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Next generation massive sequencing comes to Barcelona to enhance precision personalized medicine

Some months ago, the genetic analysis of 4,000 patients led to the first molecular consensus in the fight against colorectal cancer. This demonstrated the potential of massive DNA sequencing to improve personalized medicine, whether to monitor tumor progression through techniques like the liquid biopsy or fight microbial resistance to antibiotics.

Since the completion of the Human Genome Project, researchers, doctors and patients have placed their hopes in a technology that would allow us to explore and go further than the causes of a given pathology. Improving conventional diagnostic techniques, or improving individualized therapies are just a few of the advancements that massive sequencing has achieved in little more than a decade.

Source: Pixabay

Current DNA analysis techniques make it possible to analyze nearly 600 nucleotides, a capacity that could soon be overcome by the next generation of sequencers, capable of reading up to 20,000 nucleotides. The Vall d’Hebrón Research Institute (VHIR) has presented the new 4th-generation platform of massive DNA sequencing (also known as NNGS: Next Next Generation Sequencing), that Roche Diagnostics has decided to test for the first time on the Vall d’Hebrón hospital university campus.

According to Dr. Rafael Esteban Mur, head of the research unit and Hepatic Disease Department of Vall d’Hebrón Hospital, ‘”we’ll be able to analyze genomic systems of high variability, including viruses, bacteria and tumor cells,” He believes that the NNGS platform “will make it possible to properly stratify patients and choose the most precise treatment in every case,” This massive DNA sequencing technology will be validated for the first time on the VHIR premises, following development of the machinery by Roche. Mur’s group was chosen based on their experience in the development of an application that allows the classification of types and sub-types of hepatitis virus, in addition to detecting mixed infections and identifying the mutation of these viruses, which are resistant to antiviral treatments. 

Source: VHIR

Once the team completes the validation of this new DNA analysis technology in early 2017, the goal is for the tool to be put to use in other areas of the VHIR, and transferred to other centers such as the Vall d’Hebrón Institute of Oncology (VHIO) the Hospital del Mar, the Bellvitge Biomedical Research Institute (IDIBELL), the Catalan Institute of Oncology and the IrsiCaixa AIDS Research Institute. This group of R&D centers has created a consortium to explore the potential of fourth-generation massive sequencing in the diagnosis of infectious agents such as viruses and bacteria, and the development of this technology in oncological diagnosis.

Specifically, in the field of microbiology, the VHIR and IrsiCaixa will be responsible for determining the specific sub-type of the Hepatitis B, C, Delta and E viruses, the HIV virus, the flu virus and others of interest, such as enterovirus or zika. They will also attempt to learn more about predictive factors of response to antiviral treatments, to improve the so-called personalized medicine. In the oncological realm, the VHIO and Hospital del Mar researchers are seeking to validate certain somatic mutations in different tumors, such as ovary, colorectal, breast and prostate. On another note, IDIBELL researchers aim to develop “a test that determines the genetic abnormalities present in a patient’s tumor sample,”

The new VHIR platform, created by Roche Diagnostics, is based on a technology known as SMRT (Single Molecule Real Time Sequencing). This tool makes use of DNA’s natural replication process to analyze thousands of samples at the same time, a leap that is quantitative as well as qualitative, and that can improve the study, diagnosis and treatment of pathologies as relevant as cancer or infections. This R&D project will last three years, thanks to an investment of over eight million euros, in which the Center for the Development of Industrial Technology (CDTI) has taken part.