Significant advances have been and continue to be made within genomic medicine which has a direct impact on primary care providers; the first point of contact for patients in the healthcare system i.e., general practice, community nursing, pharmacy, dental, and eye health services.
Genomics plays a role in numerous conditions seen within a primary care setting including ‘rare diseases’ which affect 1-in-17 of the population, and chronic conditions such as diabetes and cancer. As the gateway or ‘front door’ of the NHS, primary care practitioners and healthcare professionals are vital to the early identification of genomics-related issues and to ensure appropriate management and quality of patient care, which can often be for a lifetime.
As the largest profession in the global health workforce, and by the nature of their profession, nurses have a pivotal role to play in the use of genomics for the benefit of patient care, including its adoption within clinical practice and day-to-day patient care.
Nurses and midwives spend a lot of time with patients and these valuable conversations have an important role in identifying when the patient and family would benefit from a referral to a genomics service. These interactions also provide the opportunity to have a conversation to reveal family history, where conditions re-occur across generations of the same family, as well as access to testing and subsequent diagnosis and treatment. The same also applies to health visitors who are uniquely placed to build close relationships with their patients and their families.
Genomics can make a real difference to midwifery practice, supporting the prediction of potential situations at each stage of pregnancy.
Parents who have a known medical or genetic condition are considered ‘high risk’ so having an enhanced or heightened appreciation of the potential risks associated with labour and delivery is advantageous.
From taking a family history, making a referral to specialist advice, or initiating specific tests, genomics plays a vital role in protecting parents and their babies, via diagnosis and care management across midwifery clinical practice and specialisms.
Genomics is included in the Nursing and Midwifery Council's standards of proficiency and is a key element in clinical practice.
Technological advances in genetics, married with increased understanding and patient demand for genetic and genomic investigation have led to pathologists and those working in pathology needing support to identify the scope for genomic medicine within their clinical practice.
How disease is influenced by environmental versus genetic factors varies from disease to disease so making an informed decision when to apply genomic testing and how to interpret results following diagnosis are fundamental to enhanced diagnosis and patient care.
Advances in genomics are also shaping the field of histopathology in several ways. In cancer, genomics is enabling more precise diagnosis, treatment, and risk prediction. The work of the histopathologist now regularly includes integrating both morphological and genomic information to inform clinical decisions. Genomics is also enabling progress in terms of better sub-typing of cancers and the development of targeted treatments.
Pharmacogenomics is the study of how a patient’s genome can influence how they respond to medicines. Genetic variants can influence how medications are absorbed or metabolised by patients as well as their response to prescribed medicine. Genomics is an important component of personalised medicine; contributing to diagnosis, risk stratification, and treatment selection. It is important for pharmacy staff to consider a patient’s genomic information as part of medicines optimisation. Genomics is included in the GPHC’s standards for foundation pharmacists and the RPS competency framework for prescribers.
Pharmacogenomic testing allows healthcare professionals to predict patient response and tailor prescribing decisions to optimise treatment benefits and minimise the risk of toxicity. Many pharmacists already use pharmacogenetic screening in clinical practice, e.g. HLA-B*5701 screening before commencing abacavir or TPMT testing for thiopurine treatment.
Current projects: The DPYD project supports pre-emptive genotyping for adverse reactions for oncology patients, to better understand and manage toxicity profiles for chemotherapy treatments. Testing for specific genetic variants in the DPYD gene in patients being initiated on fluoropyrimidine-based chemotherapies can identify patients who lack the dihydropyridine dehydrogenase (DPD) enzyme which mediates 5-fluorouracil metabolism and elimination.
This pharmacogenomic DPYD testing can identify patients at increased risk of experiencing severe or fatal toxicity and indicate whether a dose reduction or alternative treatment is warranted.
To learn more about specific projects by clinical specialism, please visit our Regional and National Projects section of this site.