• Dr. Raymond Laure

CV

Dr. Laure Raymond is a laboratory geneticist and head of the Genetics Division at Eurofins Biomnis, a leading provider of specialized laboratory medicine in France.

Her academic background combined a PharmD and a research Master’s degree, followed by a residency in medical biology in Paris hospitals.

For over fifteen years, she has been actively involved in the development and coordination of clinical diagnostic activities, particularly in constitutional genetics. Driven by her passion for innovation and her practical mindset, she ensures that the projects developed with her teams are implemented swiftly while maintaining a high standard of medical service.

She works closely with academic and hospital partners to support their research and precision diagnostic projects. Among her recent initiatives is the extraction of pharmacogenetics information from exome sequencing data. Applied to patients with psychiatric disorders or kidney diseases, it enables a comprehensive genetic assessment, to personalize their care.

ABSTRACT

Exome sequencing is increasingly being used in clinical diagnostics to identify the genetic causes of specific phenotypes. Among the medical specialties requesting this analysis, nephrology and psychiatry have shown a particular interest in pharmacogenetic information. As a result, we deemed it essential to extract pharmacogenetic data directly from exome sequencing data.

In this presentation, we explain how we addressed the technical challenges inherent in this approach and emphasize the clinical opportunities it offers. Through a thorough method validation — including reference sample testing and cross-method comparisons — we demonstrated that high-quality pharmacogenetic results can indeed be obtained from exome data. This includes complex regions such as CYP2D6, where we successfully detected hybrid genes.

From a clinical standpoint, we assessed the value of this combined diagnostic and pharmacogenetic approach in both nephrology and psychiatry, and we will illustrate its benefits through selected clinical cases.

Accessing both diagnostic and pharmacogenetic insights from a single exome analysis offers a comprehensive view of the patient’s genomic profile, enabling both accurate diagnoses and tailored therapeutic strategies. This integrated approach represents a significant step forward in precision medicine and opens new avenues for individualized patient care.