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Jul 3, 2012

Harvard Professor Rides Genomics' Third Wave

New Firm Aims to Advance Personalized Medicine through Precision Diagnostics

Harvard Professor Rides Genomics' Third Wave

Mark S. Boguski, M.D., Ph.D., created Genome Health Solutions with an aim to “finally bring the benefits of genomics to patients.” [Andrzej - Fotolia.com]

  • A new health services business is looking to catch what its founder sees as an emerging third wave in the clinical application of genomics.

    “We understand the clinical market space, and we understand the technology market space, and we try to bring those two together in the most productive way possible,” according to Mark S. Boguski, M.D., Ph.D., F.C.A.P., a faculty member at Harvard Medical School’s Center for Biomedical Informatics and Beth Israel Deaconess Medical Center.

    The clinical market is Genome Health Solutions’ primary goal, though biopharmas could sign up, to the extent they are interested in using diagnostics to shape drug development. One important submarket for the company is cancer, given the 1.6 million new diagnoses projected in the U.S. this year by the American Cancer Society. About 80% of patients are treated outside big academic medical centers or cancer centers, Dr. Boguski said: “The market is quite large, and I think we’d like to clearly establish, within the next year, the proof-of-concept for what we’re doing, and start to finally bring the benefits of genomics to patients.”

    Services to be offered by Genome Health Solutions include genomic medicine readiness consulting; genomic technology selection and management; genomic comparative effectiveness programs assessing design and management of cancer genome/transcriptome analyses vs. standard-of-care molecular diagnostics; strategic management of medical social media channels; and individual management of instructive and/or “compassionate use” cases.

    Dr. Boguski co-founded Genome Health Solutions with Richard Kellner, who is the company’s president and previously headed his own management consultancy.

    According to Dr. Boguski, clinical application of genomics has moved past two paradigms or “waves.” The first, in the 1990s, envisioned many new drugs emerging through the human genome and its bumper crop of drug targets. The second envisioned genome-wide association study data helping researchers understand, manage, and perhaps prevent chronic common diseases. Dr. Boguski contributed to the Human Genome Project as a senior staff fellow and later senior investigator with NIH’s National Center for Biotechnology Information.

    “Now we’re in the third wave, which is that precision diagnostics will lead to better outcomes,” Dr. Boguski said. “If we can understand in any given tumor which genes are the driver mutations—not just on average for a population, but in that individual patient—we can use advanced multiplex technologies to get that information. That opens up the possibility for more targeted therapy which you expect would be more effective.”

    “That’s the current promise of genomics—not so much in therapeutics or disease prevention, but in precision diagnostics that will really enable personalized medicine,” he added.

    A key hurdle, however, is the cost of interpreting genomic data. For all the hype about the “$1,000 genome,” analyzing whole-genome sequencing data and translating it into clinical action is far costlier—between $25,000 and $100,000, Jim Golden, Accenture’s chief management scientist, estimated in his Forbes blog. That cost is not (yet) reimbursed by insurance, so patients often pay it, except for instructional or compassionate-use cases.

    “Reimbursement of the cost of interpretation is not in place yet. And we don’t have a whole lot of evidence of clinical utility. But one can see these developments, and peer into the future, as it were,” Edward Abrahams, Ph.D., president of the Personalized Medicine Coalition, told GEN.

    Joining Dr. Boguski and Genome Health Solutions in peering into the future are several companies launched in recent years to bring analysis and interpretation to the torrent of genomic data. Intervention Insights uses software developed by the Van Andel Research Institute to help oncologists analyze available cancer drugs to find the best options for patients.

    Dr. Boguski isn’t familiar with that company, but knows two of three founders of Foundation Medicine. It uses its own lab services and genomic tumor profile, FoundationOne, to detect clinically significant alterations in hundreds of cancer-related genes—then adds data on therapeutic agents and clinical trials for reports to physicians.

    “They are offering a test and we are offering complete, customized solutions—that’s the simplest way to put it,” he said.

    Another strength for Genome Health Solutions, says Dr. Abrahams, is Dr. Boguski himself: “He’s a leading pathologist and a smart guy, and he recognizes that there are intervening steps between the technology and improved outcomes.”

    By offering flexibility in data interpretation, Genome Health Solutions can make its own mark in the growing genetic analysis services field, one that positions it to attract both institutional giants and smaller healthcare providers who need access to genomic expertise.


Readers' Comments

Posted 07/06/2012 by Michael Lerman

I knew prof Boguski when he was in NCBI. Precision diagnostics is the patients tumor genome sequence (which at this time will not be accurate) and its functional analysis. This will take time and will be costly especially the sequence interpretation.
Now in cancer mutated driver genes will be found but the promise of "more targeted therapy" is greatly exaggerated as no targets were found in as many as ~200 tumors (Vogelsten). With all due respect there is to much over-promising the company is offering. The personalized treatment in case of cancer is a dream for the future

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