Read all about the latest developments in Pharmacogenomics here, along with opportunities for e-learning and development.

Supporting Pharmacogenomics Implementation: MT-RNR1 Genotyping

One of our recent service improvement projects focused on supporting and sharing best practice for the clinical implementation of m.1555A>G testing within Northeast and Yorkshire as defined by the national genomic test directory, using the paediatric cystic fibrosis patient cohort as an exemplar.

Aminoglycosides (gentamicin, amikacin, tobramycin, and neomycin) are a common class of antibiotic drugs. Evidence suggests an increased risk of aminoglycoside-associated ototoxicity – potentially leading to profound deafness – in patients with mitochondrial mutations (i.e., m.1095T>C; m.1494C>T; m.1555A>G), including cases where aminoglycoside serum levels are within the recommended range (estimated prevalence 1 in 500).

Why should m.1555A>G genotyping be considered?

PharmaGKB. Aminoglycoside Ototoxicity Pathway, Adverse Drug Reaction. [Online]

In 2021 the Medicines and Healthcare products Regulatory Agency published a drug safety update ‘Aminoglycosides: increased risk of deafness in patients with mitochondrial mutations’ advising clinicians to consider the need for genetic testing especially in patients requiring recurrent or long-term treatment with aminoglycosides.

This project illustrated the effectiveness of targeted communication, awareness raising and dissemination of best practice resources to facilitate the uptake of m.1555A>G gene testing within the paediatric cystic fibrosis patient pathway.

The involvement of local champions played a pivotal role in driving uptake. These champions were often senior clinicians and helped as influential figures who advocated for testing and facilitated local implementation.  Furthermore, the availability of national resources such as patient information and clinical guidance enhanced uptake and removed some of the implementation barriers.

Helpful tools and resources for clinicians

Genomics Education Programme Genomic Notes for Clinicians

Specialist Pharmacy Service – Implementing pharmacogenomic testing for aminoglycosides

Cystic Fibrosis Trust Patient Information Leaflet

For further information please contact [email protected], NEY GMS Pharmacy Lead

Pharmacogenomics Workshops for Trainee Pharmacists 

Over 200 trainee pharmacists from across the North of England recently attended one of five pharmacogenomics workshops designed and delivered by the NHS North East and Yorkshire and North West Genomic Medicine Service Alliances, in partnership with NHS England North East and Yorkshire and North West Schools of Pharmacy and Medicines Optimisation.

The workshops aimed to meet the General Pharmaceutical Council initial education and training of pharmacists learning outcomes related to genomics. They also supported trainee pharmacists to move from ‘knows how’ to ‘shows how’ and ultimately prepare them for the application of key pharmacogenomic principles in the workplace (‘does’).

In the workshop sessions trainee pharmacists engaged in informative presentations, interactive polls, quizzes and group problem solving centered around pharmacogenomic case studies to develop their understanding of pharmacogenomics in the healthcare context. Trainees were also provided the opportunity to practice pharmacogenomic patient counselling skills for effective patient communication.

Workshop Learning Objectives:

  • To describe the concept of star allele nomenclature in pharmacogenomics
  • To develop pharmacogenomics communication skills
  • To apply clinical guidance in the context of a case study with pharmacogenomic results

Next steps

We have gathered feedback from both trainees and workshop facilitators to ensure a thorough understanding of the workshops’ impact. Moving forward we plan to disseminate our evaluation to help inform genomics education for pharmacists at scale. Currently we’re analysing the data and will share updates on our findings soon.

Feedback from workshop attendees:

‘gave an insight into how genomics plays a role in healthcare and how it can help make decisions regarding medications’

Very informative, I feel as if I learnt a lot’

‘It was very interactive and the case studies were very well presented for us to understand this new topic’

Emma Groves, NEY GMS Pharmacy Lead, said “I really enjoyed developing these workshops for our future pharmacists. It’s exciting to witness the next generation exploring how pharmacogenomics integrates into clinical practice.”

New E-learning for Pharmacists

Pharmacists can learn about the impact of genomics on their practice through a free e-learning resource, developed by University Hospital Southampton NHS Foundation Trust’s Medicine Learning Portal team. The tutorial features case studies and includes topics such as the fundamentals of genomics and how an individual’s genome can affect drug response and efficacy.

Start your genomics journey today by accessing the tutorial online.

New Centre for Pharmacy Postgraduate Education E-learning

‘Genomics in pharmacy: an introduction to person-centred consultations’ is a 2.5 hour e-learning programme that aims to support pharmacy professionals to develop the knowledge, skills and confidence to have person-centred consultations with people about genomics in everyday pharmacy practice. Find out more here.

Pharmacogenomic Testing for Medicines Optimisation

The key note speaker at the recent Diagnostics North East Annual Conference, Professor Sir Munir Pirmohamed, presented ‘Pharmacogenetic testing for medicines optimisations’.  Professor Sir Pirmohamed is the David Weatherall Chair in Medicine at the University of Liverpool, NHS Chair of Pharmacogenetics, and a Consultant Physician at the Royal Liverpool University Hospital.’ View his hugely informative and compelling presentation here