Consultation – Pharmacogenomics   

Session Lead: Dr Sophie Harding, Consultant Pharmacist for Genomics & Pharmacogenomics (Cardiff and Vale University Health Board)  

Sophie discussed the potential of pharmacogenomics to personalise medicine based on genetic information, highlighting its impact on patient care. 

The Sounding Board were divided into four breakout groups and provided the following responses to questions:   

 Breakout group 1 

 As a patient:  

• Would you want to know your pharmacogenomic clopidogrel test result, and would you want to know before taking the clopidogrel?   

• Or would you be comfortable to be contacted only if there is a change to the medication you require?  

 Members had different preferences for receiving pharmacogenomic test results for clopidogrel, with some wanting results before starting treatment and others only if medication changes are needed. A clear consent process and accessible information on side effects were deemed important for informed decision-making. 

 Breakout Group 2 

There are various levels of quality evidence for testing with other medicines partially or fully metabolised by the same enzyme (as clopidogrel). Therefore, sharing results with General Practitioners could open opportunity for prescribers to change doses of your other medication considering the pharmacogenomics results: What is your opinion on this?  

 Sharing test results with GPs was seen as beneficial for patient care, especially in adjusting doses for other medications. Concerns included the healthcare professionals’ understanding of pharmacogenomics, the detection of all genetic variations, and the need for more information on side effects. 

Breakout Group 3 

It is important to ensure we are working towards equity of access to testing using a ‘Scale and Spread’ approach to implementation following the pilot phase of our work. Some regions where pilots are located will have access sooner than other regions: What is your opinion on this approach?  

 Equitable access to testing across regions was emphasised, with consistent pilot implementation and adequate resources crucial. There were concerns about regional diversity and financial disparities between health boards, though regional restrictions on pilots were seen as potentially beneficial for risk management. 

Breakout Group 4 

1) Following recommendations by the National Institute of Health and Care Excellence (NICE) Diagnostics Assessment Programme (DAP), NHS England are now comparing the standard laboratory tests that would be offered against Point-of-Care Testing options. What is your opinion of different approaches to testing, from the perspective of a patient? What would you see as being the pros and cons of this?  

 
Point-of-care testing was appreciated for fast results, but concerns about accuracy, follow-up testing, and patient understanding were raised. Questions about the test’s location, result handling, and medication impacts were discussed, highlighting the need for clarity on these issues. 

  2)How to engage and communicate with the public regarding pharmacogenomics and the plan?  

 Information should be clear and accessible, using infographics and simple language, especially for terms like “pharmacogenomics.” Tailor messages to different audiences and focus on the patient’s perspective, highlighting the impact on their care. Share personal stories on how point-of-care testing improves outcomes. Genomics education should start early, in school biology classes. GPs should engage openly with patients about medications, while pharmacists can support understanding, leveraging their trusted community role. Cost concerns and social media accessibility were noted. Community spaces like libraries and pharmacies can help spread awareness, alongside existing local governance channels.