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Ready or Not, Genomics is Coming to a Hospital Near You

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lead a physician to a bright new insight on how to treat an individual’s cancer, and an individual might even be lucky it would work. But such tests might also cause physicians to try new regimens that don’t work, and actually cause harm in a dying patient’s final days. People shouldn’t get too exuberant with some false sense of hope about what genomics can tell doctors at this point.

“People who are in desperate medical situations look for all kinds of information about what they can do, and this is just the latest thing,” says Doug Hawkins, the associate division chief for hematology/oncology at Seattle Children’s Hospital. He says genome sequencing in its current form “is an incredibly powerful tool” for generating new data about the biology of health and disease, but careful studies will need to be done before it can provide a reliable guide for physician decision making.

Part of the reason, he says, is that tumors are loaded with vast number of genetic abnormalities, and it’s not always clear which ones are really harmful. The genome instruments also spit out terabytes of data, which creates a massive computing challenge for storing, accessing, visualizing, and interpreting the data. Essentially, too often doctors don’t know yet what all that data means.

Doug Hawkins, associate division chief of hematology/oncology, Seattle Children's

“If you have enough money, you can do genomic testing for everyone,” Hawkins says. “But the real proof will be in whether you can achieve better outcomes. Until then it’s just another expensive test.”

Even researchers doing some of the most important genomics work are being careful not to overplay their hand. “Our capacity to generate data is outstripping our ability to interpret it in ways that are useful to physicians and patients,” a team of University of Washington genomic researchers said last week in a high-profile paper in Science Translational Medicine which was covered by the New York Times.

What’s awesome about this movement toward “medical genomics” is the opportunity it provides for learning more about cancer, rare childhood disorders, and much more. Foundation Medicine’s Pellini says his company is interested in finding ways to help physician customers more easily share what they are learning about cancer care with their peers from this kind of genomic screening.

Exciting as it may be, Pellini doesn’t want to see people running around and promising magical insights will come from his company’s tests, when the data can’t back up the claims. “We continue to want to make sure that the science and the data support the decision-making of clinicians. It’s extremely important to us,” Pellini says.

That said, what we are really talking about here is a vast new ability to conduct clinical research. Cancer physicians will be able to form new hypotheses on how to treat individual patients, and then test those hypotheses, according to the scientific method.

“What is science driven by? It’s driven by hypotheses,” Pellini says. “I know some clinical decisions will be based on hypotheses. It’s how we learn in the medical community. People want this. It’s extremely important. But it’s also extremely important that the oncology community continues to follow the standard of care. The types of oncologists we are dealing with are following standard of care. The problem is that the standard of care has brought them to the point where there are no more good options.”

Genomics has the potential over the long term to identify some new options for treating patients. It has the potential to make clinical trials faster, shorter, and more likely to succeed—which is something the pharma industry desperately needs. It has potential to help scientists unravel some very tough biological riddles, like what causes Alzheimer’s.

But what it can’t do as of today is cure anybody’s cancer. The families of Steve Jobs and Christopher Hitchens can testify to that. Let’s all stay excited about the potential of genomic medicine, but not get too carried away about what it can actually do today.

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  • Great article Luke. 

    I am definitely bullish on the upcoming movements towards more genomics in the clinic. I was recently at a personalized medicine/genomic conference and heard an excellent talk by Zack Kahone on Incidentalome – he is supportive of personalized medicine but his talk was about the need to be ultra careful of analyzing genomics before moving full force into the the clinic For Zack Kahone informatics software for integrating biology & bedside:  https://www.i2b2.org/about/index.html
    For concept of Incidentalome (mentioned by Zach Kahone) http://en.wikipedia.org/wiki/IncidentalomeAlso, Mike Snyder from Stanford gave a terrific talk on the topic of his own experience with personalized medicine and the importance of measuring the other ‘omics’ 
    For Mike Snyder personal genomics project:http://snyderlab.stanford.edu/

  • Salydrc

    I think they have “overly” geneticized things, as evidenced by the Swedish scientist – I cannot find his name, who looks to have proved some sort of “micro” evolution. One cannot also rule out environment, both physical and emotional, culture, climate, diet, etc. etc. as factors to disease. I wish I had studied this 20 years ago.

  • John Waslif

    The 4th Annual Personalized Medicine Conference in Boston on September 12-13 is exploring just this subject. Foundation Medicine will be presenting, along with other leaders in the field of personalized medicine (www.personalized-medicine-conference.com)