raising and educational events, and in supporting trainees preparing for the MRCGP.

This toolkit is designed to be used by the entire clinical primary care team. The content development has been informed by the relevant RCGP Curriculum Statement, and on the findings from a Delphi survey conducted by HEE which identified knowledge, skills and attitudes in Genomics required by the primary care team.