Link bank — Genomics in Healthcare | Genomics Education Programme

Resources are tagged with helpful information, including type, name, publisher and an estimated completion time so you can plan your study.

Clinical resources

GeNotes Pharmacogenomics | NHS England Genomics Education Programme (GEP) | Flexible
National Genomic Test Directory | NHS England | Flexible
Clinical Pharmacogenetics Implementation Consortium (CPIC) | Flexible (Note: international resource – applicability to UK practice may vary)

Note: Key resources related to specific genomic tests are available here.

Funded taught courses

Master’s in Genomic Medicine framework | NHS England GEP | Flexible

Browse the available modules within the framework, including:

Pharmacogenomics and Stratified Healthcare | NHS England GEP | Flexible
Fundamentals in Human Genetics and Genomics | NHS England GEP | Flexible

Key documents and guidance

Accelerating genomic medicine in the NHS | NHS England | 1–2 hours
NHS Long Term Workforce Plan | NHS England | Flexible
Personalised Prescribing – Using pharmacogenomics to improve patient outcomes | British Pharmacological Society | 1–2 hours
Pharmacogenomics – the future of pharmacy? | Royal Pharmaceutical Society | Flexible
Pharmacy genomics workforce, education and training strategic framework | NHS England | 30–45 minutes
For trainers: Initial Education and Training of Pharmacists: Genomic Medicine Indicative Curriculum (2024) | NHS England | 10 minutes

Additionally, follow NHS England’s Publications webpage for more updates relevant to genomics. Other drivers for the NHS GMS include the Life Sciences Strategy, Genome UK, Genome UK 2021 to 2022 implementation plan, Generation Genome, and Improving Outcomes Through Personalised Treatment.

Multimedia

Film: Isobel’s story: genomic testing and treatment for cancer | NHS England GEP | 5 minutes

Networking and events

British Inherited Metabolic Diseases Group (BIMDG)
British Oncology Pharmacy Association (BOPA) Genomic Medicine Special Interests Group | BOPA
Genetic Alliance UK members directory (list of organisations related to genetic diseases) | Genetic Alliance UK
National Pharmacogenomic Network of Excellence events | North West and North East & Yorkshire Genomic Medicine Service Alliances
Pharmacy’s guide to genomic medicine | Clinical Pharmacy Magazine
UK Clinical Pharmacy Association (UKCPA) Genomics community | UKCPA
UK Pharmacogenetics & Stratified Medicine Network (UKPGx)

Online courses, learning and resources

Course: Genomics 101: From Genes to Genome | NHS England GEP | 30 minutes
Course: Genomics 101: Talking Genomics | NHS England GEP | 30 minutes
Resource: Genomics Gateway | CPPE | 30 minutes to 4 hours
Course: Introduction to genomics in pharmacy | Centre for Pharmacy Postgraduate Education (CPPE) | 2 hours
Course: Pharmacogenomics | Medicines Learning Portal | 30 minutes

Notable primary literature and databases

Literature

Swen JJ, van der Wouden CH, Manson LEN and others. ‘A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study’. The Lancet 2023: volume 401, issue 10374, pages 347–356. DOI: 10.1016/s0140-6736(22)01841-4
Malki MA and Pearson EW. ‘Drug–drug–gene interactions and adverse drug reactions‘. The Pharmacogenomics Journal 2019: volume 20, issue 3, pages 355–366. DOI: 10.1038/s41397-019-0122-0
Youssef E, Kirkdale CL, Wright DJ and others. ‘Estimating the potential impact of implementing pre-emptive pharmacogenetic testing in primary care across the UK‘. British Journal of Clinical Pharmacology 2021: volume 87 issue 8, pages 2,907–2,925. DOI: 10.1111/bcp.14704
Pirmohamed M. ‘Pharmacogenomics: current status and future perspectives’. Nature Reviews Genetics 2023: volume 24, issue 6, pages 350–362. DOI: 10.1038/s41576-022-00572-8
Wickens HJ, Simpson S, Pope A and others. ‘Pharmacy and Genomic Medicine: A UK-wide survey of pharmacy staff assessing their prior education, confidence and educational needs‘. International Journal of Pharmacy Practice 2023: volume 31, issue 2, page ii53. DOI: 10.1093/ijpp/riad074.066
McDermott JH, Mahaveer A, James RA and others. ‘Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care‘. JAMA Pediatrics 2022: volume 176, issue 5, pages 486–492. DOI:10.1001/jamapediatrics.2022.0187

Databases

PharmGKB (Database linking to primary evidence and aggregating international pharmacogenomic resources)

Key resources for specific pharmacogenomic tests in clinical practice

In addition to the resources listed here, please explore the eligibility criteria for the tests in the National Genomic Test Directory and the availability with your local or regional laboratory service, or visit the GeNotes pharmacogenomics pages related to the test or drug of interest.

Aminoglycoside-induced hearing loss & MT-RNR1

National Genomic Test Directory test code: R65: Aminoglycoside exposure posing risk to hearing (see eligibility criteria)
Aminoglycosides (gentamicin, amikacin, tobramycin, and neomycin): increased risk of deafness in patients with mitochondrial mutations | GOV.UK | 5–10 minutes
Implementing pharmacogenomic testing for aminoglycosides | Specialist Pharmacy Service | 5–10 minutes
Patient information leaflet (under ‘Treatments, therapies and care’ -> ‘MT-RNR1 testing’) | Cystic Fibrosis Trust | 5–10 minutes

Fluoropyrimidines and DPYD

National Genomic Test Directory tests available on multiple cancer types treated with fluoropyrimidines (check with your local lab and service):
- M1.7: Colorectal Carcinoma
- M3.7: Breast Cancer
- M6.5: Mucoepidermoid Carcinoma
- M14.5: Adrenal Cortical Carcinoma
- M15.7: Head and Neck Squamous Cell Carcinoma
- M16.4: Adenoid Cystic Carcinoma
- M17.4: Secretory Carcinoma
- M219.3: Pancreatic Cancer
- M220.3: Cholangiocarcinoma
- M222.4: Hepatocellular Carcinoma
- M237.2: Gastric Cancer
- M238.2: Small Bowel Cancer
- M119.4: Paediatric Tumours
- M136.5: Fibrolamellar Hepatocellular Carcinoma – Paediatric
- M226.3: Cancer of Unknown Primary
- M227.3: Solid Tumour (other not listed)
5-fluorouracil (intravenous), capecitabine, tegafur: DPD testing recommended before initiation to identify patients at increased risk of severe and fatal toxicity (2020) | GOV.UK | 5–10 minutes
Clinical guideline: Personalised medicine approach for fluoropyrimidine-based therapies (2024) | UK SACT Board | 20–30 minutes
GeNotes: Fluoropyrimidine-based chemotherapies | NHS England GEP | 5–10 minutes
Policy statement: Pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies [URN 1869] (200603P) | NHS England | 20–30 minutes
Patient information and resources | NHS North West Genomic Medicine Service Alliance | Flexible

6-mercaptopurine and TPMT/NUDT15

National Genomic Test Directory test code: M91.80: TPMT and M91.81: NUDT15
Guideline for 6-mercaptopurine dosing in adult acute lymphoblastic leukaemia based on TPMT and NUDT15 genotypes (2024) | BOPA (currently hosted on UKCPA Genomics website) | 10–20 minutes
GeNotes: Presentation: Patient requiring 6-mercaptopurine for acute lymphoblastic leukaemia | NHS England GEP | 5 minutes
Patient information and resources | Macmillan Cancer Support

Clopidogrel and CYP2C19 (test currently not routinely commissioned in the NHS)

Diagnostics guidance [DG59]: CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack (Recommendation to test if laboratory or point-of-care testing are available) | NICE | 10-20 minutes
National Clinical Guideline for Stroke for the UK and Ireland (Recommendations for alternative antiplatelets if clopidogrel is unsuitable) | Flexible

Mavacamten and CYP2C19

GeNotes: Presentation: Patient requiring mavacamten for the treatment of hypertrophic cardiomyopathy | NHS England GEP | 5 minutes
Patient information and resources | NHS North West Genomic Medicine Service Alliance | Flexible

Last updated on 3rd September 2025