Since learning about DNA, genes and chromosomes during my A-levels, I have always been fascinated by how an organism’s genome contains all the information needed to grow, develop and repair. How the relative ‘simplicity’ of the 4 nucleotide bases and their combination gives a unique code (genome) that make us all individual. Also, how our genome influences not only our physical characteristics but also our risk of developing certain conditions, how they progress and how we respond to medication.
It took 13 years (1990-2003) to complete the first whole human genome sequence. Today, one human genome can be sequenced in about a day! It’s amazing how far we have come in 30 years.
We will soon have routine genomic testing in NHS practice, which will allow us to understand:
- The role of genomics in the cause, investigation and management of disease.
- 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 always been at the core of my practice. I am particularly interested in pharmacogenomics and 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 the NHS will begin to offer routine genomic testing. It will be important to understand this emerging technology and to support appropriate application across the NHS. 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 (FH) will also be expanded, enabling us to diagnose and treat those at genetic risk of sudden cardiac death.
Key to achieving the potential of genomics for improved, personalised care to patients is the creation of seven new Genomic Medicines Service Alliances. 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 CCG 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.
To learn more about genomics and personalised medicine, visit https://www.genomicseducation.hee.nhs.uk
About the North Thames Genomic Medicine Service Alliance: The North Thames Genomic Laboratory Hub (GLH), established in October 2018, is one of UCLPartners’ designations and offers genomic testing for rare and inherited diseases and somatic genomic testing for cancer for the population of north London and parts of Essex and Hertfordshire. It is soon to be augmented by the North Thames Genomic Medicine Service Alliance (GMSA), also to be hosted at UCLPartners.
This blog was first published in The Pharmaceutical Journal