Skip to main content
Premium Trial:

Request an Annual Quote

NHGRI Selects Biofortis’ Labmatrix to Manage Medical Sequencing Data for ClinSeq Program

The National Human Genome Research Institute has tapped BioFortis to handle the bioinformatics aspects of its ClinSeq project, an ambitious new study that aims to sequence the genomes of 1,000 individuals with a common disease.
NHGRI researchers required a software solution to manage the multitude of large-scale clinical and genetic data generated by the program. So Labmatrix — a translational research software package developed in close collaboration with scientists at the National Institutes of Health and other research entities — was chosen to do the job.
NHGRI will use Labmatrix to store, integrate, query, and report clinical and genomic data for the ClinSeq project, Ethel Rubin, chief scientific officer at BioFortis, told BioInform. The company did not disclose the financial terms of the agreement.
Labmatrix can be used as either a translational research information hub in a new establishment or integrated into other, existing systems. The system supports research and sample data culled from clinical investigations, translational research, and preclinical studies.
Rubin said that BioFortis had been collaborating with NHGRI for a number of years “to develop a software [package], make it commercially applicable and generically available for needs across clinical research.”
NHGRI has already been using Labmatrix as the central database for its intramural clinical research program, she said, noting that the institute is “sort of in a unique position” in its need for an enterprise clinical research system because of its focus on genomics rather than a specific disease area.
“They don’t focus on a single disorder. The only thing in common [in their research] is a hereditary disorder or some sort of genetic disorder,” she said. “They are not ophthalmic- or cancer-specific,” for example. “Applications [cut] across multiple therapeutic areas.”
NHGRI has had Labmatrix in place for some time and has only chosen to now go public with the news that it’s used for the ClinSeq study as well, Rubin said. The institute declined to comment for this article, however.
Rubin said that NHGRI plans to initially sequence 200 to 400 genes and grow from there. So far, researchers from the NHGRI, the National Heart, Lung, and Blood Institute, and other NIH institutes have enrolled about 50 participants.
With the help of Labmatrix, the NHGRI researchers will be able to produce reports, perform queries, study data management, and “really look at the clinical applications of genetic sequencing for healthcare,” Rubin said.

“The quantity of the data and the disparity of the data rate [was] increasing because of new high-throughput multiplex technology available for analyzing specimens and [which were] being used in clinical investigations. We are analyzing specimens in many, many ways and having to put it all together at the end of the day.”

In addition to NHGRI, Labmatrix has been in use at the National Eye Institute, the National Cancer Institute, Hackensack University Medical Center, and the University of California, San Francisco.
So far, researchers at NCI have used Labmatrix to analyze hundreds of thousands of pieces of data for a genotyping project that Rubin described as “one of the larger genotyping projects” that the company has participated in.
Labmatrix is able to merge clinical and molecular analytical data, and manage the lifecycle of specimen tracking from beginning to end, which Rubin said are key components for the ClinSeq study.
BioFortis President and CEO Jian Wang told BioInform that Labmatrix answers a real need for the project. He said that while there are many tools out there that will “support managing clinical information very nicely, and managing data nicely,” the user interfaces for these tools have been lacking. “Information management tools are fairly weak.”
Even so, the project will likely require additional software. Rubin, though, was unable to provide details of the project’s broader bioinformatics requirements.
Rubin said that outside of ClinSeq, BioFortis has had numerous inquiries about the use of its software for managing whole-genome sequencing data.
“Until you do all the processing and computation and analysis, you don’t know the number of loci …, ” she said. “Time will tell as we get and study the data. The NIH will do a lot in this area.”
Rubin predicted that the requirements of the translational research community will continue to drive Labmatrix adoption.
That was the idea behind the software launch from the outset.
“The quantity of the data and the disparity of the data rate [was] increasing because of new high-throughput multiplex technology available for analyzing specimens [that were] being used in clinical investigations,” said Rubin.. “We are analyzing specimens in many, many ways and having to put it all together at the end of the day.”

Filed under

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.