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Pharmacogenomics-Guided Medication Safety in Cardiovascular Disease

A disease-specific health data science implementation plan for CYP2C19-guided antiplatelet prescribing in the UAE, built on the National Genome Strategy and the Emirati Genome Program.

A design-focused report. It takes one high-stakes prescribing decision and works out the data, methods, governance, and evaluation needed to support it in routine care.

The CYP2C19-guided dual antiplatelet therapy pathway across actors and time, with data converging at the DAPT decision and governance gates marked between stages

Figure 1. The CYP2C19-guided dual antiplatelet therapy (DAPT) pathway under the EGP-C1 pilot.

The problem

Cardiovascular disease is the leading cause of death in the UAE, and coronary disease presents earlier than in Western populations. After a stent is placed, the choice of antiplatelet drug matters. Patients who are CYP2C19 poor or intermediate metabolisers do not activate clopidogrel well and stay at risk of further events. In a UAE pilot, about 47% of cardiovascular patients carried such a phenotype. A single global prescribing rule cannot be assumed for a highly multi-ethnic population.

The plan

The report scopes the dual antiplatelet therapy (DAPT) decision after acute coronary syndrome and percutaneous coronary intervention. It then specifies:

  • A six-row data fabric that turns a CYP2C19 genotype, EHR context, medication and claims data, laboratory values, patient-reported outcomes, and ancestry into one decision-grade record.
  • Four health data science methods: CPIC star-allele translation (PharmCAT), rules-based clinical decision support via HL7 FHIR Genomics and CDS Hooks, risk-adjusted outcome modelling, and Arabic clinical natural language processing.
  • A governance layer covering the UAE Personal Data Protection Law, the ADHICS security standard, and Software-as-a-Medical-Device assessment.
  • An evaluation design with five KPIs, benchmarked against local and international evidence.

Key points

  • The decision is narrow and high-leverage: clopidogrel versus ticagrelor or prasugrel, guided by CYP2C19.
  • Evidence is triangulated from a UAE feasibility pilot, the European PREPARE trial, and an NHS England CYP2C19 stroke pilot.
  • Eight implementation risks are named with specific mitigations, including reference-database bias and consanguinity-driven allele-frequency shifts.
  • The recommendation is EGP-C1, a 12-month feasibility pilot, not an outcomes trial.

In this repository

  • essay.pdf: the full report, including the pathway diagram (Figure 1) and the data-fabric table.
  • summary.md: a written walkthrough, the six-row data fabric as a table, and the references.

Selected sources

  • Lee et al. (2022). CPIC guideline for CYP2C19 and clopidogrel therapy: 2022 update. Clinical Pharmacology and Therapeutics, 112, 959.
  • Swen et al. (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions (PREPARE). The Lancet, 401, 347.
  • Al-Mahayri et al. (2022). Pharmacogenomics implementation in cardiovascular disease in a highly diverse population. Human Genomics, 16, 42.

The full reference list is in summary.md.

Licensing

Original text, analysis, and author-made figures are licensed under CC BY 4.0. Cited works remain under their original copyright (see LICENSE).

AI assistance

AI tools were used for literature triage, drafting, and language refinement. All scientific claims, citations, and final conclusions were reviewed and verified by the author.


Author: Riya Shet. Analysis completed as part of MSc Health Data Science coursework. This repository is a cleaned version of an individual project.

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A health data science implementation plan for CYP2C19-guided antiplatelet prescribing in the UAE, covering the data fabric, clinical decision support, and governance.

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