22 May 2014

Genomic bioinformatics

IT in the service of biomedicine

Ekaterina Shlyk, X-mediaEMC, Intel, Parseq Lab and the Algorithmic Biology Laboratory of the St. Petersburg Academic University of the Russian Academy of Sciences celebrated the first anniversary of the opening of the EMC Research and Development Center in Skolkovo, as part of the IT cluster.

One of the main tasks of the center is to work in the field of biomedicine and genetics. According to Kamil Isaev, Vice President of EMC Russia and CIS, General Director of the company's R&D Center in Skolkovo, biomedical research activities are currently one of the drivers of world science, as nuclear physics once was, for example. And, just like nuclear physics, this field is system-forming in the sense that for its successful development, joint work of people of different specialties is necessary. In particular, now people who are traditionally far from both medicine and biology are actively working in the field of biomedical disciplines – mathematicians, programmers, system engineers, specialists in data storage and processing.

The task currently facing IT specialists working in the field of biomedicine is the integration of analyzed and systematized research results into clinical practice, because it is in this case that the data obtained will be of practical use, for example, to help cope with serious illnesses. But this, Isaev notes, is not a trivial task.

The main obstacle that arises in this case is the fundamentally different requirements for data storage that arise from IT specialists and employees of medical research centers. If the former choose openness and maximum availability of data, the latter are just more interested in private storage. The way out in this case can be a hybrid cloud, and it must be strictly stipulated which data will be available to everyone, and which will be accessed only by a strictly defined circle of people.

However, the issue of access is not the only difficult task that has to be solved.

Scalability is an extremely important issue. When sequencing only one genome, researchers receive hundreds of terabytes of data, and all this data needs to be stored in order to then use big data technologies to process the repeatedly obtained results and obtain data applicable in practice. That is, we are talking about storing petabytes of data, and the storage should be scalable and affordable.

An important parameter of an IT platform that solves biomedicine tasks are the functions of intelligent analysis of stored data, information security and, of course, ease of use of the final product.

The latter function, according to Alla Lapidus, deputy director of the Laboratory of Algorithmic Biology of the Academic University of the Russian Academy of Sciences, is the most important from the point of view of the end users of the solution – for example, doctors who can use the results of genetic research for the diagnosis and treatment of diseases. Simplicity and clarity are the key requirements that doctors place on the platform being developed. And, as Kamil Isaev assures, the developers, of course, have this requirement in mind and strive to make the solution not only as complete as possible, but also as simple as possible.

An IT solution, thanks to which doctors will be able to use genetic research data in the diagnosis of newborns, prenatal noninvasive diagnostics, ophthalmogenetics, may be released this year. EMC and Parceq Lab are working on it together. According to Alexander Pavlov, CEO of Parceq Lab, the company's activity – genomic bioinformatics – requires, on the one hand, a serious stock of data, and, on the other, technologies for their storage, processing and analysis. And from this point of view, partnership with vendors such as Intel and EMC allows you to make work faster and more productive.

But, adds Alla Lapidus, this is still enough. It is necessary to conduct serious educational work among doctors so that they understand why they need to use the results of genetic research in their work practice, explain what opportunities open up to them. And this, of course, cannot be done in a short time.

Portal "Eternal youth" http://vechnayamolodost.ru22.005.2014

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