Sequencing tumors in personalized cancer medicine

Núria López-Bigas, head of the Biomedical Genomics Laboratory at IRB Barcelona.

The precision medicine y personalized to tackle cancer are the most explored paths recently by specialists, and being able to prescribe the best treatment for the patient is the goal of a european project led by the Research Institute in Barcelona Biomedicine (IRB). The tool Cancer Genome Interpreter is the cornerstone of the project, and it is intended to be a central instrument in decision-making by the oncologistsso that each patient, regardless of the hospital in which he or she is diagnosed, receives the most appropriate treatment.

The project, which has a duration of five years, seeks to have Cancer Genome Interpreter fully implemented in the clinic. Núria López-Bigashead of the Biomedical Genomics Laboratory of the IRB Barcelonaexplains in Medical Writing that, until now, “the tool analyze a tumor sample the of liquid biopsy of the cancer patient, the entire exome or a group of genes is sequenced and the mutations that cause the tumor are identified. Some of these can inform what treatment is the most appropriate for the patient, as they can be biomarkers of targeted therapies”.


“Many mutations can be expressed in a tumor, we must select the decisive ones and make a decision among specialists”


This capacity of Cancer Genome wants to be improved to respond to a unmet medical needand López-Bigas bets on interpreting with more precision “these mutations and which may be related to response to therapy. Many can be identified in a tumor, so it is necessary to select those that are decisive and make a decision among the specialists”.

The project once morest cancer, divided into three phases

IRB has divided the European project into three phases in which all clinical partners and patients have a fundamental role. “The first step is that 17 project partners try the tool as we have it now to collect feedback on what you need in a structured and informal way. In other words, we will collect all your needs and from here we will design a new version of the tool”, says the researcher.

The second phase of the project will consist of testing the new version of the tooluntil it is spread by large hospitals and little. As confirmed by López-Bigas, “with the advances applied, a new clinical assessment of its operation, we will finish developing it and finally we will enter the last part of the researchwhere the tool will meet the needs of the clinic and can be extended to hospitals”.

Patient data, a source of learning

The involvement of patients from the beginning is a key piece so that the project ends up achieving success, thanks to all the information that can be collected regarding the mutations they suffer. “There is a series of information regarding mutations that we can learn through analyzing thousands of samples. If patients and hospitals can share the data that are being used to the clinic, we will have more information to be able to make a machine learning. Must raise awareness that your tumor-linked data has value and they can share them to improve the interpretation of the following patients”, confirms the specialist.


“If patients and hospitals share data that is used in the clinic, we will have more information to do machine learning”


Finally, the last hurdle that the project hopes to achieve, financed with €10 millionis the creation of a virtual committee of experts that can perform interpretations of the Cancer Genome Interpreter result in both large and small hospital centers. “After the prediction of the tool, sometimes we get to the point where there are doubts and you have to talk to the experts to help make a decision for the patient. This interpretation must be equitable and be accessible to all hospitals. We have clinical allies that meet various realities and there is a predisposition of the experts to participate in these meetings”, concludes López-Bigas.

Although it may contain statements, data or notes from health institutions or professionals, the information contained in Medical Writing is edited and prepared by journalists. We recommend the reader that any questions related to health be consulted with a health professional.

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