Genomics in Primary Care
Genomics Education Programme: preparing the healthcare workforce to harness the power of genomic medicine
Health Education England’s Genomics Education Programme exists to deliver and advise on learning and development opportunities that prepare current and future NHS professionals to make the best use of genomics in their practice.
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.
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 your 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.
Learn more about Genomics
Visit the NHS Health Education England Genomics Education website for more details.