Data projects boost precision medicine in Spain
A growing number of physicians work with precision medicine to approach and manage diseases. Yet finding experts who can truly define what this new field is remains a complicated task, as the concept encompasses a wide variety of disciplines and topics, according to Jesús María Hernandez Rivas, a leading haematologist at Salamanca University Hospital. “Precision medicine is such an ambiguous concept. It’s a completely multidisciplinary approach, which covers many areas. You can do precision medicine when dealing with tumour alterations, but also when working to define patient characteristics at the time of choosing therapy. This makes our understanding of the field much more challenging,” he said. There is one common determinant to all precision medicine initiatives though – they all feed on big data.
Improving rare diseases diagnosis
Big data management is the power pump of Mendelian, a search engine that collects and sorts out knowledge of genetic rare diseases to expedite their diagnosis. Rare diseases affect as many as 6% of the population, but each of these conditions is individually rare, which complicates and often delays treatment onset. “There are more than 10,000 reported individually rare diseases. As a physician, you don’t know these pathologies. Maybe you will meet one in your career, and when you do, you won’t know what it looks like,” Mendelian CEO Ignacio Hernandez Medrano said.
Diagnosing rare diseases can take from seven to 10 years, a time frame Medrano’s team tries to narrow down by providing physicians with information they simply do not have the capacity to consult and, especially, select. “There’s myriad of public databases out there, in which doctors upload their new discoveries. The problem is that they are so big that no one has the time to read through all of them.
“The human mind cannot take care of all this. So we gathered all these results, put all the data together and run algorithms to make the data more accessible to doctors,” said Medrano, who is a neurologist at Ramón y Cajal Hospital in Madrid. Mendelian uses technology that can cope with huge amounts of data on gene variants, clinical features and other information, and filter them by items that are clinically relevant – age, gender or inheritance – all the while taking into account the biochemical routes.
In the process, Medrano and his colleagues found interesting results. “Using mathematical calculations we’re inferring that genes may be causing diseases just because they are related in nature and physiology, even though no previous research has shown it,” he said.
The young company is now trying to benchmark its services comparing synthetic patients against real patients, who have previously been diagnosed. “Our accuracy is very high. Out of a selection of 20 at risk genes, one turns out to be the actual gene causing the disease,” he said.
Over the past 6 months, 5,000 people have visited the platform each month, most of them geneticists, paediatricians, internal medicine doctors and specialists from every discipline. Medrano expects this number to rise in the next few months, as he opens the service to patients and genetic blood tests become cheaper and more available. Rivas finds Mendelian interesting to study any genetic disease. “It will be a very interesting instrument to use in the clinical setting and it will be important for rare diseases management in the future,” he said.
Gathering data on haematological tumours
Rivas is also co-ordinator of HARMONY, a European platform for the study and discovery of the most efficient treatments for haematological malignancies. HARMONY, which is part of the Innovative Medicines Initiative (IMI2), aims to assemble all the stakeholders in the field and set up a data repository to gather all the knowledge acquired across the EU.
“Having such a repository will help ensure that we are using quality data. Patients with leukaemia or lymphoma are really complex and we produce a huge amount of data on these diseases. However some of this data is not easy to manage or may not be relevant,” Rivas said.
HARMONY researchers focus on collecting impacting results in every EU country, a task made easier since they have already been sorted out nationally, by co-operative groups such as PETHEMA and GELTAMO in Spain, GIMEMA in Italy, HOVON in the Netherlands and MRCI in the UK.
This ability to organise results on the local level is typical of haematology, according to Rivas, and it will help set up European criteria on these rare malignancies. “Haematology is a different story inside the hospital. We have very few patients and full-time dedication from our physicians. Working in co-operative groups for the past 20 years has enabled us to already collect high quality data,” he explained.
Harmonising data to boost targeted therapy
Sorting out meaningful data on patient characteristics will be important in finding new cures and could prove more significant than any other findings, Rivas believes. “Finding a way in which we can define clinical, biological and molecular patient characteristics will be much more important than any other outcomes.
“Every time the industry launches a project, they need a new database, with new data collection. Just putting together all the data from different projects inside a repository will help tell stakeholders what parameters they need to include depending on the disease they are working on,” Rivas said.
One of the major issues in big data collection is heterogeneity of sources, he added. “This is just a nightmare. We lose a lot of information when we don’t gather and harmonise data.”
In the era of next-generation sequencing and genetic knowledge of the genome and cancer genome, data must be gathered to better characterise disease and improve targeted therapy.
“These kind of studies cannot be conducted on a national or regional level, and they must include everyone who is concerned," said Jesús María Hernandez Rivas, a leading haematologist at Salamanca University Hospital
International studies that have a comprehensive approach are the best way to advance knowledge of rare malignancies, Rivas believes. HARMONY’s added value is that it involves all stakeholders in haematological tumours, including the industry, which funds 50% of the project, and patient groups, who are the heart of the project.
“These kind of studies cannot be conducted on a national or regional level, and they must include everyone who is concerned. We can have a general idea of what is going on in Spain by using data from co-operative groups, but the prevalence of these diseases is so low that we don’t have enough patient data. By using only your data you can publish in scientific journals, but the reliability of your results is not strong enough.”