Pharmacy
Mainstreaming genomics to support prescribing decisions and treatment stratification
Pharmacogenomics brings together the scientific approach of pharmacology and genomics to help guide clinicians in tailoring a person’s treatment based on a genetic report. It enables the right medication to be prescribed to the right patient at the right time, preventing severe or life-threatening side effects.
What is pharmacogenomics?
Pharmacogenomics is the study of how a person’s genes affect their response to drugs. It combines pharmacology (the study of drugs) and genomics (the study of genes and their functions) to develop safer and more effective medications tailored to an individual’s genetic makeup.
Why is pharmacogenomics important?
- Personalised Medicine – Helps doctors prescribe the right drug at the right dose for each patient
- Reduces Adverse Drug Reactions – Some people metabolise drugs too fast or too slowly, which can lead to ineffective treatment or dangerous side effects
- Improves Drug Efficacy – Ensures medications work as intended based on genetic differences
- Speeds Up Drug Development – Helps researchers design better clinical trials and develop targeted therapies
| 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.
What are the differences between pharmacogenomics and pharmacogenetics? What is precision medicine?
There is no absolute consensus on the definitions of pharmacogenomics and pharmacogenetics, but they are often used interchangeably with subtle distinctions:
- Pharmacogenetics traditionally refers to the study of how individual genetic variations affect a person’s response to specific drugs. It focuses on single gene-drug interactions and how genetic differences influence drug metabolism, efficacy, and safety
- Pharmacogenomics is broader, encompassing the study of how the entire genome influences drug response. It includes not just single-gene effects but also the role of multiple genes, pathways, and regulatory mechanisms in drug response and disease
Precision medicine in relation to pharmacogenetics and pharmacogenomics
Precision medicine (also called personalised medicine) refers to tailoring medical treatment to an individual’s genetic makeup, lifestyle, and environment.
- Pharmacogenomics and pharmacogenetics play a crucial role in precision medicine by helping doctors choose the most effective drugs and dosages while minimising adverse effects
- Rather than a one-size-fits-all approach, precision medicine aims to provide targeted treatments based on a patient’s unique genetic profile
How are we making a difference?
The North Thames GMS Alliance pharmacy team is actively supporting the implementation and uptake of pharmacogenetic testing. Key efforts include:
- Education & training: Developing genomic literacy among pharmacy professionals
- Implementation support: Integrating pharmacogenetics safely into routine clinical care
- National test directory: Supporting the use of DPYD, TPMT, NUDT15, MT-RNR1, and CYP2C19 testing. Working collaboratively with specialist pharmacists and clinicians to introduce new tests to the directory
What have we done so far?
- Pharmacogenomic implementation in clinical practice: Supporting hospitals in safely adopting pharmacogenetic testing.
- Educational resources: Curating training materials on CYP2C19, DPYD, and other key pharmacogenomic markers.
- Podcast & training webinars: Developed targeted genomic training for pharmacy professionals.
What are we doing?
- Expanding genomic education: Webinars, podcasts, and on-demand resources on pharmacogenomics.
- Supporting clinical pathway initiatives: Providing governance and training materials for safe implementation.
- National collaboration: Working with NHS teams to improve equitable access to pharmacogenomic testing.
What training is available?
Pharmacogenetic testing and precision medicine and the role of pharmacy professionals continues to be a key priority within NHS strategies and based on the pharmacogenetic tests now available and the plan for the next few years, increasingly, the focus is now shifting from awareness to implementation. With cancer we are familiar with the role DPYD plays within solid malignancies and we have TPMT and NUDT15 testing within acute lymphoblastic leukaemia. However, testing is moving from specialist drugs to commonly prescribed drugs, therefore there is a growing need to learn more about the role pharmacogenetics plays within dosing and to prevent severe adverse drug reactions. Below are a few links to get you started.
For those who are new to the concept of pharmacogenetics, there are some great online resources to get you going. We have our North Thames podcasts found on “Genomics Now” which provides 10 to 15 minute bitesize episodes on pharmacogenetics.
CPPE have developed 2 online packages and there is a pharmacogenetics specialist programme launched by the Medicines Learning Portal. You can also find other resources on the NHS Genomic Education Programme site which you can explore.
- CPPE Genomics Gateway – will require login access
- Contains 2 online training resources; Introduction to genomics in pharmacy AND Genomics in pharmacy: An introduction to person-centred consultation.
- Links to Genomic Education Programme webpage
- Link to Personalised-prescribing-full-report.pdf.aspx
- Medicines Learning Portal: Pharmacogenomics – free to access for all healthcare professionals
- Healthcare Education England: Genomics in Pharmacy
- Genomics Education Programme Welcome to Genomics Education Programme – Genomics Education Programme
If you are involved in the implementation, testing, provision of education or are directly involved within the clinical pathway for pharmacogenomics, then you may find it useful to explore a resource called clinical pathway initiatives, also known as CPIs. These CPIs break down the pathway into key steps and highlights key competencies and the responsible professionals for each pathway step. In additional, attached to each step and competency are useful resources. You can explore the full list using the link below and the CPIs which are in development. Overall, the aim of a CPI is to ensure the safe and effective implementation of genetic testing
- Clinical Pathway Initiatives: Clinical Pathway Initiative: established pathways – Genomics Education Programme
Within our North Thames GMSA education and training section you can find several curated resources which detail the clinical utility of pharmacogenetics and precision medicine, and you can explore these resources here:
At North Thames GMS we have also placed our CYP2C19 workshop materials, including an on-demand recording called CYP2C19 pharmacogenetic report walk through video. You can use these materials to have a go at interpreting CYP2C19 pharmacogenetic reports for clopidogrel and lansoprazole.
In terms of other online courses, there’s not a lot in terms of a free UK based training which acts as a next step up from the CPPE or medicines learning portal. However, once you have had a go with the UK resources there is an online course developed by an American pharmacogenetics team. This course provides interesting pharmacogenetic case studies and gives you the opportunity to work though questions and a pharmacogenetic report using pharmacogenetic guidelines. However, it is tailored to American clinicians, as you need to refer to FDA sites and refers to health insurance. But on having a go myself it is a good free resource to delve into.
Currently 8 universities are offering a MSc Genomic Medicine course. This course offers a range of modules and if you are an NHS healthcare professional you can apply for funding via Health Education England now called NHS England Education and Training.
If you don’t want to do the full masters, you can undertake a couple of modules or complete 4 modules to obtain a certificate or 8 modules for a diploma qualification. For the Msc you will need to complete a research project. The choice is yours. If you have any questions, please feel free to contact the North Thames GMS Pharmacy team for advice.
- Individual Modules / PGCert / PGDip / Master’s in Genomic Medicine (HEE Funded)
Resources available
- Listen to the dedicated Genomic series of our Genomics Now podcast, where we also have dedicated series for pharmacogenomics.
- Head to our pharmacogenomics curated training collection, and browse through our other curated resources for familial Hypercholesterolaemia, lunch syndrome, cystic fibrosis and more: Curated collections – North Thames GMS : North Thames GMS
GeNotes are genomic notes for clinicians utilising a ‘just in time’ educational resource for healthcare professionals working in the NHS. There are two forms of resources on GeNotes
- Educational information at the point of need known as “In the Clinic”, and
- Extended learning materials, known as the “Knowledge Hub”.
For example, if you wanted to know more about the BRCA2 gene and you are in clinic reading through a patients notes, you can navigate to the “in the clinic” resource Results: Patient with breast cancer and a somatic (tumour) BRCA2 variant — In the Clinic. Then if you would like to learn more for further CPD you can navigate to the knowledge hub for BRCA2 here: BRCA1 and BRCA2 — Knowledge Hub. The best way to find resources is to have a play with the site, it is intuitive to use and contains information for both rare diseases, cancer, pharmacogenetics and other clinical areas.
The Future Learn courses are free to access and most need to be completed within the timeframe stated and after this time you may lose access to the materials. To obtain a certificate of completion, you will need to pay for the course at the end. Some of the courses are free for NHS staff, please check carefully to unsure to obtain the free access. Below are example of some courses which are available, but please have a look for other courses using key search terms genetics or genomics:
- DNA, Genetics, and Genomics: Understanding their Importance in Health and Cancer – 2-week course
- Genomics in the NHS: A Clinician’s Guide to Genomic Testing for Cancer (Solid Tumours) – 2-week course
- Familial Hypercholesterolaemia
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.
Who can I contact?
- Clinical queries: Dharmisha Chauhan, Lead Genomics Pharmacist (nt-gmsa@gosh.nhs.uk)
- Testing queries: North Thames Genomics Laboratory (nt-gmsa@gosh.nhs.uk)
- General queries: nt-gmsa@gosh.nhs.uk