Integromics partners with FPGMX to develop low-cost methods for
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
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
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
“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.