On 4 February of this year, World Cancer Day, the ICARuS project (Automated Clinical Interpretation of the Results of Mass Genetic Sequencing), an RDI project being conducted by the Institute of Molecular and Oncological Medicine of Asturias (IMOMA) in conjunction with the Federal Institute of Technology of Zurich (ETH-Zurich) and financed by the Fundación María Cristina Masaveu Peterson (FMCMP), was unveiled in the IMOMA building in Oviedo.
The event was presided over by the Minister of Research, Science and Universities of the Principality of Asturias, Borja Sánchez. The presenters included José Luis San Agustín on behalf of the FMCMP; Ana Braña, Director of IMOMA; Dr Daniel Stekhoven, project coordinator from Nexus Personalized Health Technologies (ETH-Zurich’s personalised medicine platform); and Dr Juan Cadiñanos, Scientific Director of IMOMA and the project’s coordinator.
The objective of the project is to develop biocomputing tools that allow for the automation of clinical interpretation processes, the key to applying the new mass sequencing technologies. The new-generation DNA sequencing available at IMOMA has been a major step forward in studying complex genetically-based illnesses such as cancer, and it is the key to promoting precision medicine in our healthcare system. However, the vast amount of data it generates has created the need to improve and expand the associated IT resources.
The new sequencers can generate hundreds of gross gigabytes in just a few hours, and these data have to be stored, analysed and—most importantly—interpreted, and then their relevancy within the context of each patient’s illness must be determined. This last step, clinical interpretation, is currently the biggest bottleneck to the advancement of personalised precision medicine and a challenge that all institutions working in this field are facing. To overcome it, IMOMO in Asturias has teamed up with one of the most prestigious universities in the world, a leader in developing technologies like artificial intelligence.
At the press conference, after a brief introduction by Ana Braña, Borja Sánchez highlighted the importance of public-private cooperation and stressed that it should be promoted more intensely; José Luis San Agustín pointed out the support that the FMCMP has been providing IMOMA since it was founded in 2008; Daniel Steckhoven stressed the importance of a project on the cutting edge of personalised precision medicine; and Dr Juan Cadiñanos told the audience that this is not an isolated project but one that aims to continue both IMOMA’s work on RDI in biomedicine and its strategy of forging cooperative ties with world-class international institutions, such as the Wellcome Trust Sanger Institute in Cambridge and the Memorial Sloan Kettering Cancer Center in New York. Indeed, ETH-Zurich is considered the 6th highest-ranked university in the world and has produced 21 Nobel Prizes.
During the question-and-answer session, the media in attendance were interested in the way this project can contribute to improving the health of patients in general. Dr Stekhoven responded that both the biocomputing tools developed and the results obtained would be shared in scholarly publications and made available in public repositories, so they can be used to lower the costs and time associated with any patient’s clinical interpretation process.
The media also wanted to know the speakers’ opinions about the cancer rate in the populations of Asturias and Spain. Dr Cadiñanos responded that this rate could be lowered, since 40% of cancer cases can be prevented through changes in diet and habits. He also stated that family aggregations are found in 25% of cases, which could be evaluated in genetic counselling practices to determine the initial likelihood that the cancer emerged as the result of a hereditary predisposition to developing it, and that genetic alterations which lead to a significant increase in this predisposition can be identified in 5-10% of all cases. Recognising these genetic alterations enables cancer prevention and early detection to be adjusted by personalising and intensifying the measures needed in individuals who carry a relevant genetic mutation, and in some cases specific treatments can even be chosen.
In addition to cancer, IMOMA also specialises in the genetic diagnosis of hereditary deafness and blindness. The ICARuS project will develop tools applicable to any illness caused by genomic alterations, but with a special emphasis on these three pathologies.
4 February 2020. World Cancer Day