There are dramatic advances being made in the field of genomic medicine and these increasingly have an impact in primary care. As the gateway to the NHS, primary care practitioners are vital to the early identification of genomics issues and to ensuring appropriate management and quality of care – often throughout a person’s lifetime.

Watch this film to hear Dr Jude Hayward explain the increasing importance of genomics in primary care and the role practitioners play in the delivery of personalised medicine.

What do I need to know?

Why is genomics important in primary care?

Genomics plays a role in many conditions seen in primary care every day, including:

  • so-called ‘rare diseases’, which collectively affect 1-in-17 of the population; and
  • chronic (common complex) conditions, such as cancer and diabetes.

In addition, so-called direct-to-consumer testing – where people access genetic testing themselves online or via a local chemist – is becoming increasingly common. Primary care will often be the first port of call for people who have received results concerning themselves or their relatives and want to discuss them.

What is my role as a primary care practitioner?

Primary care practitioners should continue to use their core primary care skills in risk assessment, managing emotional consequences, holistic management and care co-ordination of the patient and their family when dealing with genomics issues or questions.

Think genomics. Know how to spot ‘red flags’:

  • Take a family history to identify and understand the risk of inherited genetic conditions and cancers.
  • Know how to recognise the early signs of rare disease in children, such as developmental delay.
  • Consider genomics where a patient has a surprising test result – such as unusually high cholesterol with no other explanation.

Know when and how to refer patients for specialist advice; know where to find up to date referral criteria.

Be aware of the spectrum of support available to patients; this may include support groups, patient groups and third sector and voluntary organisations, in addition to NHS care.

What resources are available to me?

Our programme has collaborated with the Royal College of General Practitioners to develop a new genomics toolkit for primary care practitioners. The toolkit provides useful information and signposts to lots of relevant resources and tools with the aim of aiding you in understanding more about genomics and incorporating it in your practice. The collection of assets includes training resources, a genomics phrasebook, and links to relevant guidance and patient resources.

Applications of genomic medicine in primary care


  • Some individuals carry gene variants that make them more susceptible to certain types of cancer. For example, a BRCA1 gene variant may mean someone has an 80% lifetime risk of developing breast cancer; familial adenomatous polyposis results in up to a 100% risk of developing bowel cancer.
  • Only 5%-10% of cancers are currently believed to be attributed to an underlying inherited cancer syndrome; most family histories therefore don’t put patients at increased risk. Taking a family history is important to rule this in or out.
  • Individuals may receive cancer treatments tailored to a genomic test result, for example Herceptin for HER2-positive breast cancer.
  • The number of people eligible for testing and/or increased screening due to a family history is growing all the time.

Rare, inherited conditions

  • There are thought to be more than 7,000 rare diseases, the majority of which are inherited. Signs are often seen in childhood.
  • Genomic testing plays a role in diagnosing rare diseases and in directing the management of the patient and their family.
  • Genomics, through genomic sequencing, is beginning to provide answers for increasing numbers of patients who previously had no diagnosis.
  • The number of people eligible for testing is increasing all the time.


  • It is estimated that only half of medications prescribed are effective; and adverse drug reactions have a significant impact on the NHS.
  • Pharmacogenomics – the application of genomics in prescribing – helps identify the right drugs for patients and predict whether a patient is likely to have a side-effect or adverse event as a result of medication.
  • An example of pharmacogenomics in primary care prescribing is the use of SCLO1B1 gene variants to predict those at higher risk of developing myopathy on simvastatin. As scientists learn more about the genomic factors at play in adverse drug reactions, pharmacogenomics is predicted to impact increasingly on primary care prescribing.

Case example: Genetic condition in the family

  1. A 37-year-old woman, Sally, comes to discuss family history of cancer: mother and grandmother had both died due to breast cancer.
  2. A family history is taken to assess Sally’s risk. According to criteria, her risk is above-population.
  3. Refer Sally to the breast clinic.
  4. While waiting for her first appointment, Sally contacts relatives and discovers that her cousin (maternal uncle’s daughter) has recently been diagnosed with ovarian cancer.
  5. In light of this information, the breast clinic refers Sally to the Genomic Medicine Centre for consideration for testing.
  6. Sally is then contacted by the Genomic Medicine Service to ask for further details regarding family history.
  7. Sally contacts her cousin, who had previously had testing and was found to carry a BRCA1 pathogenic variant. This had implications for cousin’s cancer treatment plan.
  8. Genomic Medicine Service explains to Sally that her uncle (father of her cousin) will need to be offered testing first, to establish whether he has the same BRCA1 variant.
  9. Sally is then offered testing and found to carry the same BRCA1 variant.
  10. Implications for screening, risk-reducing surgery, contraception and children are discussed with Sally.
  11. Sally’s sister, Emma, presents requesting referral for testing.
  12. Emma found not to be a carrier, meaning that, even in the presence of a significant family history, she could be reassured she was not at increased risk, and would not need screening until she was routinely invited to the NHS breast screen programme.
  13. Emma struggles with feelings of guilt due to not having to deal with the same issues and difficult decisions as her sister, alongside anxiety as she no longer is eligible for breast screening at an earlier age, and needs support from her GP in dealing with this.

Direct-to-consumer testing

Patients can now access genomic testing themselves via websites and high street shops, and may bring results to the primary care team. The test result may show an increased chance of developing a condition such as diabetes or cancer, or may reveal the patient is a carrier of a genetic variant for a rare condition, such as cystic fibrosis.

Results of ‘direct-to-consumer’ genomic tests are of varying reliability and validity, and patients should be managed in the same way as any other patient within the NHS: risk assessed via family history and managed and referred as per the usual NHS pathway.

A key role of the primary care practitioner is managing the emotional consequences of the genomic test result and providing guidance and reassurance as necessary; particularly if it is not deemed clinically actionable within the NHS.

The RCGP has released a position statement about direct-to-consumer testing which is available on their website.

Rare disease: the GP’s role

Explore the vital role that GPs play in supporting a genomic diagnosis

Learning opportunities

Teaching aids

Clinical resources

Identifying patients

Having a family history in a common condition, such as heart disease or diabetes, can be an important risk factor. For rare, inherited conditions, a genetic family tree can help to inform testing, surveillance, treatment and management strategies.

Activity: Taking and drawing a genetic family history

Equip yourself with the knowledge and skills to construct a genetic pedigree.

Activity: Recognising the clinical clues of a genetic condition

Familiarise yourself with the clinical features of a range of genetic conditions

Clinical management

Genomics plays a role in the management of a range of medical conditions. It is well established that the majority of rare diseases have a genetic basis, but genomic testing is also increasingly being used for patients with cancer and other conditions.

Activity: Support decision-making in a consultation

Equip yourself with the knowledge of a range of genetic conditions and the genomic tests available.

Activity: Signpost your patients to further support

Patient groups and charities can offer vital support and guidance for patients, both pre-and post-diagnosis.

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Last updated on 4th December, 2019