Improved Diagnostics Through Understanding Living Systems: Rethinking Biomarker Discovery

This book tackles the challenge of biomarker discovery. The lack of new, effective biomarkers contributes to medical errors, emphasizing the need for solutions. Rochat explores new solutions based on a reassessment of our understanding of life and diseases. He challenges traditional views from standard academic training to highlight the unique nature of each individual’s biological dynamics. The text proposes a new strategy for biomarker discovery taking advantage of a state‑of‑the‑art technology, i.e., high‑resolution mass spectrometry (HRMS), to perform comprehensive analyses of patient blood samples. This new strategy is feasible and involves not knowing which biomarker to determine prior to non‑targeted HRMS analysis. Comparison of compounds found in the patient’s plasma with plasma from healthy individuals could reveal outlier compounds and biomarker(s) indicative of the patient’s symptoms. As part of an individualized vision of healthcare, this strategy aims to identify unexpected patient‑specific biomarkers indicative of pathology. This could revolutionize diagnostic practices, reducing medical errors and the diagnostic odyssey.

About the Author

Bertrand Rochat obtained his PhD in Science in 1997 at the laboratory of the psychiatric hospital in Cery, near Lausanne, Switzerland. He pursued postdoctoral positions in France, the United States, Scotland, and Switzerland, before becoming a laboratory head at Novartis Pharma in Switzerland. In 2003, he joined the University Hospital of Lausanne (CHUV) to set up and manage the Mass Spectrometry Facility. He assisted medical doctors and biologists with their research and, in parallel, developed his own. He became a specialist in the quantitative determination of drugs and native peptides by liquid chromatography□mass spectrometry (LC-MS) in biological matrices; in intratumoral drug metabolism and disposition; in global and untargeted analyses in patient plasma samples; and in routine qualitative and quantitative analysis using LC-high-resolution MS instruments. He has published more than 60 original articles, editorials, book chapters, and reviews in these fields. With advancements in LC-high-resolution MS technology, he was among the first experts to promote its use for routine analyses in clinical laboratories. As a bioanalyst working with these instruments, he realized that a paradigm shift in quantitative bioanalysis was inevitable. Faced with pervasive conservatism, he decided to write this book to more actively push for that shift. Importantly, this change is not only based on technical progress but also reflects our current understanding of what life is and what diseases are. He sees it as a moral imperative for patient care, especially given the reality of misdiagnoses and diagnostic odysseys.