Scarcity of Samples Threatens Personalized Medicine

7/23/12Follow @xconomy

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strike them as the best use of their limited resource, Gray says. It’s easier to make a case for using samples as part of an application to the FDA for approval of a new diagnostic test, which presumably should have a positive impact on patients.

Bonnie Anderson, the CEO of South San Francisco-based Veracyte, says the scarcity of samples is an issue that every diagnostic entrepreneur needs to think about early in a company’s life. Her company, which works in partnership with Cambridge, MA-based Genzyme, developed a test that looks at how 142 different genes are expressed in thyroid tissue, to help doctors determine when a lump is truly benign and doesn’t need to be surgically removed. Veracyte went after this market because there’s currently a lot of confusion about what to do with ambiguous conventional diagnostic results, and a lot of money wasted on unnecessary thyroid surgeries.

Importantly, Veracyte’s test was designed from the get-go to require very small samples of less than 50 nanograms. By extracting some valuable information from such a small sample, Veracyte only required doctors to make a very small change to their sample-gathering procedure in clinical trials, which left all the rest of the thyroid sample they needed for conventional analysis, Anderson says.

Veracyte CEO Bonnie Anderson

Essentially, getting the maximum amount of information out of the smallest amount of sample is the name of the game. The pressure to do that only grows when you have four or five different companies competing in a diagnostic category, all beating a path to the same few biobanks with the right kind of samples they need, Anderson says.

The good news is that some of the most advanced biological technologies out there today like high-speed/low-cost gene sequencing instruments are capable of answering a lot of questions based on a single run of a tiny amount of sample.

Still, powerful as those instruments are, they won’t reach their potential unless people and institutions to cooperate. Many samples are obtained today in clinical trials that have pretty limited use for the modern tools of biology, because they were given in the context of a researcher that only wanted to ask one specific question, says Rowan Chapman of Mohr Davidow Ventures, a leading investor in personalized medicine companies.

To get more informational bang out of the tissues, patients need to give informed consent for future use of their samples in a wide array of experiments. There are obviously privacy considerations to think about here—nobody wants to be identified to an insurer as possibly having an increased risk of lung cancer that may or may not be real—so the care and handling of samples requires a lot of thought.

But this is a conversation that patients and doctors and innovators and bioethicists all ought to be paying a lot of attention to. Access to biological samples doesn’t need to be, and shouldn’t be, a major barrier to progress in the genomic age.

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  • Steven Quay, MD, PhD, FCAP

    Atossa Genetics, Inc. has two FDA-cleared medical devices for collecting, non-invasively, breast specimens for the ducts. The company can do full transcriptome and Whole Genome Sequencing on these specimens. This should hopefully increase the availability of these kind of specimens for the research community.

    • Brian Neman

      Steven, this sounds great. Can this be done from the home? If so, I’m a customer!

  • Johnny Stine

    “Access to biological samples doesn’t need to be, and shouldn’t be, a major barrier to progress in the genomic age.”

    I’ll have to agree with your statement……. But it also shouldn’t be a barrier to saving someone’s life. A small tissue sample is all that is necessary sometimes to save someone’s life. But beating back conventional wisdom and the conventional ways of doing things is just a horrific process. Conventional wisdom is so powerful that you can’t even educate “educated people” about what is needed and why. Simple logic doesn’t even prevail….especially when the need is urgent. I’m shocked at how many people will turn their back rather than listen to reason and take on the task of applying something different where the endpoint is saving a patient rather than making a buck.

  • Johnny Stine

    I’d also like to change the title of this article to “Scarcity of courage, compassion, and innovation threatens personalized medicine”.

  • Kelly Feil, The Kellyn Group

    This article touches on two different issues. For some types of research applications, tissue availability is less than demand due to technical issues related to treatment, tumor size, etc. The second issue, which will loom larger in the future, will be the need to institutionalize the ability to collect high quality tissue samples for use in personalized medicine. Many non-academic centers are simply not set up to do this now, but that will be changing. The Kellyn Group is working now with community hospitals that recognize the need to institutionalize tissue collection and biobanking procedures to support BOTH patient care and research. These challenges are surmountable.

  • Joe Fischer

    Preservation of the samples is critical see how Lifor is used at http://www.lifebloodmedical.com.

  • dubld

    A great analysis and many insightful comments as well. My view is that the next best thing to having samples available is making the best use of the samples you have. In the age of genomics sample handling practices are already being to made to grow up a little. And as better practices merge with the trend towards total laboratory automation, it is likely that specimen handling will become a discipline in and of its own, as an offshoot of biostorage. I see this as a first step towards maximizing the availability of biospecimens.

    What will be interesting to see is if specimens themselves become a commodity item, divided and sold at market prices dictated by the diseases they carry, or the demographics of the patient. This of course will lead to significant ethical questions and privacy concerns. Nonetheless it almost seems that this is the conversation this article is steeling us for. A biospecimen market is next most logical solution to sample shortage beyond maybe “National Invasive Biopsy Day”. So its a fair discussion.
    In any case, necessity will be the mother of invention. I think a little creativity and efficiency will go a long way here. My money is on technology drastically improving biospecimen handling and thus vastly improving specimen availability.