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Behind the Curtain of Personalized Medicine: The Havasupai Tribe Settlement

Personalized medicine is the Land of Oz of health care, a world where treatments work better and have fewer side effects because they are matched to each patient, especially to genetic traits that underlie particular conditions. News over the last month made this shimmering world seem closer to reality, at least for a while.

First came word that genetic testing kits were coming to a drugstore near you, with the promise of revealing a wide range of information, from how well statins are likely to lower your cholesterol to whether you carry genetic risk factors for leukemia and lung cancer. Then University of California at Berkeley said that it was offering incoming students tests for gene variants that help control the response to alcohol and folate and the tolerance of lactose as part of a campus-wide discussion about personalized medicine. Imagine students finding that they are at high risk of getting drunk (slow metabolizers) and using this information to moderate their alcohol consumption.

All along there have been encouraging reports of medical breakthroughs with genetically targeted therapies, like the news of an experimental treatment for advanced lung cancer.

Too good to be true? Maybe. Some of the medical breakthroughs have turned out to be mirages. Meanwhile, the House of Representatives and the Food and Drug Administration are investigating the scientific validity of direct-to-consumer genetic tests, including the drugstore test. The Center for Genetics and Society and the Council for Responsible Genetics have called for Berkeley to suspend its genetic testing plan on the grounds that it is hyping direct-to-consumer genetic tests. And 23andme, an Internet-based manufacturer of such tests,revealed an error in which “up to 96 customers may have received and viewed data that was not their own.”

But behind all of this news is another story – a kind of story behind the curtain. For personalized medicine to realize its potential, genetic tests must be accurate and their results meaningful in terms of action that can be taken for prevention or treatment. With few exceptions, we’re not there yet. To get there, we need a lot more basic genetic research, and that requires a lot of human biospecimens – blood, saliva, and leftover surgical and biopsy tissue. But there is a lack of this material for genetic research, and getting it thus far has been ethically and legally problematic, as demonstrated by another big story.

In the first-of-its kind legal settlement, in April, Arizona State University paid $700,000 to 41 members of the Havasupai Indian tribe of Arizona to “remedy the wrong that was done” by using of the members’ blood samples for genetic research. The members thought they had donated blood for use in finding a genetic explanation for the tribe’s high rate of diabetes. But the researchers also used the blood to study the genetic underpinnings of mental illness and the tribe’s ancestry, research that violated the tribe’s values. The tribe sued the university for using their genetic material for purposes other than diabetes research without their consent.

Because it was reported on the front page of The New York Times, this case revealed issues that bioethicists and scientists have been grappling with largely removed from the general public. What constitutes informed consent for genetic research? Are scientists doing their due diligence if consent forms are broad enough to cover many medical research bases – as Arizona State University’s was in stating that the Havasupai’s blood samples would be used to “study the causes of medical/behavioral disorders?” The settlement implies that the answer is no, write legal scholars Michelle Mello and Leslie Wolf in this week’s New England Journal of Medicine.

Therese Ann Markow, the Arizona State geneticist who oversaw the research, disagrees. “The university’s decision to settle the case rather than move forward with costly litigation should not be viewed as a condemnation of the researchers or the institution,” she wrote in a letter to the editor in The New York Times, also noting that the tribe’s claim of lack of informed consent was dismissed by a federal district court judge.

But what’s legal isn’t always what’s ethical, says Karen Maschke, a Hastings Center research scholar who studies ethical issues in research. “The Havasupai cases illustrates the frequent disconnection that scientists have with the lay public about public attitudes, beliefs, and preferences involving research with human biospecimens,” she says. “There often is a clash of interests: scientists’ desire to pursue unfettered research and some people’s desire to be asked whether they want their bodily materials to be used, and for what purposes.”

Maschke thinks that the Arizona State researchers had an obligation to “ensure that potential contributors understood that they were giving consent for broad uses of their DNA, not just diabetes research.” Others agree that better communication is needed.

Recent guidelines from the Genetic Alliance Biobank and the National Cancer Institute call for providing prospective donors with clear and specific information about how their samples will be used.

Bowing to legal challenges and other complaints, Texas and Michigan recently began asking parents for permission to make leftover samples of their newborns’ blood, taken for state-mandated disease-screening programs, available for research. Demand for these dried bloodspots, which can be stored for decades, has increased for genetic research. Maschke explains the controversy over use of newborn bloodspots in this video.

But clearer, more specific informed consent is only part of what’s needed to improve the ethics of the work behind the curtain of personalized medicine. Greater cultural sensitivity is also key, as the Havasupai case showed.

“Many scientists appear to believe that if they only explain what they are doing clearly enough, then research subjects will accept the validity of their particular scientific enterprise. That’s not necessarily true,” writes Pete Shanks, of the Center for Genetics and Society. “Genomic scientists have an understandable tendency to genetic reductionism and a focus on the individual; other groups with more communitarian assumptions may simply disagree on the values involved.”

These difficult culture clashes don’t come to mind when news travels about the latest genetic test you can buy without a doctor’s prescription or an encouraging genetically targeted treatment for advanced lung cancer. But will Berkeley’s groundbreaking back-to-school discussion of personalized medicine be big enough to get into them?

Susan Gilbert is the staff writer at The Hastings Center and managing editor of Bioethics Forum.

Published on: June 14, 2010
Published in: Clinical Trials and Human Subjects Research, Emerging Biotechnology

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