The Health Valley builds the iPhones and AppStores of genomic medicine

When asked about the potential of personalised medicine, scientists and entrepreneurs as well as biotech and pharmaceutical company managers in the Health Valley of Western Switzerland cannot hide their excitement. Take Jonathan Knowles, for example. As head of research at giant pharma group Roche between 1997 and 2007, he might have quietly retired to sail on Lake Geneva. Instead, he has accepted a professorship in translational medicine at the Swiss Federal Institute of Technology of Lausanne (EPFL). And since May 2010, he has been Chief Scientific Officer of Caris Life Sciences, a US company with research labs in Lausanne. “That is because the revolution that I and others have been working on for the past 20 years is already starting for cancers and is on the verge of beginning for others diseases,” explains Knowles. “Treatments must be now tailored to individual patients.”

His enthusiasm is shared by many in the Health Valley. In canton Neuchatel’s Neode science and technology park, entrepreneur Didier Mauroy claims: “The future of medicine is in prediction.” He has just founded Biofield to develop cheap molecular diagnostics to forecast the risks of cardiovascular diseases. In the EPFL science park, serial biotech entrepreneur Rudi Pauwels adds: “With prediction comes prevention, with all the medical and social benefits it implies, including for healthcare economics.” Personalised, predictive and preventive. Those are the three pillars of the coming revolution of personalised medicine. And if the Health Valley is so eager to embrace it, it is because its traditions as well  as its recent initiatives have prepared it to seize the numerous opportunities offered by this paradigm shift. Molecular diagnostics at the centre

“Here you find all the knowledge and know-how needed for personalised medicine,” says Stavros Therianos, the founder of Diagnoplex, an anti-cancer company developing companion diagnostics. “We have both the scientific content and the new diagnostic technologies that need to merge in order for personalised medicine to come true.” Those conditions can be traced back to the centrepiece of personalised medicine: molecular diagnostics.

In the follow-up to the unravelling of the human genome in 2000, scientists have discovered not just thousand of genes but also proteins and other molecular variations that signal specific metabolic characteristics in individuals or group of individuals. Those variations can be associated with diseases to create biomarkers. Those biomarkers can be detected in order to diagnose illnesses earlier or to treat patients in a more specific – or personalised – way. Hence the need to find and characterise these biomarkers to form an entirely new information content base for diagnostics. And consequently, the need to create technologies that democratise molecular diagnostics to make them routine tests.

No one knows the challenges better than Jonathan Knowles. When in Roche, he oversaw the launch of Herceptin. Today this anti-cancer drug is still the best example of the potential of personalised medicine. Herceptin is highly efficient against breast cancer but only for around 20% of women who carry a specific gene variation. So the treatment is associated with a molecular diagnostic test to detect this specificity. It is prescribed only when its efficacy is predictable. Content versus devices?

Unfortunately, most of the time biology proves to be more complex than a single relation between one molecular marker and an  efficient drug. “Some diseases like cystic fibrosis are caused by single gene mutations but most are due to smaller genetic risk factors,” explains Knowles. It means scientists have to discover not only one biomarker but many. It is those molecular signatures that will signal a disease and guide physicians to determine the best treatment. This complexity has given rise to two types of personalised medicine companies. Some are looking at new biomarkers but use established diagnostic procedures in order to validate them. Others are developing new diagnostic instruments. In order to validate those new diagnostic platforms, they still concentrate on established tests to prove that their detection methods are stable and reliable enough to allow prediction and diagnosis.

Thanks to prominent medical research centres, particularly in its university hospitals (see the profile of Stylianos Antonarakis, page 25), but also thanks to the tradition of precision and miniaturisation of its engineering schools, the Health Valley has given birth to both types of company. For example, Diagnoplex is developing a non-invasive test for colorectal cancer based on a novel biomarker. Ayanda is on its way to commercialise a diagnostic based on a biomarker for ovarian and breast cancers. And Caris is about to launch four blood tests detecting biomarkers for early diagnosis of prostate, colorectal, lung and breast cancers.

The research into new biomarkers in Western Switzerland is also benefiting from the emergence of service companies in that field. For example, in Geneva, Fasteris has become a world leader in the field of high-throughput sequencing. On the devices and instruments side of molecular diagnostics, innovations are also thriving. In Monthey, engineering company DiagnoSwiss has licensed its highly sensitive biosensor technology based on electrical properties to clients such as BioMérieux. Biocartis is about to launch a multiplexing test device that may make molecular diagnostics at least ten times cheaper than today. Augurix has already reach points of care with a rapid test for gluten intolerance based on three biomarkers.Convergence in oncology

“When their discoveries and their technologies are firmly established, those companies will converge to make new molecular diagnostics a routine technique in medicine,” predicts Stavros Therianos. The chances are this will happen first in oncology. As Doug Hanahan, director of the Swiss Institute of Cancer Research (ISREC), explains: “Cancer is an expansionist disease. Unlike diseases that destroy cells and therefore biomarkers, cancer cells became dysfunctional. Their signals could be detected through biomarkers or more likely groups of biomarkers.”

This specificity of cancers is already allowing personalised treatments. According to Michel Aguet, molecular oncology professor at ISREC, “about one hundred of the anti-cancer drug class based on kinase inhibitors are currently in clinical trials. They are all associated with molecular diagnostics that identify entire biological pathways.” At the University Hospital of canton Vaud (CHUV) neuro-oncologist Roger Stupp has recently identified a biomarker to predict which patient groups affected with gliomas (brain tumours) will respond or not to certain chemotherapy. “While historically anti-cancer drugs are efficient for only 20% to 30% of the patients, we have reached 70% in some trials at Caris,” adds Jonathan Knowles.

The applicability of personalised medicine to cancer is triggering all kind of initiatives in the Health Valley. For example, EPFL and CHUV are setting up a new oncology centre in order to bring researchers and clinicians closer together and thereby accelerate the development of treatments for patients. In 2011, Geneva will inaugurate a “genomic clinic” to democratise gene sequencing. Because, as Jonathan Knowles predicts, “what is already a reality for cancers will also apply to other therapeutic areas like cardiovascular, inflammatory and neurodegenerative diseases.”Crossing the chasm

Still, before most drugs become personalised thanks to democratised molecular diagnostics, there are huge chasms to be crossed. Beyond ongoing science and technology developments, one is of an economic nature.

Since the beginning of the Industrial Revolution, medicine has focused on standardised therapies. Drugs development, in particular, was based on epidemiological studies of large groups of patients. Family medical backgrounds, environmental and behavioural factors have always been included by physicians to tailor a therapy to a specific individual, but molecular biology allows much more systematic sub-classification of patients. And so what about the one-size-fits-all drugs model that produced pharmaceutical blockbusters and their billion of dollars in revenues?

Leading pharmaceutical companies in the Health Valley are actively preparing for that coming change. After the success of Erbitux with its companion diagnostics to detect the KRAS gene mutation in cancer patients, Merck Serono’s president emphasises that the company’s vision is the development of targeted cancer drugs by identifying predictive markers. Others are investing accordingly, as exemplified by Debiopharm’s recent investment in Biocartis.

“One has to listen to what the market demands,” explains Pietro Scalfaro, director of the Diagnostics Unit of the Lausanne-based company. “We have developed recently a drug against hepatitis C that is now licensed to Novartis for clinical trials. This drug’s efficacy is associated with a biomarker for diagnostics. It is not on the market yet but we have demands from physicians for that test in order for them to better prescribe the current standard cure.”Scalfaro compares Debiopharm’s investment in Biocartis with Apple. “The instruments you already find in large research centres are not suitable for the routine tests patients and physicians need. Biocartis is like the iPhone; it will be able to test for existing and new biomarkers a bit like apps from the Appstore.”

Scalfaro does not believe molecular diagnostics will end up in every pocket. But like many in the field of personalised medicine, he thinks that this model will be imposed by the constraints of healthcare economics. “Reimbursement of inefficient therapies is less and less tolerated by health insurers.” The very logic of efficiency of personalised medicine makes it inevitable.



Western Switzerland is home of an icreasing number of personalised medicine companies.

Caris Life Sciences reaches the market

As a renowned pathology services in the US, Caris diagnoses about 800 000 patients a year. Two years ago, it launched Target Now, a complete molecular cancer diagnosis to help clinicians predict which drug or cocktail of drugs has the best chance of working in specific patients based on the molecular profile of their cancer.  This year it developed a new molecular diagnostic platform able to detect even early-stage cancer (prostate, colrectal, breast and lung) from one millilitre of blood.  Caris has established its first lab outside the US in Lausanne and plans to increase its R&D there next year.High precision at Diagnoswiss

Founded 10 years ago as a spin-off from EPFL, Monthey-based DiagnoSwiss is licensing its diagnostic technology to partners. Together with microfluidic polymer cartridges that reduce the size of samples, the company has developed highly sensitive electrochemical biosensors as an alternative to elecrofluorescence technologies. According to managing director Frédéric Reymond it allows measurement “in smaller concentrations without losing the quality of signals”.Diagnoplex’s non-invasive test

Colerectal cancer can be detected with existing techniques but the fact is that only 20% of patients do those tests because they are either uncomfortable or not accurate enough. Thanks to collaborations with Curzio Ruegg and Gian Dorta, two associate professors at the University of Lausanne, and Swiss Institute of Bioinformatics group leader Mauro Delorenzi, Diagnoplex has developed a molecular diagnostic that requires only a blood sample from the patient. After a feasibility study involving 200 patients, it is entering into a large clinical study involving 1400 patients. The company is aiming for a CE marking in about a year.

Fasteris superfast genome sequencing

In Geneva, Fasteris has risen to become a major world player in the field of high-throughput sequencing. Its services range from full genome and transcriptome to small RNA sequencing for clients both in research and pharma that want to identify biomarkers associated with genetic as well as multifactorial diseases. Fasteris uses state-of-the-art instruments developed by Illumina (in 2006 it became Illumina’s first client). That is because the Fasteris’s founder, Laurent Farinelli, is also the co-inventor of the technologies developed and commercialised today by Illumina. Back in the 1990s he invented the DNA colony technologies that dramatically accelerated gene sequencing. While with classical techniques it takes two hours to sequence 1,000 bases, Fasteris can sequence 280 billion bases within 8 days on one instrument.

Ayanda’s early ovarian cancer detection

Ayanda Biosystems is a technology development company that was founded in June 2001 as a spin-off from EFPL in Lausanne. It is developing a novel blood-based test for the early detection of gynaecological cancers, notably breast and ovarian cancers. Results from their recent study with over 200 blood samples are highly encouraging and confirm the potential of their biomarker. A larger clinical validation study is underway for 2011 in order to finalise test parameters and gather additional data for CE marking.  Augurix reaches the points of care

Founded in Geneva in 2006, Augurix has just opened a new laboratory in the Health Valley to produce its rapid tests for gluten intolerance. For patients suffering celiac disease, it has transformed a long diagnostic procedure into 15 minute-tests at points of care, based on blood samples today and saliva in the future.

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