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A new study shows that gene tests can help prevent avoidable adverse drug reactions (ADRs), guiding precision medicine to make treatments safer and more effective. Researchers from Queen Mary University of London (QMUL) found that nearly 1 in 10 ADRs reported to UK medicines regulator are linked to genetic factors, with 75% of these involving three key genes: CYP2C19, CYP2D6, and SLCO1B1. These genes influence how the body processes or eliminates drugs.

Figure: Study methods and results overview. PGx, pharmacogenomics; ADR, adverse drug reaction.

Source: https://doi.org/10.1371/journal.pmed.1004565.g005

Most People Affected by Genetic Variants

Population studies have shown that nearly everyone (99.5%) carries genetic variants that can affect how they respond to medications. The study, conducted across Europe, found that using a pharmacogenomic test panel could reduce ADRs by 30%. Despite this promising result, it remains unclear how pharmacogenomic-related drugs influence the total number of reported ADRs.

To investigate this issue, a study published in PLOS Medicine on March 27 this year, analyzed over 1.3 million ADR reports linked to nearly 2,500 substances. The study revealed that 9% of ADRs were associated with drugs where genetic testing could guide risk management. Among these pharmacogenomic ADRs, 75% were linked to just three genes: CYP2C19, CYP2D6, and SLCO1B1. These genes significantly influence how the body processes or eliminates drugs.

Broad Access to Genetic Testing

Dr. Emma Magavern, lead researcher from the National Institute for Health and Care Research (NIHR) at QMUL, emphasized the importance of integrating genetic testing into routine healthcare.

She pointed out that the current NHS testing approach is limited. It focuses on specific gene-drug pairs. For example, it includes testing for dihydropyrimidine dehydrogenase variants in cancer patients to reduce toxicity. It also covers CYP2C19 variants for hypertrophic cardiomyopathy patients and testing after an ischemic stroke for patients taking Clopidogrel. She told Medscape News UK, “The call for more broad access to personalized testing for the safety and effectiveness of common medicines remains.”

Dr. Magavern believes in the need for wider implementation, especially in psychiatric and cardiovascular medications, which account for 47% and 24% of pharmacogenomic mitigable ADRs, respectively. She suggested that piloting genetic testing for these drug classes while focusing on the three key genes could significantly reduce preventable ADRs.

Expanded Panel Benefits Future

A survey led by Magavern revealed that 85% of respondents supported offering personalized prescribing to patients with multiple conditions. Despite this support, the NHS rollout remains limited, which some experts find problematic.

Professor Sir Munir Pirmohamed, from the University of Liverpool, acknowledged the study’s significance but cautioned against focusing solely on the three key genes. He noted that “Limiting to just three pharmacogenes would be an opportunity lost.”

Professor Pirmohamed further emphasized that adding more gene variants to a testing panel would not proportionally increase costs and that pharmacogenetic testing, if done once, could be stored in electronic patient records for future use. He concluded, “The beauty of pharmacogenetic testing is that it only needs to be done once if the data can be appropriately stored.”

While focusing on three key genes could reduce a substantial number of ADRs, experts advocate for broader genetic testing to cover more drug-gene interactions. Implementing comprehensive testing could offer detailed genetic profiling to support doctor’s diagnosis, enhance patient safety and improve the effectiveness of treatments.

About SENTIS™ Medication Guidance

SENTIS™Medication Guidance covering Lung cancer/ Colorectal cancer/ Gastric cancer/ GIST that assesses multiple variant types in a single assay by high-throughput sequencing combined with target region probe capture technology, including single nucleotide variant (SNV), Insertions Deletions (InDel), copy number variations (CNV), Fusion. The panel cover the gene testing targets of various drugs which is approved by the FDA, recommended by NCCN guidelines, involved in clinical trials. Providing targeted therapy medication guidance for the patients of lung cancer /colorectal cancer/gastric cancer/gastrointestinal stromal tumors.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

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