Primary Care is the setting for 90% of all patient contacts and remains the ‘gateway’ – the first point of contact to the NHS for most people. However, for many, it may not be the start but a continuation of their journey into Genomics – for patients, for Primary Care Practitioners, and now for us as Joint Primary Care Leads for the North East and Yorkshire Genomic Medicine Service (NEY GMS).
Dr. Will Evans, NEY GMS Primary Care Lead
By the time patients present to Primary Care, they are likely to be continuing their experience of genomics, rather than just starting it, even if they don’t know it! For example, they may have had concerns about their family history for some time, raised by the diagnosis of a family member with a rare disease or gene variant that increases their risk of developing illness in the future, or they may have symptoms or clinical features which suggest an inherited condition. Some may already have a diagnosis or elevated risk and need advice about other aspects of clinical care such as family planning or medication.
Primary Care Practitioners continue to utilise their expert skills in communication, identifying patients who may benefit from onward referral and co-ordinating care throughout a patient’s life. By taking a detailed family history, we identify those who may have inherited conditions or an increased risk of common conditions such as cancer and may be eligible for genomic testing.
Primary Care Practitioners do not have or need an in-depth knowledge of genomics but can provide the appropriate care for their patients through accessing information at the point-of-need and applying the skills they already have. And can access support through ‘just-in-time’ genomic resources such as referral pathways and scenario-based learning via GeNotes.
Dr. Judith Hayward, NEY GMS Primary Care Lead
In NEY GMS, we have led innovative projects at the Primary Care interface and at regional and national level. We have piloted offering testing ‘closer to home’ through up-skilling Primary Care Pharmacists to offer testing for Familial Hypercholesterolaemia (FH) in the context of lipid management. We have also developed, led and supported national workstreams to provide education around FH for Primary Care Practitioners, Pharmacists, Paediatricians and all professionals who may deliver so-called ‘mainstream’ testing for FH.
We have also explored the possibility of searching Primary Care records for patient with symptoms which may suggest Rare Disease and for whom testing was simply not available at the time they were diagnosed. And finally, we have developed a template resource specifically aimed at Primary Care Practitioners to support them in care co-ordination for specified Rare Diseases including Neurofibromatosis Type 1.
So, what next in 2025 and beyond?
Having worked closely together for many years at regional and national level, our journey continues with Will Evans now taking on the role of NEY GMS Primary Care Lead. Throughout 2025, we’ll continue to support colleagues and ensure that the patient journey is as smooth and rapid as possible through Primary Care – using all the benefits that genomics brings. Watch this webinar for more examples of genomics in primary care.