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Participants in the Framingham Heart Study got an early New Year greeting from the federal government and Boston University.
Boston University and the National Heart, Lung, and Blood Institute (NHLBI), co-sponsors of the 52-year-old study in Framingham, MA, recently reconsidered plans to allow a private company to assemble and analyze genetic data from the study and make them available to other companies on a subscription basis.
In a letter to the more than 6,000 study participants dated December 26, 2000, Aram Chobanian, MD, dean of the Boston University School of Medicine, and Claude Lenfant, MD, director of the NHLBI, informed them of the new decision.
"The success of the Framingham Heart Study over the past half-century has been based on mutual trust and an abiding commitment to the pursuit of medical and scientific knowledge," they wrote. However, negotiations between the private company, Framigham Genomic Medicine, the university, and the institute revealed complications with keeping data available to the scientific community.
"The issues that came up had to do with the data that would be obtained by the company that they would digitize, then provide essentially free of charge to the scientific not-for-profit community, but for a subscription price to the for-profit community," Chobanian says. "It became an issue as to how to handle that, what time frame they would have in terms of exclusivity of data, which is a financial issue, and what the value of it would be."
Ultimately, the study sponsors became uncomfortable with the process and reconsidered, he explains. "Because the community had only dealt with nonprofits before, the NIH and Boston University being co-stewards of the study, there was a concern about the data, quote, being sold.’ We were developing an agreement with the NIH as to how these things would be handled, but the process was very slow and there was a feeling that at the end of it all, this wasn’t the right way to go."
Framingham Genomic Medicine was originally conceived under the auspices of the university’s community technology fund, which was formed in 1975 to capitalize on the commercial potential of many of the university’s research projects and intellectual property.
The fund recruited $21 million in venture capital from private investors and helped form a separate, private company, Framingham Genomic, to assemble, analyze, digitize, and sell the aggregate genetic data.
Since the university has shifted its position, however, the new company will be disbanded, according to a university spokesman. The school still will seek other sources for funding the examination of the heart study data, such as grants, other contracts, and donations, Chobanian says. "We are still very interested in improving the quality of the data by using computer technology to put [the data] on tapes and digitizing them, but it will take us longer to do that because we won’t have that huge influx of dollars coming in from venture capital groups," he says.
The deal-breaking issue was not one of allowing private companies access to the raw genetic data already collected by the study, the dean emphasizes. Genetic data already are available to for-profit and nonprofit researchers alike, through the study’s genetic distribution policies. "It involves a process of going through a review group [when applying to access the databases]," he says. "It is not that the utilization of data by a company was a problem because, theoretically, that could be done at any time."
In fact, the practice of private biotechnology companies accessing databases of medical information for the purposes of analyzing genetic information on a large scale is not unique, says Peter Ludwig, JD, an intellectual property attorney with the firm Darby & Darby PC in New York City.
"I was mystified by why they [reconsidered]," Ludwig says of the university’s decision. "In Massachusetts, you might have some overriding public interest issues that concerned them, but based on past experience, those can be addressed."
There are mechanisms for ensuring that the privacy and confidentiality of individuals’ genetic information are protected. And, there are contractual methods for ensuring that the originating nonprofit entities, the "owners" of the information — in this case, the university, he contends, can maintain some control over how the genetic data are used.
"I know of other firms that are actively trying to get a hold of genetic information from hospitals, government institutions, and authorities to use for pharmacogenomic evaluation," he says. "Many, many companies are taking this information, mining it; the institutions are getting paid for these rights, and it is a nice deal all around. The institution gets some money, the private company gets access to the data — and can make some inventions that are patentable, for which the institution gets some money for that, too — and the public gets the benefit of a new diagnostic assay, or a better way to treat a disease, or a new drug. It is a win-win situation," contends Ludwig.
The mapping of the human genome spawned a new subset of biotechnology companies, Ludwig says, those devoted to "data mining" of large databases of raw medical information.
Companies take the DNA samples collected in a study, or the computerized record of the DNA obtained from such samples, and feed that information into huge computer databases. They also take the demographic information (such as age, weight, and sex) linked to the tissue samples (but, in the ideal scenario, delinked from identifying information) and feed that information into a database as well. Computer sequencing programs can then be used to do mass comparisons of genetic markers that may be linked to certain characteristics.
"For example, you are interested in what sets apart people who do well on beta blockers or ACE inhibitors," Ludwig explains. "What [the data miners] will do is go in, since they have the blood and tissue samples, analyze the genome of all of these people, then, using the biographical and demographic data, they’ll pick out all of the people who took beta blockers. Then, they separate those who did well and those who did not on beta blockers, and look for SNiPs, the single nucleotide polymorphisms, or clusters of SNiPs that are unique to all of the people who do well on beta blockers."
If, for example, that analysis finds a genetic anomaly that is statistically linked to performing well with beta blockers, it would provide useful information. A test screen could be developed to determine who would most likely do well on the drugs and who might do poorly, he concludes.
The problems arise when these companies seek to patent their "discovery" of the genetic marker or anomaly. How can someone "own" the rights to a product of nature, medical ethicists and researchers have wondered?
But, says Ludwig, what the companies do is take the genetic discovery that is useful and then patent that information as a method of treatment, diagnosis, or as a target for a drug, he says. "You can’t patent a gene, no one can patent a gene, but what people are trying to do is patent ways of using the information," Ludwig contends. "It is very unlikely that a company could take a gene and get a patent on the nucleotides because you have to show that your discovery is useful in order to receive a patent for it."
Providing the computer technology, research, and resources to do the necessary analysis of the genetic data are expensive. What’s more, public funding sources have not traditionally provided sufficient capital to do this type of work quickly, and private companies willing to provide the money should reasonably expect to see a return on what is often a huge investment, he adds.
"I think the move is clearly on to declare more and more of this information proprietary," he says. "It has enormous financial value: for research, clinical applications, new product development. Everyone is moving to clamp down on free distribution of this. But, I do think folks want to share in the benefits that come from using the information."
But far from advancing medical research, the granting of "life patents," patents on certain gene sequences, seriously slows the advancement of medical treatments and technologies, contends Martin Teitel, PhD, executive director of the Council for Responsible Genetics, a nonprofit bioethics organization in Cambridge, MA.
The council currently is completing a study, which it hopes to publish in the next few months, of the impact that gene patents have had on the medical and pharmaceutical industries. "What we’ve found exceeds our worst fears about the potential that these patents have," he notes. First, he says, medical researchers working on genes covered by a patent are reluctant to share their findings and publish preliminary data due to restrictive contracts governing their institution’s "intellectual property," he claims.
And, the profit initiative motivating private biotech firms is driving medicine away from developing new therapies in favor of developing new diagnostic tests. For example, specific mutations on the BRCA-1 and BRCA-2 genes have been statistically linked to the development of breast cancer, Teitel says. One of these markers appears in approximately 10% of women who develop breast cancer.
Therefore, the most profitable avenue for the company holding a patent covering these mutations is to develop a diagnostic assay that looks for the anomalies, not necessarily a therapy aimed at helping the smaller percentage of women affected by the genetic mutations.
"So instead of a therapy aimed at 10% of a group of certain women, you have a test targeted at 100% of all women," he says. It’s also misleading to claim that research is not restricted because companies can only get patents for the "useful" technology associated with a specific gene, he claims.
If the company is granted the patent, it then has control over what useful technologies are derived from that information. Myriad Genetics Inc., which has the patent for the BRAC-1 and BRAC-2 mutations, effectively moved to prevent University of Pennsylvania investigators from its own research on the genetic traits, he relates. Even though the patent may only govern technology related to diagnosing and treating breast cancer, it is essentially the company’s call about what research is performed in that area, Teitel emphasizes.
The U.S. Patent and Trademark Office recently issued new guidelines regarding the patenting of genetic information, more clearly defining what could be patented and what could not, he says. But time will tell how well those regulations will be enforced and whether they are enough to protect the integrity of scientific research.
The ability of private corporations to access data gathered with taxpayer funds, like the NIH-funded Framingham study — then profit from that data at public expense — is another concern, he adds.
The council’s study will show that the costs of the diagnostic assays and therapies developed as a result of these discoveries has been out of line with the costs required to develop them. "We have to rely on the government to protect publicly funded research and preserve the benefits for the public," Teitel says. "But I am not sure what kind of job they’re doing. If you look closely, you have to wonder exactly what and who is being protected." n
• Boston University Medical School, Office of the Dean, 715 Albany St., L-103, Boston, MA 02118.
• Peter Ludwig, Darby & Darby PC, 805 Third Ave., New York, NY 10022
• Martin Teitel, Center for Responsible Genetics, 5 Upland Road, Suite 3, Cambridge, MA 02140.