Personalized Medicine—A Tall Mountain


Despite an avalanche of new genomic information, the slope upward to applying it widely in medicine looks steep. This picture was laid out bluntly by biology pioneers Walter Gilbert and George Church at Xconomy’s biotechnology forum on Thursday, April 30. They saw big problems with both investment and public awareness. Their remarks were particularly striking to me because I’m currently writing a history of the genome project for Basic Books of New York.

Both panelists have been associated with Harvard for decades. Gilbert, now a photographer and investor, is the inventor of a Nobel-prize-winning DNA sequencing method in the 1970s and co-founder of what is now Biogen Idec. Church, also a pioneer in sequencing and advisor to and founder of several companies in the field, is best known lately for his Personal Genome Project.

Public participation, according to Church, is vital to spreading genomic medicine widely. Millions of patients and their doctors, he said, must be educated to see the relevance of genetic factors in illness. Then they must demand such information, help obtain it in the detail needed to give power to genetic tests, and use the results.

Gilbert focused on the now-classic dilemma of personalized medicine. This is the reluctance of large drug companies to study and push genetic stratification of patients into those likely or unlikely to benefit from a particular drug or dosage. Perhaps, he said, insurance companies would see the point of finding out whether a cancer patient would be helped by a treatment that costs $50,000 a year.

Both saw needs to go around existing systems. The investment system, Gilbert said, is “broken.” Venture capitalists, and many company founders, now demand an exit in three to five years. “It’s hard to put money in for 20- to 30-year periods.” This is a major obstacle to exploiting the growing power of genetic tests to sort cancer patients. Gilbert said it is presently difficult to find investment opportunities in this field, although Myriad Genetics, of which he is a co-founder, is branching out from its main genetic testing business into patient stratification. The company already trains many nurse oncologists in genetics.

Nobel prize winner Phillip Sharp of MIT, in the audience, called attention to newly announced plans by both Massachusetts General Hospital and the Memorial Sloan Kettering Cancer Center to genetically screen all their cancer patients. As data build up, analyses would gradually become more and more precise. The hope, Sharp said, was that insurers would cover an anticipated cost of $2,000 per patient.

The Food and Drug Administration, Gilbert said, “is extremely interested in stratifying patients.” FDA sees the possibility of certifying drugs for smaller cohorts of patients. But so far the drug companies, despite recent figures showing $40 billion in sales of biotechnology drugs, aren’t doing this. “They are not happy” with drugs with a non-blockbuster market.

Digitizing medical records is a vital part of the public participation Church seeks. That and education in genetics are “not a responsibility but a business opportunity.” So, “You must go around the hospitals and the doctors” to non-medical players like Google and Microsoft and crowd-sourced enterprises like Wikipedia. For Church, “integrated data” and stronger software are important for pulling together information on both rare and common diseases. He said, “People need to share both medical and genetic data.” Millions of people must be “coaxed to share the records they possess.”

Only this will open an escape from the current tyranny in genetic medicine of family history and a still weak “statistical” measurement of individual risk with DNA chips. So Church called for sequencing all the 1,400 rare human genetic diseases to create a single diagnostic test.

Both he and Gilbert saw big tasks calling for major investments, and they both appeared worried about who would come up with the money. How could people’s need for a genomic medicine turn into profit-making opportunities?

Xconomist and science reporter Victor McElheny of MIT is author of Watson and DNA: Making a Scientific Revolution (2003) and Drawing the Map of Life: Inside the Human Genome Project (2010) Follow @

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