Posts Tagged ‘personalized medicine’
Dr. Anil Potti, the Duke University cancer researcher whose resume and research are under scrutiny, is the ideal target for Paul Goldberg, the editor of The Cancer Letter. Goldberg, who has an uncanny sense for hubris, is building a reputation for outing bad apples among cancer researchers, and he has dug up some interesting documents about Potti.
I met Goldberg a year ago at a training course the National Institutes of Health put on for science writers. He was one of the speakers and talked about a lung cancer researcher whose research was flawed and who failed to disclose the $3.6 million she had received from a cigarette maker.
Now, the scandal that’s been brewing at Duke University over a researcher and his research methods has expanded to the Lancet Oncology investigating potential errors in a report the medical journal published in December 2007.
Dr. Anil Potti, a Duke cancer researcher, was suspended last week after his claim to have been a Rhodes scholar could not be confirmed. Duke also halted enrollment in three clinical trials that Potti lead. The trials used gene-based test results of drug sensitivity to predict cancer patients’ responses to chemotherapy drugs.
Potti and colleagues at Duke also did the statistical analysis for a report published in the Lancet Oncology three years ago. The report was based on results from a clinical trial involving breast cancer patients. The published report was titled, “Validation of gene signatures that predict the response of breast cancer to neoadjuvant chemotherapy.”
The report, which had 19 co-authors, was an important step toward personalized medicine.
But the Lancet Oncology today expressed concern over errors that two of the report’s authors detected in the statistical analysis by Potti and his Duke colleagues.
Here it is: S0140673610701856
The Lancet investigation goes way beyond potentially false claims of one Duke researcher being a Rhodes scholar. Questions of research methods and errors reach beyond one possibly rogue researcher and potentially put patients’ lives at risk.
Dan Vorhaus is a lawyer with Robinson Bradshaw and Hinson in Charlotte, N.C. where a portion of his practice comprises the growing field of personal genomics law. Given the interest in personal genomics in the Triangle, I thought I’d create an expanded version of the short question-and-answer interview I did with him for an up-coming issue of the Sci-Tech section in the Charlotte Observer and the Raleigh News and Observer (be on the lookout for that next Monday in print and online), and post it here. Vorhaus also authors the Genomics Law Report, a blog about the legal side of personal genomics, and he will be giving testimony to the Food and Drug Administration in the near future as the agency attempts to sort out particulars of how it plans to regulate genomic diagnostic testing.
How did you become interested in concentrating on personal genomics as an area of the law?
I have a master’s in bioethics; I did that degree before I went to law school. So as I started thinking about the areas of law and policy that were most interesting to me, that was clearly one of them. And it seemed like there was a tremendous opportunity for a field that is developing and emerging and creating all sorts of new and exciting legal issues. And it’s something that I’ve always had an interest in the underlying science and technology, and I was fortunate enough in law school to start working with some real pioneers in the field, specifically George Church in the personal genome field. Everything sort of built from there. Now, it’s how I make my living, it’s my career. And I love it. It’s something new and fascinating every single day and I can’t get enough of it.
Continuing with the tradition from last two years, I will occasionally post interviews with some of the participants of the ScienceOnline2010 conference that was held in the Research Triangle Park, NC back in January. See all the interviews in this series here. You can check out previous years’ interviews as well: 2008 and 2009.
To treat each patient according to his or her genetic disease triggers is an idea researchers have pursued for nearly two decades. Tests and a few medicines have resulted from the pursuit, mostly to target some cancers and to prevent side effects from genetic drug sensitivities. But putting personalized medicine into practice has proven to be a lot more complicated than originally thought.
Patients, doctors and researchers have been particularly frustrated by how difficult it is to figure out the genetic nature of complex diseases such as diabetes, heart disease and Alzheimer’s, diseases that are costly because they are chronic and affect an increasing number of people.
A Personal Genomics Symposium that Duke University’s Institute for Genome Sciences and Policy held Wednesday took stock of how far science has yet to go seven years after researchers completed mapping of the human genome and how bumpy the road can be.
Dietrich Stephan, one of four presenters at the symposium, said the goal is to pinpoint hard-wired susceptibilities to diseases early on by sequencing the genome of each newborn. Once the risks are known for each person, medicine can intervene to keep people healthy longer by preventing or delaying disease. Stephan, a personalized medicine pioneer and chief executive of the Ignite Institute in Herndon, Va., called that approach “managing people from birth to death individually.”
It’s an approach, Stephan suggested, that is necessary to get a handle on run-away health care costs.
The U.S. spent 17.3 percent of its gross domestic product on health care last year, according to a recent report from the Centers for Medicare and Medicaid Services. The CMS estimated that by 2019 U.S. health care costs could nearly double.
The potential benefits are alluring, but personalized medicine also raises questions that go beyond how long it will take researchers to pin down genetic disease triggers.
How much control do patients have over the massive amounts of sensitive, individual data that would be collected? Should the search for gene-based tests and treatments be driven by patients, by institutions, by industry or by the government? Does the entity that pays for the research own parts of the human genome? How much of the data should be made public?
Already, patients are bringing results of gene-based tests to doctor visits, said Misha Angrist, an assistant professor at Duke’s Institute for Genome Sciences and Policy who’s interested in ethical and social issues that personalized medicine raises. But “the infrastructure for this stuff isn’t there yet,” Angrist said.
Three years ago, Angrist became the fourth person whose entire genome was sequenced, linked to disease risks and made public as part of the Personal Genome Project.
While the ethical and social implications of personalized medicine remain open questions, researchers are discovering genetic links to one disease after another.
Variations in one specific gene may be common to as many as half of those with age-related macular degeneration, a leading cause of vision loss in older Americans. One version of the apolipoprotein E gene increases the risk of late-onset Alzheimer’s disease. Up to 10 percent of thyroid cancer patients carry a mutation they inherited from a parent. Genetic variations increase the risk for urinary bladder cancer and skin cancer. A group of researchers has even discovered genetic variants that are associated with an increased risk of heart attack.
To pinpoint genetic traits that can be matched to diseases is like finding needles in a haystack. One company, deCODE Genetics, is collecting genetic information in Iceland, a country where residents can trace their lineage particularly well.
At the Duke symposium, Dr. Kari Stefansson, co-founder and CEO of deCODE, spoke about the population-based approached his company has taken. Using the Icelandic database, DeCODE researchers have found genetic links to schizophrenia, diabetes and prostate cancer, Stefansson said.
DeCODE researchers also discovered that African-Americans who carry a particular gene are 3.5 times more likely to suffer a heart attack than people of European descent who carry the same gene.
David Goldstein, director of Duke University’s Center for Human Genome Variation, used a similar approach to discover two genetic variants that explain why patients of European descent are more than twice as likely to be cured from chronic hepatits C than patients of African descent.
The two variants protect from anemia, a side effect from the standard treatment for chronic hepatitis C infections that can be severe.
“You can personalize the treatment of patients with hepatitis C,” Goldstein said.
But to find genetic triggers for most common diseases, Goldstein favors another approach. He has argued that only a few rare diseases can be linked to changes that affect one common gene, or two, or three. Goldstein suggests that complex diseases are caused by a combination of many rare genetic variants - missing genes as he calls them, because they are so difficult to find.
He’s using the approach to look into epilepsy, schizophrenia that runs in families and resistance to HIV/AIDS.
A $500 ticket to the Biotech conference Monday and Tuesday offered face time with heavy-hitting investors. After an 18-month, deep recession that dried up funding for drug research and development nationwide, it was a lure that attracted Research Triangle area companies to the Raleigh Convention Center in droves.
The visitors made it clear they and other investors remain skittish, but they also noted signs of hope, such as the handful of initial public offerings by biotech companies in past months and an adjustment in venture funding last year in favor of early-stage companies.
“When we look at a year ago, we’re really all taking a breath of relief that the Dow [Jones stock index] is over 10,000,” said Stephen Sands, vice chairman of U.S. investment banking in Lazard’s healthcare group, who moderated a panel addressing the future of biotech funding at the conference. Read more…
RTI Fellows Symposium was a two-day event at the University of North Carolina’s Friday Center in Chapel Hill. This was also the first time I saw the Friday Center from within and I was looking at it with the eyes of a conference organizer. It has a Goldilocks quality to it: not so pleasant, intimate and science-themed as Sigma Xi, and not as big, cold and corporate as the Raleigh Convention Center. Just the right size and feel. But expensive as hell – Sigma Xi has been good to us over the years, not sure if we could negotiate a similar deal with Friday…..though we have definitely grown and a 420-seat main conference room at Friday Center looks good.
Imagine a chemist, a bioethicist, a pharmacist and a physician come together to discuss personalized medicine. The last thing you expect them to talk about is the need to wear matching jackets like TV weather forecasters.
But that’s exactly what a panel of experts did Monday at the RTI Fellows Symposium at the University of North Carolina’s Friday Center in Chapel Hill.