Development of non-invasive DNA based tests


LBEDD allows a disease to be detected at an early, asymptomatic stage, thanks to the analysis of circulating DNA, RNA, proteins, metabolites and lipids. This approach is an important aid in treatment choice and the precise follow-up of patients. The multiple benefits of liquid biopsy translate into improved treatment efficacy, quality of life and long-term patient survival while contributing to reducing health costs.

Liquid biopsy provides an insight into the biology and genetics of systemic diseases by simply collecting blood, saliva or other physiological fluids. Unlike tissue biopsies, sampling liquid biofluids is non-invasive, painless and represents no risk to the patient. With this method, the early detection of pathology is made possible before the symptoms are manifested. For example, metaplastic tissues release DNA fragments and modified proteins that are normally absent in healthy individuals. The detection of these molecules by liquid biopsy allows to identify the genes released by the diseased tissue and to quantify their modifications with respect to the healthy tissues. The techniques used to analyze the samples include genomics for the study of genes and proteomics, for the study of proteins, two advanced techniques of molecular diagnosis, reinforced by bioinformatics skills. In case of cancer, this approach facilitates the choice of therapeutic treatments and allows longitudinal monitoring to improve the patients' quality of life and their chances of survival. This type of method helps to lower health costs by avoiding invasive interventions and inadequate treatment. 

The center's specialists develop these tests using genomics and proteomics facilities. The high throughput sequencers, Illumina Nextseq 500 and Miseq available at SICHH are routinely used for whole genome-wide studies, transcriptomics and single nucleotide polymorphisms. 

In addition, three new industrial partners are contributing to the development of the LBEDD program thanks to their advanced technologies: 

  • The "QX200 Droplet Digital PCR" platform from Bio-Rad, identifies abnormalities of the genetic code, which can be recognized with an unmatched detection threshold.
  • The "Synapt G2-Si" mass spectrometer from Waters is an innovative and revolutionary instrument used for characterizing complex mixtures and molecules such as proteins.
  • The "Spark 10M", an automated high-speed plate reader, is made available to the center by the Swiss company Tecan. This device analyzes the efficacy of a therapeutic treatment in the context of several diseases, such as cancer or neurodegenerative diseases. In summary, non-invasive liquid biopsy analytics plays a crucial role in the diagnosis, treatment and monitoring of complex diseases such as cancer, chronic neurological or inflammatory diseases, by shedding light on phases that were so far difficult to identify.