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Back in March, I wrote about a high-profile criminal case that was the first to use functional magnetic resonance imaging (fMRI). The defendant was a man who raped and murdered several women. His lawyers used the brain scanning technology to argue that their client is a psychopath, and therefore not deserving of the death penalty. It didn’t work.
Now, it looks like another hyped application of fMRI — lie detection — may also have its first day in court, depending on what one judge decides. As ScienceInsider reports:
The defendant in the case is a psychiatrist named Lorne Semrau, who is accused of defrauding Medicare and Medicaid. As reported last week by Wired Science, Semrau claims he had no intention to do so and has retained the services of Cephos, a Massachusetts-based company that sells fMRI-based lie-detection services, to help establish that he is telling the truth. Court documents indicate that Semrau’s lawyer introduced a motion for Cephos CEO Steven Laken to testify as an expert witness on his behalf.
Today [May 13], Judge Tu Pham will hear testimony for and against the inclusion of the fMRI evidence in what’s known as a Daubert hearing, which takes its name from a 1995 Supreme Court case that established guidelines for the admissibility of expert testimony in federal cases. These include factors such as the error rates associated with a given technology, whether it is supported by published research, and whether it is accepted by the scientific community.
A lot of people who read this blog are scientists or science writers. And most in that group are probably intimately familiar with the thorny ethical and fascinating scientific issues revolving around personal genomics.
But my other readers — my family, friends, or random Googlers — may only have a vague understanding of what personal genomics is, let alone what its importance may be for their lives. So, for this group, I must highly recommend a post on the personal genomics landscape by Dan Vorhaus, a lawyer who specializes in genomic technology. It lays out in clear, layman’s English the various ways that genetic testing is being used, and how that might change in the future. Here’s a snippet:
Genomic researchers with novel questions will continue to require novel, and increasingly participatory, research models. Clinical practice will grow and is likely to become simultaneously more specialized (e.g., increasing availability of genetic diagnostic tests) and more generalized (e.g., incorporation of whole-genome sequences into medical records as a default). Consumer personal genomics will go wherever the entrepreneurial imagination can take it and regulatory bodies permit it, leading to splintering and further blurring between its boundaries with other categories.
Congress typically creates regulations after something bad happens. A lot of smog and pollution led to the Clean Air Act. Dwindling populations of bison, bald eagles and whooping cranes led to the Endangered Species Act.The thalidomide tragedy in Europe led to a vast expansion of the FDA’s powers.
GINA — the Genetic Information Nondiscrimination Act — is a notable exception. The law, which forbids employers and insurance companies from discriminating based on DNA, was passed in 2008 — well before genetic discrimination was practically possible, let alone common.
And yet, given the dramatic rise of clinical and direct-to-consumer genetic testing, maybe the legislation wasn’t all that premature. The AP reported yesterday the first reported case of someone suing her employer for violating GINA:
A Connecticut woman who had a voluntary double mastectomy after genetic testing is alleging her employer eliminated her job after learning she carried a gene implicated in breast cancer.
Pamela Fink, 39, of Fairfield said in discrimination complaints that her bosses at natural gas and electric supplier MXenergy gave her glowing evaluations for years, but targeted, demoted and eventually dismissed her when she told them of the genetic test results.
…Company spokesman Todd Miller said MXenergy “emphatically and categorically” denies the allegations, but has a policy not to discuss personnel matters and will not comment further.
…Read lots more about this new development at Genomics Law Report. Dan says the case will probably never go to trial. Still, it’s a landmark event for those interested in the future of genomics.
In 1987, Robert Getzenberg was beginning his doctorate at the Johns Hopkins School of Medicine urology department, the oldest in the country. Founded in 1915, the James Buchanan Brady Urological Institute’s historical roots seep from its every corner. Its current location boasts a cozy library showcasing the original chair and desk of the department’s founder. Exquisite medical illustrations—including the first to document prostate surgery—line the hallways. Here, under the eye of advisor Donald Coffey, a powerhouse in prostate cancer biology, the energetic young Getzenberg started hunting for distinctive molecular signatures of the disease in rat tumor tissue.
Prostate cancer biomarkers had recently become an enticing line of research. In 1986, a San Diego biotech, Hybritech, Inc., unveiled the first US Food and Drug Administration (FDA)-approved blood test for one such marker, called prostate specific antigen (PSA)—a protein that is leaked by damaged prostate cells, including cancer cells, into the blood.
But PSA was far from perfect. As the name implies, the protein is specific to the prostate, not to prostate cancer. Early tests found that most men with common (and benign) prostate inflammation also score high for PSA. So Coffey and Getzenberg were looking for a marker with fewer false positives.
For 50 years, microbiologists have known that the nucleus of a cancer cell looks drastically different from that of a normal cell: instead of forming a smooth circle, it typically has pinches in the membrane that make it look more like a lumpy snowman or a clover. In the 1970s, Coffey discovered the nuclear matrix—the three-dimensional mesh of proteins supporting a cell’s DNA—and suggested that this structure plays a part in the life cycle of the cell.
So that’s where the duo began their search, in rat models of prostate cancer tissue called ‘Dunning tumors’. Using gels that separate proteins on the basis of weight and charge, Coffey and Getzenberg and their colleagues found several proteins, including one called D-2, expressed in the Dunning tissue but not in controls.
Yesterday, when I talked to Francis Collins at the Society for Neuroscience meeting in Chicago, I asked him about the recent hubbub over Story Landis’s resignation from the IACC. Check out his response on a video here. Here’s the background of the saga:
On Saturday, a top government official resigned from the Interagency Autism Coordination Committee (IACC), the body of scientists and advocates that’s responsible for guiding all autism research funded by the U.S. National Institutes of Health (NIH).
Story Landis, director of the U.S. National Institute of Neurological Disorders and Stroke, stepped down from the IACC after notes that she had passed to someone else at a September 30 IACC meeting were leaked to the Age of Autism blog. The blog published the text of her notes and called for her resignation.
According to the blog, Landis’s notes questioned whether Lyn Redwood, a parent member of the IACC “is pushing autism as multisystem disorder to feed into vaccine injury?”
In her letter to the other members of the committee, published by the Huffington Post Sunday, Landis wrote that her actions were “unprofessional” and “eroded trust at a time when we need to build stronger ties across government and the community.”
…is that doctors routinely call for unnecessary medical procedures, particularly expensive imaging like CTs or MRIs. From a commentary in this week’s New England Journal of Medicine:
Between 1993 and 2001, the number of myocardial perfusion scans increased by more than 6% per year, with no justification for their use based on disease rates, health care disparities, or newly published, definitive randomized trials. Since 1992, the number of CT scans obtained has quadrupled. Physicians are referring their patients for so many imaging tests that as many as 2% of cancers may be attributable to radiation exposure during CT scanning.
Five months after 19-year-old Anwari Begum’s wedding, her body was found charred beside two empty kerosene cans near her home in South Delhi, India. Years later, a court found Begum’s husband and mother-in-law guilty of her murder. Their motive: The young bride had not paid a large enough dowry.
Fire accounts for 2 percent of all deaths in India, according to a report published recently in The Lancet by Veena Das, chair of the Krieger School’s Department of Anthropology, and colleagues from Harvard University. Women, most between the ages of 15 and 34, account for nearly two-thirds of those deaths, the study found.
Civil rights groups in Minnesota and Texas are fighting their state governments in some of the first legal battles over newborn blood screening.
Every newborn, at nearly any hospital worldwide, is put through a standard screening procedure within a few hours of birth. Doctors prick the infant’s heel, and a few drops of blood are screened for rare diseases, anonymized, stored and, sometimes, given to scientific researchers. These samples have proven invaluable to scientists who are studying the basis of complex psychiatric disorders, including autism.
The National Institutes of Health (NIH) yesterday committed $60 million from the stimulus package to fund research goals for autism laid out in the first federal ‘strategic plan’ for autism research. That plan, published 5 March, and crafted by a federal advisory panel over the past year, recommends 40 research studies with a projected cost of $800 million over the next decade.
In passing the Combating Autism Act in December 2006, Congress charged the Interagency Autism Coordinating Committee (IACC) — comprising 13 federal and 6 public members — with creating a strategic plan to help the Secretary of Health and Human Services set priorities for autism research. The IACC solicited input for this plan from both scientific experts and parent advocates, whose prerogatives were frequently in conflict.
At the height of his presidential campaign against Senator John McCain last July, Barack Obama declined the advocacy group Autism Society of America’s invitation to discuss health reform at a town hall meeting. But in a written response, the then-Senator promised to increase federal funding for autism research and treatment to $1 billion each year by the end of his first term in office.
Less than two weeks after Obama took the presidential oath, autism researchers are pleased with his outspoken focus on science including, notably, an economic stimulus package that, if accepted by Congress, would dole out $2.5 billion for research at the National Science Foundation and $3.5 billion for research and building maintenance at the National Institutes of Health (NIH).
Autism is the only disease or disorder specifically mentioned in the presidential agenda published on the new White House website.
“I think that the attitude towards science, and the importance of getting evidence and doing research, will be more valued [under Obama],” says Cathy Lord, director of the University of Michigan Autism & Communication Disorders Center.
“The focus may shift somewhat to say to the scientists, ‘What do you think is important?’ And then, ‘How do we accumulate knowledge that’s going to specifically affect health and autism?’” Lord adds.
On his official campaign website, Obama had promised to appoint an ‘autism czar’ who would oversee research on autism, eliminate bureaucracy, and coordinate autism-related agencies at state and local levels. The website added that Obama would fully fund the 2006 Combating Autism Act, which earmarked nearly $1 billion in autism-related federal funding over five years.
The new president has not yet chosen a new director of the NIH, nor addressed any of these campaign promises. Still, scientists are hopeful he will keep his word.
“I’m very optimistic, just like most of America is,” says Dan Geschwind, professor of neurology and psychiatry at the UCLA School of Medicine. “I’m sure there’s going to be some influx of money over the next few years to support health initiatives, and that will hopefully extend to mental health.”
