05 November 2015

A recipe written in your genes

Celia Luterbacher, Julie Hunt
Translation into Russian and adaptation: Nadezhda Capone
"News of Switzerland" with the support of Heddema Communications, Zurich

In recent years, Switzerland has been actively developing innovative medical technologies based on in-depth knowledge from the field of genetics and on the unique capabilities of modern computing systems. The Swiss pharmaceutical industry, one of the most powerful in the world, intends to increase its investments in these technologies, seeing them as a promising object promising huge profits and yet unknown breakthroughs in the field of healthcare.

The great Hippocrates claimed for good reason that "it is not the disease that needs to be treated, but the patient." What was the fruit of the enlightenment of the mind of a brilliant doctor and thinker is now fully confirmed by modern science. And in fact: all people are different, each person is unique, which means that the same diseases that occur in different people can occur in completely different ways.

Traditional methods of treatment based on the "average temperature in the hospital" have a clearly defined limit of effectiveness. A qualitative breakthrough is possible here only with the use of methods of the so-called "personalized medicine", an innovative healthcare industry that has emerged recently at the intersection of medicine proper and technologies for collecting, processing, analyzing and using so-called "big data".

"The causes that cause people, for example, cancer, are infinitely diverse, and these causes, in any case, are much more than was thought until quite recently," says Silke Schneider, executive director of the Expert Center for Personalized Medicine in Zurich, a structure created in the format of a joint project by the University Zurich and the Zurich Higher Technical School (ETH).

Genetics and Computer scienceThe emergence of the so-called "personalized medicine" became possible thanks to two fundamental technological breakthroughs.

The first breakthrough was made in 2003, when scientists were able to decode the human genome for the first time. The second one is being carried out now before our eyes and in this case we are talking about a qualitative increase in the computational performance of modern computer technologies.

The accumulation of significant amounts of, for example, genetic information with its subsequent processing by "big data" analysis methods already allows doctors to qualitatively improve diagnostics, avoiding unnecessary trials and dangerous medical errors, that is, situations that are still characteristic of modern healthcare, especially where it comes to oncological diseases.

"In fact, there is no "lung cancer" as such, but there are thousands of different types of cancers affecting the lungs," says Jurgi Camblong, co—founder and CEO of Sophia Genetics, located near Lausanne.

Created with the support of the Lausanne Federal Polytechnic School (EPFL), this startup company has already created a network of more than 80 clinics across Europe using a specially developed software platform that allows collecting and analyzing patients' genetic data in a mass format.

New market nichesThe pharmaceutical industry in Switzerland is one of the most developed in the world.

The market capitalization of only the 10 largest Swiss chemical companies reaches a total of 144 billion francs. Nevertheless, competition in the global market is becoming increasingly fierce, which means that even such a giant as the Swiss pharmaceutical industry must constantly look for new niches and create new products and technologies that are in demand by consumers.

Innovative medical technologies arising on the basis of interdisciplinary approaches can just become such a "lifesaver" for her. We could, for example, talk about technologies that allow us to produce medicines that are precisely "tailored" to the characteristics of the organism of this particular patient, for which such a special science as "pharmacogenetics" has already been invented. Scientists say that it has a great future, and, importantly, the same thing is claimed by marketers.

Many Swiss pharmaceutical companies are already using arrays of genetic data in order to create so-called "point" drugs. They can be compared to a suit not bought in a ready-made dress store, but made to order exactly according to the figure. Thanks to this approach, we have already received innovative drugs at our disposal that have no analogues in the world," says Zara Käch from the inter—industry organization Interpharma, representing the interests of Swiss pharmaceutical corporations.

As you can see, "pharmacogenetics" really has significant scientific and market potential. Anyway, the Swiss companies "Roche" and "Novartis", the world's leading manufacturers of drugs for the treatment of cancer, have already included the so-called "accurate" or "personalized" medicine in their business models and business plans. 

Novartis even calls this promising area "a key element of its portfolio of anti-cancer drugs," and in a recent interview with the Swiss French-language newspaper Le Temps, vice president of Roche Dietmar Berger said that 70% of cancer drugs in his concern necessarily undergo a genetic test, the concept of which is based on on the principles of "precision medicine".

The "captains of the Swiss pharmaceutical industry" do not skimp on promising investments. So, in 2015 alone, the Rosh concern spent one billion dollars, acquiring, for example, a blocking stake in the American biotech firm Kapa Biosystems and also buying a company from the USA, Foundation Medicine Inc., into ownership.

In connection with these purchases, the executive director (COO) of this company, Roland Diggelman, recently stated that the technologies developed, in particular, by Kapa Biosystems were acquired as part of achieving the strategic goal of the Swiss company, which is "to provide our customers with access to technologies created, including based on arrays of data obtained as a result of decoding the genomes of patients."

And in June 2015, the companies "Roche" and "Novartis", with the participation of the program "NCI-Match", developed by the American "National Cancer Institute" ("NCI"), implemented a project with the participation of 2,400 American clinics, within which mass data collection was carried out, designed to help establish the production of drugs in the future, exactly corresponding to the characteristics of certain types of cancer.

Data is power!The CEO of Sophia Genetics, Jurgi Kamblong, is concerned that Switzerland and Europe are still noticeably lagging behind the United States where it comes to the development and market implementation of products and technologies obtained using patient genome decoding data.

At least, this lag is especially noticeable among biotech startups that require the involvement of serious venture (risk) capital.

"The main difference between the USA and Europe is that the USA is ready to go much faster, they have more money, and the ambitions of the Americans are much more audacious," says Jurgi Kamblong. "The quality of end technologies in Europe is usually much higher, but here manufacturers tend to endlessly achieve the perfect quality of the product and only then throw it on the market. But this is the wrong way, because the market itself is able to clearly signal when a particular technology will be ready and when it should be put on sale."

Jurgi Kamblong believes that the true value of personalized medicine lies not so much in advanced medicines as in the collected data sets themselves. Moreover, the more such data gets at the disposal of doctors, the more accurate the diagnosis becomes. "In the past, a doctor, having discovered some genetic mutations in a patient, could not know for sure what these mutations were and what to expect from them, he could not know whether they were benign or not," Yu says. Camblong.

"Today, based on the collected information, you can make a decision with much higher statistical accuracy, classifying a mutation as a possible source of a particular disease in the future. Thus, nothing passes and is not lost without a trace, information accumulates, algorithms "get smarter", and both doctors and patients benefit from this."

(Bio)banking resourcesVincent Mooser has worked in the pharmaceutical industry for more than ten years.

Today he holds the position of director of the so-called "Biobank", created in Lausanne on the basis of the local University clinic (CHUV). This "Biobank", according to him, is at the same time a database collected with the permission of patients, a structure that protects personal information and a scientific institute conducting fundamental clinical research, and this is the uniqueness of the "Biobank".


He has been collecting DNA samples from CHUV patients since 2003. As a rule, three out of every four patients agree to provide their data for entry into the "Bank". As a result, DNA images of almost 21 thousand people are now stored here. The interpretation of the obtained genetic data should help the Swiss healthcare system to literally "see through" and see each person individually, with all his physical, genetic, physiological and other features, approaching the ideal of "personalized medicine".

The problem, however, is that decoding the sequence of the human genome is still a very expensive business. The cost of creating a "genetic map" of a patient can reach up to 1 thousand francs, however, experts are convinced that with the development and mass introduction of this technology, its cost will begin to fall.

Decoding the genomeThe human genome, that is, the totality of hereditary material contained in one cell, consists of about three billion "letters" or "nucleotides".


Taking into account the fact that each chromosome is represented in two copies, the total number of nucleotides reaches six billion.

Decoding or "sequencing" of individual DNA, that is, determining its nucleotide sequence, allows doctors to fix the particular characteristics of a particular patient, find out his predisposition to certain diseases, form treatment strategies that are precisely calculated taking into account his unique differences.

Data securityThe collection, analysis and use of personal genetic information is a very complex matter, connected, among other things, with significant risks in the field of ensuring the inviolability of private data.


The data bank with such information can be hacked by hackers, therefore, potential discrimination of people with an alleged genetic predisposition to certain diseases is not excluded.Currently, the information contained in the Lausanne Biobank is encrypted using special software developed jointly by CHUV and the Higher School of Technology of Lausanne (EPFL).


By agreeing to the entry of their DNA samples into the Biobank, patients sign a special contract. Scientists, in particular, receive the right to use this data for future research projects, and patients receive guarantees of the inviolability of personal data.

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05.11.2015
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