By John C. Cannon , UCSC Public Information Office
In June the United States Supreme Court barred the patenting of genes, ruling that a company couldn’t have exclusive access to naturally occurring molecules. This decision sorts out a big piece of the debate on how genomic information should be used, but a UCSC sociologist says it’s only the beginning.
“It’s pretty easy for people to say that we ought not to own life,” says Jenny Reardon, associate professor of sociology. “It’s pretty hard to then start talking about the details. Who controls and owns the data?” Reardon is currently wrestling with those details for her second book,The Post-Genomic Condition: Ethics, Justice, Knowledge After the Genome.
The price tag for sequencing a human genome has plummeted, and that means sequencing centers are unleashing a lot more data. Researchers have done well to keep pace, developing powerful algorithms to make sense of all the raw As, Cs, Gs, and Ts—the shorthand for the bases that populate our DNA.
But many of the ethical and legal conundrums remain unresolved: who owns all this data, who should have access, and for what purpose? To address these issues, Reardon and other UCSC researchers are tearing down the barriers between social science and biology to sort out a code of conduct for handling genomic data.
Reardon founded and directs the Science and Justice Center to encourage discussion of these types of issues that sit at the interface of science
and society. And David Haussler, distinguished professor of biomolecular engineering, is helping to organize a global alliance to arrive at a consensus on how to handle genomic information, currently involving more than 100 institutions in eight countries. Together, they hope that UCSC, with its reputation for interdisciplinary dialogue and its scientific imprimatur in genomics, will extend its role in the debate beyond the hilltop campus overlooking Monterey Bay.
Early on in the genomic age, David Haussler’s group posted the first draft of the human genome online and made it publicly accessible. Soon after, Haussler’s group established the UCSC Genome Browser, a publicly available database for exploring the genomes of humans and other species. “In those days, everything was great, open science,” says Haussler. “We considered the genome to be the common heritage of humankind,” he adds.
That first human genome sequence was a composite from multiple anonymous people, so it did not reveal the genetic information of any individual. Now, however, many more people are having their personal genomes sequenced.
The unique differences in the genomes of thousands of individuals, when combined with medical records that show how these changes affect human health, hold enormous potential. Imagine a world in which an oncologist can tailor a cancer patient’s chemotherapy regimen, not just to the specific mutations in her cancer cells, but also to the way her body reacts to certain drugs—all based on robust conclusions derived from data from many individuals. But these individual sequences could also reveal things we may want to keep private, including our risk for certain diseases.
Establishing the UCSC Genomics Institute is a signature initiative in The Campaign for UC Santa Cruz. Its goal is to become the nation’s primary resource for articulating and analyzing massive amounts of genomic data to create breakthroughs in human health.
It would build on the UCSC Cancer Genomics Hub. Known as CGHub, it holds genome sequences of normal and tumor tissue from thousands of cancer patients involved in studies run by the National Institutes of Health (NIH), and access to its data is strictly controlled.
Sharing the data more widely might speed the discovery of clinically useful insights, but could also compromise the privacy of individual donors. The danger is that individuals’ identities could be traced back from the genome sequences in an open database. For example, if an insurance company links your personal information with your genome and deduces that you have a higher risk of disease, it might deny you coverage completely or bump up your rates, though federal laws such as the Genetic Information Nondiscrimination Act are designed to make this illegal for health insurers.
Protecting patients’ privacy can also stymie the science intent on searching out new discoveries in the data. One way around this problem is to make interpreted data available in a higher-level form, one that’s difficult to trace back to an individual but still useful for mining meaningful patterns in the genome. Josh Stuart, UCSC professor of biomolecular engineering, is building this type of database to collect and analyze interpretive information derived from the raw sequences stored in CGHub. Funded by a $3.5 million NIH grant, Stuart’s database will be a veritable playground for bioinformaticians from all over the world—including Haussler’s own team of experts—allowing them to test out algorithms designed to draw meaningful conclusions about the molecular signatures of cancer, with much lower security restrictions compared to CGHub.
How best to handle the growing number of genome sequences and other highly personal streams of data remains an open question, and Haussler and Stuart agree that it’s something all genomic scientists must face in every step of their research.
So, while the ruling against gene patents represents a win for openness, experts must now wrestle with how to square data-sharing with a healthy respect for donors’ rights. Guidelines from international bodies, technological firewalls, and legislation each play a role in the solution, Haussler says, but any use of genomic data must begin with a signed sheet of paper.
Giving individuals the chance to make an educated decision about how their personal data will be used is known as “informed consent.” Though it’s a step that nearly everyone agrees must be the starting point, the best way to obtain consent is still up for debate.
“If we make the process so arduous that you basically have to get a master’s degree in genetics in order to be sufficiently informed to grant consent, then you’re not going to get much participation,” Haussler says. Conversely, informed consent that’s too general might leave donors scratching their heads about just what they signed up for and who has access to their data.
In Stuart’s view, the “archaic, paper-based system” of informed consent currently in place needs to catch up and allow the “magnanimous and brave individuals” eager to contribute to science to do so. Ever the energetic systems biologist, he believes that part of the answer lies in better use of technology.
The study of genomics is moving so quickly, he says, that unanticipated uses of genetic information are cropping up at a fast clip. When that happens, “It’s really hard to go back and find those individuals to re-consent them for a different use of the data,” he adds. By leveraging social networking tools, he says scientists can communicate with prior research subjects to use their data in new ways and ultimately use that genetic information to fight disease.
A human solution
Informed consent, however, has its limits, says Reardon, especially when we know so little about how genomic data might be used in the future. Nuanced solutions will require discussion between all members of society. Just in the last year, the Are You My Data? workshop and the Genomics Gets Personal panel brought together leading scientists, legal scholars, and many others to deal with difficult questions in a “trusted space.”
Few issues are too sensitive to take on. Panelists might debate the need for committees to control access to genomic data. Or they might argue about the disparity in how science has treated minorities.
“One of the things Science and Justice has done is innovate methods that enable us to have that kind of difficult conversation,” Reardon says. “I think that’s what we’re getting good at.” And bridging those gulfs of understanding is a role that suits UCSC well.
That commitment to dialogue is why Reardon, a social scientist, has an office in Haussler’s genomic laboratory, and why members of his lab routinely participate in forums at the Science and Justice Center.
No one thinks it will be easy, but Reardon and Haussler agree that these are problems worth solving. As Stuart puts it, “When we do crack the code for how to use this information correctly, the human race stands to go leaps and bounds ahead.”