Curated Collections

In April 2023, a guideline was released to provide dosing recommendations for 6-mercaptopurine (6-MP) in adult acute lymphoblastic leukaemia patients based on their TPMT and NUDT15 genotypes. The new guideline can be found on the BOPA website.

This educational webinar explains:

• The role of 6-MP in the treatment of ALL and it’s mechanism of action
• The role of TPMT and NUDT15 in the metabolism and detoxification of 6-mercaptopurine
• Common variant alleles that contribute to reduced or absent TPMT/NUDT15 enzyme activity and how this is linked to increased myelosuppression in your patients
• The importance of genetic testing for this patient cohort and how to implement dose modifications based upon a patient’s phenotype

Download a copy of the presentation slides here.

In January 2021 the MHRA released a drug safety update on the increased risk of deafness due to a mitochondrial genetic variant when patients are treated with a class of antibiotics called aminoglycosides. This pharmacogenetic test is available on the National Genomic Test Directory if the eligibility criteria are met.

This webinar by the North Thames Genomic Medicine Service covers the following:

• The mechanism of aminoglycoside inducted deafness due to m.1555A>G
• How the test is currently being used
• The limitations and governance considerations when implementing testing
• Future technology e.g., point of care testing

Download a copy of the presentation slides here.

On 14 July 2022 the North Thames Genomic Medicine Service (GMS) held an event showcasing how genomic medicine is transforming healthcare in our region.

In this talk Dharmisha Chauhan, Lead Genomic Pharmacist at North Thames GMSA, introduces what pharmacogenomics is, explains some of the genes that are known to affect drug metabolism, and discusses current projects in pharmacogenomics as well as looking ahead to future projects both regionally and nationally.