Pharmacogenomics: resources to support answering questions

SPS Resources

The SPS website has various pharmacogenomics resources. For example, our article on Implementing pharmacogenomic testing for aminoglycosides (SPS page) provides advice on testing patients for mitochondrial genetic variants.

If you need further information, or if your clinical scenario is complex, you can seek further advice from our Medicines Advice Service (SPS page)

Recommended resources

In addition to our resources, we particularly recommend the following (which are free to access unless otherwise indicated):

Local Genomic Medicine Service Alliance

Your local Genomic Medicine Service Alliance (GMSA) may have online resources for healthcare professionals or patients.

There are 7 GMSAs in England which make up the National Genomic Medicine Service:

• NHS North West GMSA
• NHS North East and Yorkshire GMSA
• NHS East GMSA
• NHS Central and South Genomics Service
• NHS North Thames Genomics Medicine Service
• NHS South East Genomics
• NHS South West Genomics Medicine Service

If your question relates to the care of a specific patient under the care of a specialist, it can be helpful to contact that specialist directly.

Local formulary or guidelines

Your local Area Prescribing Committee, Medicines Management Group or similar body may have relevant guidelines or documents on its website. These may include local prescribing guidelines and shared care protocols.

NICE guidelines

NICE diagnostics guidance provides evidence-based recommendations for CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack. It covers the use of diagnostic laboratory-based and point-of-care testing.

National Genomic Test Directory

The National Genomic Test Directory specifies:

• the NHS commissioned genomic tests in England
• the technology by which they are available
• which patients are eligible individuals

Tests are available for rare and inherited diseases, as well as for cancer.

Summaries of Product Characteristics

SPCs are available via the electronic Medicines Compendium and MHRA website. They will provide details on any pharmacogenomic testing required before prescribing (section 4.1).

UK Clinical Pharmacy Association

The UKCPA Handbook of Pharmacogenomics is endorsed by the Royal Pharmaceutical Society and British Pharmacological Society and supported by the Royal College of General Practitioners.

It offers healthcare professionals evidence-based advice and guidance on drugs in a simple and easy-to-use format, which covers:

• the impact of genetic variation on response to therapy
• testing recommendations
• therapeutic recommendations
• along with additional drug-specific information

Clinical Pharmacogenetics Implementation Consortium

The CPIC is an international consortium that creates evidence-based clinical practice guidelines.

Their medicine guidelines provide therapeutic recommendations for dosing specific medicines based on genotype. A large range of guidelines is available, including:

• CFTR and Ivacaftor
• CYP2B6 and efavirenz
• CYP2B6 and methadone
• CYP2C19 and Clopidogrel
• CYP2C19 and Proton Pump Inhibitors
• CYP2C19 and Voriconazole
• CYP2C9 and NSAIDs
• CYP2C9, HLA-B and Phenytoin
• CYP2C9, VKORC1, CYP4F2 and Warfarin
• CYP2D6 and Atomoxetine
• CYP2D6 and Ondansetron and Tropisetron
• CYP2D6 and Tamoxifen
• CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 and Beta-Blockers
• CYP2D6, CYP2C19 and Tricyclic Antidepressants
• CYP2D6, CYP2C19, CYP2B6, SLC6A4, HTR2A and Serotonin Reuptake Inhibitor Antidepressants
• CYP2D6, OPRM1, COMT, and Opioids
• CYP3A5 and Tacrolimus
• DPYD and Fluoropyrimidines
• G6PD
• HLA-A, HLA-B and Carbamazepine and Oxcarbazepine
• HLA-B and Abacavir
• HLA-B and Allopurinol
• IFNL3 and Peginterferon-alpha-based Regimens
• MT-RNR1 and Aminoglycosides
• NAT2 and Hydralazine
• RYR1, CACNA1S and Volatile anesthetic agents and Succinylcholine
• SLCO1B1, ABCG2, CYP2C9, and Statins
• TPMT, NUDT15 and Thiopurines
• UGT1A1 and Atazanavir

ClinPGx

ClinPGx (formerly PharmGKB) is a US-funded resource that provides information about how human genetic variation affects response to medications.

It allows users to search for a drug, gene, variant, or combination to find various pharmacokinetic, pharmacodynamic and pharmacogenetic information. It uses CPIC guidelines and other resources to provide practical genotype-based drug-dosing advice. The What is ClinPGx page walks through how to use the different resources offered.

It also uses published clinical guidance and FDA-approved drug information to provide summaries describing the potential impact of genotype variants.

Training resources

If you would like more information on how to approach answering questions on pharmacogenomics or using pharmacogenomics in your practice, we recommend:

Genomics Education Programme

The NHS Genomics Education Programme offers or links to various levels of educational material. This includes bitesize learning, online programmes, and taught courses.

The dedicated Genomics in Pharmacy homepage gives an overview of how genomics can influence every pharmacy sector, providing links to relevant resources and training, including:

• GeNotes – a new resource with regularly added content, it offers educational material, guidance summaries, and specific drug-gene resources
• Genomics 101 – a 30–minute online course that covers the fundamental principles of genomics and its applications in healthcare, access is free for NHS staff

Centre for Pharmacy Postgraduate Education

CPPE provides training packages intended as an introduction to genomics and pharmacogenomics. Topics covered include:

• what is genomics?
• an introduction to genomics in healthcare
• an introduction to person-centred consultations

Medicines Learning Portal

The Medicines Learning Portal is usually aimed at pharmacists in hospitals. However, NHS England has commissioned material to support pharmacists, technicians, and trainees across all sectors with limited experience working with pharmacogenomic information. The portal includes a tutorial on pharmacogenomics, which provides information on:

• how genomic data can be used in the prediction, prevention, diagnosis and treatment of disease
• how pharmacogenomic information is used in the NHS
• practical and ethical considerations

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