Pharmacogenomics: Information sources

Last updated: Tuesday, March 12, 2024

Some Summaries of Product Characteristics may contain helpful information about prescribing medicines according to a patient’s genomic profile (e.g. allopurinol, clopidogrel, citalopram, simvastatin). These may be accessed via the emc or MHRA websites.

The MHRA have published multiple alerts relating to pharmacogenomics and drug safety. These include: 

Carbamazepine, oxcarbazepine and eslicarbazepine: potential risk of serious skin reactions [2012]
Tamoxifen for breast cancer [2010] 

Statins: benefits and risks [2014] 

Phenytoin: risk of Stevens-Johnson syndrome associated with HLA-B*1502 allele in patients of Thai or Han Chinese ethnic origin [2010] 

Codeine: restricted use as analgesic in children and adolescents after European safety review [2013] 

Codeine-containing pain relief in children [2012] 

5-fluorouracil (intravenous), capecitabine, tegafur: DPD testing recommended before initiation to identify patients at increased risk of severe and fatal toxicity [2020]

Aminoglycosides (gentamicin, amikacin, tobramycin, and neomycin): increased risk of deafness in patients with mitochondrial mutations [2021] 

The National Genomics Education Programme’s GeNotes site has an A-Z Knowledge Hub which you can use to refresh your memory or learn about different genomic concepts. The site also has a series of clinical scenarios including some on pharmacogenomics.

The PharmGKB site is a specialist pharmacogenomic resource funded by the National Institute of Health in the United States (US). New users can take a tour of the site here and get advice on searching here. 

If you have time you can listen to Rachel Huddart, Scientific Curator at PharmGKB, provide a more detailed walkthrough of how to use the site (17 minutes). The sites includes prescribing information, clinical guidelines and diagrams. Particularly helpful if you are new to pharmacogenomics are the overviews of very important pharmacogenes (VIPs). 

A related site is the Clinical Pharmacogenetics Implementation Consortium. Also funded by the US government, this resource aims to support healthcare professionals make decisions about medicines based upon the results of pharmacogenetic testing. The menu bar signposts you towards guidelines, an alphabetical list of medicines together with genes that may impact upon their efficacy or safety, and lots of other helpful information. Again, you can listen to Dr Mary Relling explain more about the site (17 minutes).

Several of NICE’s Clinical Knowledge Summaries may also be helpful to pharmacists and pharmacy technicians working with pharmacogenomic data including that on Familial hypercholesterolaemia, carbamazepine for trigeminal neuralgia and allopurinol for gout. 

Genomics England have an independent Participant Panel who have produced a useful guide on language and terminology when communicating with patients and their families. It is intended for Genomics England staff but may be helpful for healthcare professionals conducting consultations.