As PGx genes are so challenging to assay, most tests today are focused on a narrow set of single nucleotide polymorphisms (SNPs) within individual genes.
Yet, there are still many genes that influence drug response that remain undiscovered ... and unlocking these genes holds huge potential for healthcare systems to be able to shift towards personalized medicine.
During the next year, the significant leaps in PGx will come from ambitious, larger PGx research projects that integrate health records, drug response and genetic data at the population level.
A notable example is the Estonian Biobank, which is using long-read sequencing for 10,000 participants to tackle some of the most complex PGx genes.
This project positions Estonia as a potential global leader in implementing precision medicine on a national scale.
New policies and frameworks will also aid the acceleration of PGX research. For example, the UAE’s Pharmacogenomics (PGx) Guideline published in June 2024, NHS England’s Pharmacy Genomics Workforce, Education and Training Strategic Framework published in January 2024 and/or the FDA’s Pharmacogenomic Data Submission guidance from 2023.