January 17, 2012 | last updated April 19, 2012 1:54 pm

MetroWest Firm Helps Interpret Human Genome

During a 12-year period in the 1990s into the early 2000s, researchers spent somewhere between $3 billion and $4 billion mapping the human genome, which encompasses three billion strands of DNA that make up a living organism's heredity. Now Westborough-based GenomeQuest has a software system that can basically do that same analysis for about $1,000 in a few days to a week.

The use of such information is endless. From analyzing causes of diseases to predicting which patients may develop them, to developing more durable and healthier agricultural products - so much can be learned by studying the genetic makeup of any living thing, said GenomeQuest President Richard Resnick.

It's complicated stuff, though. And the technology to analyze the data is still in early adoption by researchers and clinicians.

In an effort to nudge the industry along, GenomeQuest has supplied $120,000 in grants to six research organizations around the country - including a molecular diagnostics lab in Worcester.

Streamlined Data Delivery

Founded in 1999 in Paris, GenomeQuest is a venture-backed startup that now has about 40 employees, most of whom are in the company's Westborough headquarters.

Providing grant money to researchers has a two-fold goal for GenomeQuest: It will help distribute the company's product into the marketplace faster, and it will help researchers interpret this complex data quicker and more efficiently.

The more researchers, doctors and clinicians that use the GenomeQuest software, the better, Resnick says.

There are other ways to interpret human genome data, Resnick said, but they can either give researchers so much data that it's nearly impossible to go through it all, or it is broken up in "puzzle pieces" that must be reassembled to get clear information.

GenomeQuest researchers are trying to solve these proverbial needle- in-a-haystack problems.

"We want to aggregate all this data together, bring in all of this knowledge that is in there and present it in a piece of web-based software that people can actually use," he said. "It's cheaper, faster, and it can be used clinically."

One of the most promising uses of the GenomeQuest software is scientists being able to take samples of DNA, test it and use information from the genome to treat a patient.

That's the type of work that could be done in Worcester at the UMass Memorial Medical Center Molecular Diagnostic Laboratory. Founded in 2002 as a joint venture between the University of Massachusetts Medical School and UMass Memorial Health Care, the lab now tests up to 40,000 DNA samples a year, providing information to researchers and clinicians working on a variety of projects.

As part of that research, the laboratory's director, Dr. Edward Ginns, applied for a nationwide grant from GenomeQuest to use the company's software to analyze the genomic information lab researchers are collecting. Specifically, Ginns hopes to use the GenomeQuest software to explore causes and potential treatments for cystic fibrosis. Because there is so much data in the human genome, Ginns said, it's important to be able to extract only the data researchers or clinicians truly need to more easily manage the information.

"What we're hoping to do is to analyze many patients at the same time for the genes we're interested in," he explained.


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