Integromics partners with FPGMX to develop low-cost methods for clinical genomics

29 February 2012

Integromics has entered into a partnership with the Galician Foundation of Genomic Medicine's (FPGMX) Professor Carracedo, a recipient of the European Life Technologies ‘Ion Torrent Visionary Winners Award’, for the development of inexpensive solutions for clinical genomics.

Based on the strength of its R&D work, the new partnership has been awarded a €1 million grant from the European Regional Development Fund and the Spanish Government for a project entitled ‘Advanced analysis and interpretation of low-cost next generation sequencing data for clinical applications (ApliClinics LC-NGS).

The interpretation of next-generation sequencing (NGS) data has been recognized as a major bottleneck in the adoption of personalized medicine, both in terms of cost and time. The ApliClinics collaboration has been designed to address the issues, at the bench and bioinformatics levels, being faced by the clinical labs trying to apply NGS technology.

The project aims to improve procedures and optimize tools to make the use of NGS faster in the routine healthcare environment, which will alleviate the current lack of applications critically needed by clinicians, as well as helping to lessen their workload.

The ApliClinics project opens a new field of application for Integromics and represents an ideal opportunity for the company to reinforce its commitment to the development of software solutions for personalized medicine.

“This will be the first time that Integromics will be working side-by-side with clinicians to bridge the gap between our NGS technology and how it translates into healthcare for patients,” said Eduardo González Couto, chief strategy officer, Integromics. “The synergy of the clinical genomic pioneers from the FPGMX and the expertise of the bioinformaticians we have at Integromics will undoubtedly help to accelerate the development of solutions for clinical genomics.

“Automated next generation sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer genetic testing to consumers. Producing the genomic data is no longer a problem, however, it is the analysis and interpretation of the data which has become the ‘new frontier’. In order to characterize and interpret the data for medical usage, novel bioinformatics tools are crucially needed.”

As Kevin Davies discussed in his essay ‘The USD 100,000 Genome Interpretation’, as the cost of sequencing continues to freefall it has become cheaper and faster for clinical genome labs to sequence a full exome of a patient instead of a panel of individual genes. However, there are neither enough bioinformaticians nor enough prepared healthcare professionals to analyse the large sets of genes in a genome or exome.

Even the professionals that can interpret genomic data would require weeks or months to analyse the data of one patient. In one of the most comprehensive clinical genome analysis (reported by Ashley et al., Lancet 2010; 375; 1525-35) the task of interpreting one genome involved more than 20 collaborators.

"The interest of the group, in addition to genomic research, is the practical translation of next generation sequencing to clinical routine casework,” said Professor Angel Carracedo, director of the FPGMX. “For this reason this project is essential for us. In this moment the bottleneck is not data production but to have bioinformatic tools allowing us to obtain reliable and accurate information of the variation found after DNA sequencing using NGS facilities, which is the main objective of this project."

Against this setting, and as NGS develops for specific cases in a broader clinical setting, it is hoped that the findings of the ApliClinics project, in terms of software and lab procedures, will bring low cost NGS technology closer to a clinical reality.

Integromics will be looking to announce the first results of the ApliClinics project in quarter four 2012.


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