- Dr. Robert Akkers
CV
Within this combined role, his work focuses on the clinical implementation of pharmacogenetics and targeted therapies, aiming to improve treatment outcomes through personalized medicine. He is particularly interested in how genetic variation influences drug response and therapy selection. By integrating molecular insights into routine diagnostic workflows, he contributes to the advancement of precision medicine and the development of more effective, personalized treatment strategies.
ABSTRACT
Pharmacogenetic testing is transforming drug therapy by enabling personalized treatment strategies, minimizing adverse reactions, and enhancing clinical outcomes. Over the past three years, we have routinely applied a comprehensive pharmacogenomics application powered by Next-Generation Sequencing (NGS) in clinical diagnostics. This high-resolution approach accurately detects clinically relevant variants in key pharmacogenes such as CYP2D6, CYP2C19, DPYD, and others.
Our NGS-based approach goes beyond conventional genotyping by capturing both rare variants and copy number variations (CNVs), thereby offering a more complete genetic profile. In our diagnostic population, we identified rare but clinically actionable variants in approximately 1–2% of patients per pharmacogene, underscoring the added value of NGS in precision medicine.
We also present the first results from the updated pharmacogenomics application (SOPHiA DDM™ Community Extended Pharmacogenomics Solution), now including relevant HLA genes. Additionally, we report on the new generation of SOPHiA DDM™ Platform, an upgrade that improves both technical performance and ease of use.