I fondly remember learning about DNA, genes and chromosomes during my A-levels and, since then, I’ve been fascinated by how an organism’s genome contains all of the information needed to grow, develop and repair. Almost simply, four nucleotide bases and their combinations give a unique code (genome) that make us all individual: individual in physical characteristics, but also individual in our risk of developing certain conditions, how they progress and how we respond to medication.
We’ve come so far in genomic sequencing — the first whole human genome took 13 years to sequence, but today one can be sequenced in about a day. Using this information, we can understand the role of genomics in the cause, investigation and management of disease; and how genomic variation, together with lifestyle factors, can affect our health and how we can prevent and treat disease.
Understanding these factors will allow us to deliver personalised medicine to improve the future health of the population.
As a pharmacist, medicines safety has, of course, been at the core of my practice, but I’m particularly interested in pharmacogenomics — how genes affect a person’s response to drugs.
Genomic differences can explain the patient variation in efficacy and toxicity that we observe in practice. Understanding pharmacogenomics can enable the development of effective, safe medications and doses, tailored to a person’s genetic makeup.
Over the next ten years, we’ll begin to see routine genomic testing in the NHS. It will be important to understand this emerging technology and to support appropriate application across our health system. There is a specific expectation to improve the effectiveness of approaches to rapidly treat those identified with high-risk conditions.
Community pharmacists and GP practices will also provide opportunities for the public to check on their health, through tests for high blood pressure and other high-risk conditions. Access to genetic testing for familial hypercholesterolaemia will also be expanded, enabling us to diagnose and treat those at genetic risk of sudden cardiac death.
The creation of seven new Genomic Medicine Service alliances are going to be important in achieving the potential of genomics for improved, personalised care. These alliances, currently being put in place by NHS England and NHS Improvement, will have a critical role in facilitating strong collaborations across regions, working with patients and the public to build trust in genomics and providing clinical leadership to enable the multi-professional workforce to use genomics safely, effectively and efficiently.
Recent guidance on the role of pharmacy in this new infrastructure asks hospital chief pharmacists and clinical commissioning group lead pharmacists to encourage members of their pharmacy teams to learn about genomics and personalised medicine.
This is a new era for genomics and pharmacy. To prepare for this challenge, I have completed an introductory genomics course and will be continuing further study over the next year. You can learn more about genomics and personalised medicine at: https://www.genomicseducation.hee.nhs.uk
Mandeep Butt, senior pharmacist and clinical medicines optimisation lead, UCLPartners