The role of the primary care in genomic medicineDoctor with nervous female patient.png

Momentum across the NHS is driving the integration of genomics into clinical care. The term 'Genomic Medicine' is increasingly used in health services. Whilst genetics focuses on the DNA coding for single functional genes, genomics is the study of the entirety of an individual’s DNA, recognising the role of non-protein-coding DNA and the complex interactions between multiple genes and the environment.

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 involves using genomic information about an individual as part of their clinical care (for example, for diagnostic or therapeutic decision-making). The term encompasses both genetics and genomics.

Advances in genetic technology and understanding, coupled with an increasing patient demand for genetic and genomic investigation, is driving this. The primary care workforce including General Practitioners (GPs) needs to feel supported and empowered to identify opportunities for genomic medicine and feel confident in their skills to deliver personalised care effectively and compassionately; supported to understand genomics and communicate effectively, support their patients and institute appropriate management.

We produce regular newsletters for GPs and primary care colleagues, available to download from our newsletters page.  

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Identifying rare disease

GPs are in a unique position, providing patient and family care including continuity of clinical records over many years and generations; managing diagnostic uncertainty, and considering diagnoses that may only happen a handful of times during years of practice e.g., meningococcal sepsis and certain cancers.


Patients with a rare disease will seek an empowering and collaborative approach with their clinicians, challenging the traditional patient-doctor relationship.


‘Rare Disease: The GPs Role’ is a video produced by Health Education England’s Genomics Education Programme.


Advances in technology can now make human and pathogen DNA sequencing speedy and affordable, which may be used in the diagnosis and tailored management of a range of conditions from cancer to tuberculosis, and in tailored prescribing decisions. The term 'Precision Medicine' describes the use of genomic information alongside other individual and environmental factors to refine disease prediction, prevention, and treatment.


Information about genetic susceptibility to common complex conditions (conditions with a multi-factorial inheritance pattern, such as ischaemic heart disease and cancer) is likely to offer additional information about risk, which will aid stratification into risk categories or disease sub-types and inform clinical management. Such clinical advances have implications for service planning i.e., how genomic information can contribute to managing common complex conditions, how medical management may be personalised through the stratified use of medicines (pharmacogenomics),resources, and the ethics of obtaining, storing, sharing, and using genomic information.

  • National Genomic Test Directory; The National Genomic Test Directory outlines the full range of genomic tests available and funded by NHS across England. The directory also sets out which patients are eligible to access a specific test or tests.
  • The British Society for Genetic Medicine website contains links to Regional Genetics Centres (RCGs), which often have information on referral pathways and criteria. As many common conditions seen in general practice – including cancer, diabetes, and heart disease – are multifactorial with a genetic component, managing them can also help develop an awareness of how genomics affects disease.  You can find an e-Learning module(s) relevant to this Topic Guide at e-Learning for Healthcare.
  • Welcome to GatewayC: GatewayC has been developed specifically to support those working in primary care to improve cancer outcomes. Each course has been developed in collaboration with patients, GPs, and cancer specialists, and produced in partnership with Cancer Research UK (CRUK).  Each module carries RCGP accreditation for CPD. NICE accreditation is being sought.
  • RCGP Genomics toolkit/ Genomics Education Programme’s Genomics Toolkit and other resources: The Genomics Toolkit has been developed is designed to be used by the entire clinical practice care team.  Produced in partnership with Health Education England (HEE) Genomics Education Programme, it supports increased understanding, raised awareness of Genomics Medicine, and supports primary care with increased knowledge of how genomics can contribute to improving patient care in a 'genomics era'. The content development has been informed by the relevant RCGP Curriculum Statement, and on the findings from a Delphi survey conducted by HEE.


Following the British Society of Haematology Guidelines each training session provide in-depth coverage of genetic haemochromatosis (GH). With over 380,000 people now affected by GH in the UK, and the condition being greatly undiagnosed (80-90%) the training is a must for clinicians working in any part of the UK. GH treatment is simple, clinically-effective and cheap. Left untreated, people with GH can experience liver disease, cancers, heart problems, diabetes, chronic fatigue and acute joint pain.

Their primary care training includes the following topics:

  • An introduction to GH, including the latest prevalence statistics
  • The key gene mutations that lead to GH  
  • How to identify early, classic and late-stage GH symptoms in patients
  • The impact of later symptoms in regards to patients and NHS resources
  • How to support the GH patient care pathways and when to refer to secondary care
  • The ongoing management and treatment for a patient with GH
  • When family screening and genetic counselling should be performed.