Pharmacy
Mainstreaming Genomics in Pharmacy
Pharmacogenomics brings together the scientific approach of pharmacology and genomics to help guide clinicians to tailor a person’s treatment based on a genetic report across rare diseases, cancer and for commonly prescribed medications.
Pharmacogenomics encapsulates precision medicine and pharmacogenetics. Precision medicine is how drug therapy can be matched to a targeted treatment using a molecular genomic report and is being used within clinical practice within cancer and some rare diseases. The aim is to tailor patients treatments to a gene change to improve clinical outcomes.
In contrast pharmacogenetics is the use of genetic testing to identify which individuals are more likely to experience an adverse drug reaction. For example, some individuals may require a dose reduction whereas others may need a completely different medication.
Overall, precision medicine and pharmacogenetics aims to help prescribers prescribe the right medication to the right patient at the right time.
Within North Thames GMS, the pharmacy team have supported the implementation of pharmacogenetic testing with DPYD, TPMT, NUDT15, MT-RNR1 and CYP2C19. A large part of our work involved the provision of education and training, and supporting local teams to implement pharmacogenetic safely into clinical care.
| Gene | Clinical area | Drug | Testing required to |
|---|---|---|---|
| DPYD | Oncology | Fluoropyrimidines | Reduce risk of severe side effects e.g., diarrhoea, stomatitis. |
| TPMT NUDT15 | Acute Lymphoblastic Leukaemia | 6-mercaptopurine | Identify those at risk of severe neutropenia |
| MT-RNR1 | Neonatal care/cystic fibrosis | Aminoglycosides | Prevent hearing loss, in severe cases bilateral hearing loss |
| CYP2C19 | Stroke | Clopidogrel | Increased risk of another stroke or cardiovascular event if a patient is a poor metaboliser |
Table 1: Examples of pharmacogenetics genes which can be tested within England.
The North Thames Genomic Medicine Service Pharmacy Network
We have built a regional Pharmacy Network that aims to bring together professionals across the regions. The network comes together to share updates on educational events, national pharmacogenomic projects as well as regular newsletters/
If you are interested in joining this network, please contact Dharmisha.Chauhan1@nhs.net. Please also get in touch to find out how we can provide tailored education and training opportunities.
Resources available
Listen to the dedicated Pharmacogenomics series of our Genomics Now podcast – Genomics Now | North Thames Genomic Medicine Service (podbean.com)
Head to our pharmacogenomics curated training collection – Pharmacogenomics Study Day (September 2024) – North Thames GMS : North Thames GMS (norththamesgenomics.nhs.uk)