Precision Medicine

This group, led by Prof. Jacques Fellay, focuses on translational genomics research and on demonstrating the clinical value of human genome analysis in medicine. The group also aims to set up and to operate a new personalized health clinic. The group’s research focuses on: the development and application of polygenic risk scores for complex diseases, pharmacogenomics, the integration of genome analysis in healthcare, and societal acceptance of genomics and artificial intelligence in medicine.

• Thorball CW, Fellay J, Borghesi A. "Immunological lessons from genome-wide association studies of infections". Curr Opin Immunol. 2021 Oct;72:87-93. 
• Gosselin RD. "Insufficient transparency of statistical reporting in preclinical research: a scoping review". Sci Rep. 2021 Feb 8;11(1):3335. 
• Jaccard E, Redin C, Girardin F, Waeber G, Fellay J, Vollenweider P. "Pharmacogenomics: a toolbox to improve drug prescription". Rev Med Suisse, 2020.
• Zhang Q, …, Thorball CW, Redin C, Fellay J, …, Casanova JL. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4570. 
• Gosselin RD, Redin C, Ristorcelli E, Raisaro JL, Fellay J. "Precision medicine: at the crossroad of molecular biology, information sciences and humanities". Rev Med Suisse. 2020.

• Understanding and preventing cardiac arrest through genome analysis (supported by the Migros Pioneer Fund): sudden cardiac death (SCD) is a major cause of death and is very difficult to predict, although its frequency is higher in patients with coronary artery disease.  Our research aims to identify genetic variation associated with SCD from analyzing patient genomes. When relevant variants are identified, the results are communicated back to study participants following a process set up by the CHUV and approved by the Cantonal Commission of Ethics on Human Research.
• ImCORE Germline Genomics initiative - iGGi (supported by Roche / Genentech): an international project aiming to establish the role of germline DNA variation in determining the efficacy and toxicity of cancer immunotherapy. We analyze the DNA of patients undergoing immunotherapy to identify biomarkers that can help to predict the efficacy and toxicity of these treatments. An improved understanding of the genome represents a key step towards optimizing personalized oncology treatment.
• Potential value of the genome in drug prescription - a comparison between hospital and population cohorts (supported by the Leenaards Foundation): genetic variation is associated with individual differences in response to medication. A better understanding of this association could improve the efficacy of prescribed medications and help to reduce the incidence of side effects. This project aims to combine DNA analysis with medication prescription history to evaluate the consequences of genetic variation for medication side effects, both in a hospital context (using data from the CHUV genomic biobank) and in an ambulatory healthcare setting (using resources from a collaboration with the CoLaus/PsyCoLaus study).