Primary care professionals are often the first point of contact with patients in the healthcare system, in roles such as general practice and community nursing.


As such, primary care professionals are vital to the early identification of conditions that can be diagnosed by a genomic test, and in supporting patients who have received a positive diagnosis to treat and manage their condition on an ongoing basis – sometimes for their whole life.

Genomics plays a role in numerous conditions seen within a primary care setting including ‘rare diseases’ which can actually affect 1 in 17 of the UK population, and chronic conditions such as diabetes and cancer.

Key takeaways

  • Have a conversation with patients about family history – this remains the best way to identify those who may benefit from referral for a genomic test
  • Rare diseases are collectively common (1 in 17) and share management principles
  • Family history is also key in identifying couples who may have an increased likelihood of having a child with an inherited condition

How does genomic medicine impact my role?

For primary care professionals, the key opportunity to make use of genomic medicine is to identify patients who could potentially benefit from genetic testing, and support and facilitate onward referral.

Often, this can start with a conversation about family history. Such a conversation remains the main tool in assessing the risk of a genetic condition, and deciding whether onward referral to determine eligibility for testing is required.

For example, a family history of premature CVD may suggest Familial Hypercholesterolaemia; a family history of breast cancer may indicate a need for referral to the breast unit; or a family history of a known gene variant (e.g. BRCA1) merits onward referral to Clinical Genetics.

More specifically, if patients present in early pregnancy with a family history of a genetic condition or they may be at risk for other reasons (e.g. ethnic groups in which Haemoglobinopathies are more prevalent) you should seek advice urgently from your local clinical genetics team in order to maximise reproductive choices.

Alongside this, primary care professionals are well-placed to recognise potential red flags for rare disease and to provide holistic care for these patients.

Why is a conversation about testing beneficial for patients and their families?

An open conversation with a patient about their symptoms or family history helps empower them, by giving them greater information and understanding about what it could mean for their health and how a genomic test could be useful.

A successful conversation can therefore reduce the length of time to diagnosis for a rare disease, and provide a patient with certainty sooner. It also means they can more quickly access additional screening, risk-lowering measures or information to address the risk of specific cancers.

And if a condition is discovered, it then means advice can be given to other family members who may be at risk.

When might you make a referral for a test?

  • When a family history suggests a potential inherited condition (e.g. Familial Hypercholesterolaemia, increased risk of specific cancers, gene variant e.g. BRCA1)
  • If you notice any ‘red flags’ for rare disease, such as unusual, extreme or early presentations, multiple symptomatology, Learning Disability with other medical problems such as epilepsy in teens / young adulthood.
  • When a couple might have an increased likelihood of having a child with a genetic condition as a result of family history or ethnicity.

What training is available?

If you are new to genomics, you can access general resources here.  You can also find a range of specific training and information for primary care professionals below.

This collection of training resources from the RCGP includes short webinars (including Familial Cancer, Rare Disease, Ethics and prenatal testing), podcasts, videoclips and infographics which can be used either for CPD or for teaching purposes.

Learn more here

This umbrella organisation for all Rare Disease provides a wealth of information for patients and professionals.

Learn more here

This set of resources from Health Education England’s Genomics Education Programme are designed to help primary care professionals to identify where patients may have FH and support improved care and increased detection rates.

Learn more here

How can I learn more?

Contact us to learn more

[email protected]

Our team:

Judith Hayward, GP and NEY GMSA Primary Care Lead