Monday, March 31, 2008
CF "success" story. Steve Murphy, Gene Sherpas. 1 March 2008.
Steve Murphy of Gene Sherpas seldom shies away from an ethical issue. Thus, when the NEJM reported the good news that "The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next" (MedPage Today, 28 February 2008). Murphy acknowledged the upside, "children born with CF in the future may actually have less significant disease and may need to have less aggressive or less early interventions". He reminds us, however, that some doctors and patients now face heavy decisions:
The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next according to this letter in the NEJM. They attribute this to the Newborn screening available in Massachusetts since 1999. … But here's what they don't say.....Preconception screening for this disease is important, but a highly personal choice. ... despite what the ACMG and ACOG say. There are some children who are doing just fine with CF. As for adults with CF like the 74 year old patient who I diagnosed a few years ago, I am certain they would not want to have never been born.
Should Researchers Share Data? Janet D. Stemwedel, Adventures in Ethics and Science. 3 March 2008.
Janet Stemwedel of Adventures in Ethics and Science comments on the widely discussed Andrew Vickers essay in The New York Times – "Cancer Data? Sorry, Can’t Have It" (22 January 2008). Stemwedel does an excellent job of highlighting the importance of data sharing for the success of translational research. She also acknowledges the research subject's contribution to this research and the exposure to risk that they have assumed. Stemwedel writes:
[R]isk is supposed to be offset by the benefits of the knowledge gained from the research. If that data sits unanalyzed, the benefits of the research are decreased and the risks undertaken by the human subjects are harder to justify. Moreover, to the extent that sitting on data instead of sharing it requires other researchers to go out and get more data of their own, this means that more human subjects are exposed to risk than might be necessary to answer the scientific questions posed in the research.
How Private is Private? Is Google a covered entity? Cheryl Lew, Women's Bioethics Blog. 4 March 2008.
After observing that HIPAA was not written with Google's emerging patient managed, personal health records in mind, Cheryl Lew of Women's Bioethics Blog wonders if additional government protections might be required. Lew writes:
[W]ill Google patients be subject to advertising spam or other intrusive advertisement adduced from their prescription lists? What guarantees that the “client” (read patient lists) won’t be sold to Pharma companies as yet another means of developing data bases about physician prescribing patterns? Who is going to regulate these issues? Google is a great search engine—I use it all the time! But I’m not sure I want to use it to manage my healthcare information.
Genomes of the Rich and Famous. Jesse Reynolds, Biopolitical Times. 5 March 2008.
Reacting, in part, to "Gene Map Becomes a Luxury Item" (Amy Harmon, The New York Times. 4 March 2008), Reynolds was the only blogger that I know about that picked up on the irony in drive towards celebrity genomics. Reynolds observes:
The prospect of biotechnology companies capitalizing on genetic information in order to develop profitable products without properly compensating the studied populations brings to mind biocolonialism, in which politically and economically vulnerable indigenous groups are exploited. But a growing convergence of genomics and information technology may lead, ironically, to the genetic "exploitation" of society's most elite.
The moral manipulation of Gattaca. Daniel MacArthur, Genetic Future. 6 March 2008.
Daniel MacArthur of Genetic Future is becoming a regular here in the "best ethics blogs" series. This month MacArthur introduces (with help from Black Belt Bayesian) us to an essay on one of the favorite films for bioethics classrooms—Gattaca:
A man is given strong medical evidence that he will die from a heart attack if exposed to the exertions of space travel, thus risking how own life and the lives of his crewmates. Ignoring this evidence, he fakes his way into astronaut training - and inexplicably, we cheer him on. How did the makers of Gattaca steer us towards this bizarre response?
The full essay, by Neven Sesardic and forthcoming in The Routledge Companion to Philosophy and Cinema, 2008, is available online: Gattaca (PDF – 209 KB).
Genetic testing - ‘recreational genomics’ or the future of diagnostics? Elaine Warburton, Genetics & Health. 18 March 2008.
Reacting to editorials in The New England Journal of Medicine and The British Medical Journal, Elaine Warburton of Genetics & Health acknowledges the limitations of the current methodologies, but notes that "introducing innovative genetic testing technology has to start somewhere". Warburton observes that 23andMe and other genomics companies are taking "huge financial and clinical risk[s] in bringing these tests to market". Warburton sees the uncertainty involved as merely a part of the ongoing cycle of research and development:
The tests are in their infancy and each of these companies are transparent in advising their customers of this fact. That said, massive scientific research continues to take place to build on the knowledge base of these tests, so that they may be refined. This process will never end.
Also see Warburton's related post: Ethical guidelines for whole genome studies. 26 March 2008.
The G.I.N.A. could be a bad thing for healthcare. William Gunn, Synthesis. 20 March 2008.
William Gunn of Synthesis was one of the few, perhaps the only, blogger brave enough to buck the current dogma on value of GINA. After reading Marcelino Fuentes's letter in Nature, "How genetic censorship would harm everyone" (PMID:18354455), Gunn agrees, but notes that: "This is all jumping the gun a little" (I hope that's not a pun) "because actual rock-solid, high-confidence correlations between a genetic feature and a disease are still rather rare, but one thing’s for sure: The better you see what’s ahead, the better you can plan for it (whether a insurance company or an individual), and having a good plan leads to better outcomes for everyone". Gunn, however, does not have a problem with acknowledging the potential inequities: "Everyone’s worried about enabling social injustice, but it can’t really be said that our current insurance system in which many are so under-served is really all that great to begin with, so let that temper your thoughts, as well".
So, what do you think? Are Fuentes and Gunn right?
Your personal health: Crowdsourcing healthcare - Pitfalls and possibilities. Deepak Singh, bbgm. 25 March 2008.
Although Deepak Singh writes more often about technology, his comments on the progress of personalized medicine and the feasibility of predictive health are usually thought provoking. In this post Deepak reacts to the many consumer privacy concerns and asserts a firm position on data ownership:
Whether it be personal genetics, or social health, our efforts must focus on consumer education, consumer privacy and perhaps most of all data ownership. Who owns the data? That is the most important question. As has been said before in these parts, we essentially need some sort of license for personal health information that establishes ownership with the person whom the data belongs to, i.e. you or I and who has access and under what circumstances. That’s where education comes in. We need access to a lot of patient information and genetic profiles for personalized medicine to be successful.
Well said, Deepak, but do you also think that patient control and "ownership" of data will improve the pace medical research?
Bringing the genome home ... but why? Sue Trinidad, Women's Bioethics Blog. March 26, 2008,
Sue Trinidad, also a regular here in the "best ethics" series, reflects on the need for oversight in the future of genetic and personalized medicine. Trinidad responds to "Genetic Testing Gets Personal" (Rick Weiss, The Washington Post. 25 March 2008.), which profiles the consumer genetics movement and the companies, like 23andMe and Knome, that are fueling it. Trinidad cautions:
Here's a fact about all these businesses: not a one of them is subject to FDA oversight. So all these claims about health benefits, etc., resulting from their services can be completely false (or at least, not based on evidence), and nothing can be done about it. If you read even a *tiny* bit of the scientific literature on genetics and "personalized medicine," you will be struck by how few experts make such claims, at least for the near term … In the meantime, though, consumers should be protected from grossly overstated or unproven claims. Whether that falls to FDA or to someone else (though the Consumer Protection Agency probably has enough work to do at the moment -- lead paint in toys, anyone?), it seems to me the Feds ought to step up on this one.
Will information on risk genes actually change behaviour? Doug MacArthur, Genetic Future. 31 March 2008.
In this second post form Genetic Future in this edition of the "best predictive health blogs", MacArthur reflects on a recent news article in Science (PMID:18369117). The article and MacArthur are among the few that have bothered to acknowledge what may be the true downfall of predictive, personalized medicine—the patient. To some extent everyone (with or without genetic information) knows and ignores health risks. MacArthur acknowledges this and observes:
[I]f it turns out that genetic information doesn't reduce risk behaviour in the real world, then the impact on public health of the hundreds of millions of dollars spent on complex disease genetics may actually be very small. I'm hopeful that this won't be the case - but it would be nice to have some actual evidence one way or the other....
Friday, March 28, 2008
Current Challenges in Understanding and Treating Mental Health Disorders
Dr. Nurnberger (who chaired the first portion of the lecture) began the talk by outlining the prevalence of various neuropsychiatric disorders, focusing especially on Bipolar disorder. Dr. Nurnberger's discussion was supplemented by an explanation from Dr. Niculescu of some of the shortcomings that past attempts to understand the genetic links to depressive/Bipolar disorders have had. According to Dr. Niculescu, “Until recently, the lack of concerted integration between the two approaches [has]… constituted a missed opportunity to accelerate our understanding of this complex and heterogeneous group of disorders”. Simply put, mood disorders involve many, many genes, which may be present in various combinations in any one of us, and interact in ways that defy easy classification. While it is clear that individuals with certain psychiatric disorders may have certain combination more often, we are far from understanding precisely which genes are responsible for which portions of the disorders.
Dr. Niculescu then detailed two main “arms” of his research; the first involves an innovative response to the problem of how to create a sophisticated working picture of the genomics involved in mental illness. Using a technique called Convergent Functional Genomics (CFG), Dr. Niculescu's team brings data from three sources together - animal model gene expression data, human genetic linkage/association data, and finally human tissue (postmortem brain, blood) data.
The advantages of bringing these there sources of information together are manifold. Dr. Niculescu’s team has been able to cross-validate findings from other research studies. This has helped his team to “extract meaning from large datasets" and to prioritize "candidate genes, pathways and mechanisms for subsequent targeted, hypothesis-driven research”. Furthermore, as Dr. Niculescu indicates, this convergent functional genomics approach may help to deliver on one of the most exciting and elusive goals of genetic research in the area of mental health: a blood test that could identify blood biomarkers of an illness.
“PhenoChipping” and the Move Towards More Individualized Mental Health Care
As part of working towards this goal, Dr. Niculescu’s research team is implementing another innovative approach – the use of PhenoChipping. In layterms, a gene is thought to be like a “blueprint” for how something biological is built; a phenotype is the way that thing is actually built and lives, which may diverge from the plan, or may change over time according to its environment. “PhenoChipping”, thus, refers to the process of collecting mental health data from subjects using a massive inventory of cognitive and affective tools. Researchers are hoping to combine this “in vivo” data with advanced genomic data to better understand what complex interaction of genes, environments, stress, and other factors participate in these serious and highly complex neuropsychiatric disorders.
Dr. Niculescu and his team see their research as moving towards the development and implementation of more tailored, personalized treatments in psychiatry. In this more personalized medicine the patient's unique profile is the target of therapeutic interventions. Dr. Niculescu states: "We hope our work will contribute to better diagnostics, early intervention and prevention efforts, and more efficacious treatments, with reduced side-effects".
Some Ethical Questions:
This research is a rich playing field for bioethics with its intersection of illness, consent, duress, technology, and research whose implications (and even direction ) can barely be anticipated from where we stand. Some questions to consider are:
What are the ethical issues to be considered when conducting research on populations of people that are ill, and ill in a way that affects judgment?
What does consent to mental illness research mean in the absence of a cure?
What if we were able to develop a blood test that help predictive capacity for determining if someone was at risk of developing a mood disorder? What would individuals want to know, and under what circumstances?
In what ways would the ethics of this predictive, diagnostic power mimic existing models in the ethics of disclosure of illness? How, for example, would it differ from existing ethical frameworks for disclosing HIV status, terminal illness, and other conditions?
What does participation in long-term mental health genomic studies mean for participants? Can participants “withdraw” from research, and if so, what happens to their data?
– Noah Zanville
[PredictER Blog welcomes this first contribution from Noah Zanville. Noah is nursing student in the accelerated track at the Indiana University School of Nursing. He serves as a member of IU School of Nursing's Leadership Council and is a key figure working with the local chapter of National Student Nurses Association. He is currently preparing to accept a position as a Research Assistant doing applied bioethics research around end of life issues in ICU settings through the Charles Warren Fairbanks Center for Medical Ethics.
Noah earned his bachelor's in Philosophy from the University of Oregon, and is a Licensed Massage Therapist with an emphasis in Lymphedema Management, Medical Massage in acute-care settings and energy work. Noah also worked as a free-lance medical illustrator for a time.]
Thursday, March 27, 2008
Many ethicists, and the World Health Organization (WHO), however, argue that one-time consent violates a research participant's autonomy. If a participant does not have the opportunity to evaluate these possible future uses and to decide whether their sample and information can be used for them, is the importance of informed consent being undermined?
Wednesday, at a noon seminar hosted by the IU School of Medicine's Department of Medical and Molecular Genetics, PredictER's Peter Schwartz critically evaluated some of the most prominent ethical arguments against one-time consent and described the complexity of deciding the role of autonomy in this realm. In his presentation, "Changing the Rules? Consent and Re-Consent in Predictive Health Research", Schwartz argued that it is not clear that a carefully constructed policy of one-time consent violates autonomy of subjects. While it would be inappropriate to justify such “one-time consent” simply on the basis of the social value of the research involved, or public support for such a policy, a careful reconsideration of autonomy may allow certain kinds of “blanket consent” policies. In his assessment, the path forward for consent for research involving biobanks is far from clear, but a possibility like one-time consent cannot be dismissed simply by appealing to a simple notion of autonomy. The crafting of responsible policies in this area will require more careful reflection on the relevant ethical notions.
45 CFR §46.116 - General requirements for informed consent. Department of Health and Human Services.
Genetic databases. Assessing the benefits and the impact on human and patient rights. World Health Organization, 2003. [PDF]
Saturday, March 22, 2008
According to the CDC's Public Health Law News (19 March 2008) and the Houston Chronicle, Texas is now the first state in the nation to require (as of Jan. 1, 2008) that insurance providers hand over employees' health records to their employers. Currently, employees have no way of knowing of (or resisting) their bosses' efforts to acquire their medical records.
This new Texas law, HB 2015 [PDF], passed the legislature despite the opposition of the insurance industry. Thus, at least this time, the insurance industry was arguing in favor of protecting patient privacy rights. As L. M. Sixel writes in the Houston Chronicle: "Medical privacy has been protected for years by the most unlikely guardians: insurance companies." But, before we imagine the insurance industry as a giant defending the front lines in the battle to secure the privacy of medical records, we should think about what was really at stake in this legislative tussle: information in the information economy.
Employers argued that they needed access to their employees' medical records to better assess and more wisely purchase health plans for their workforce. Insurers, on the other hand, would want to restrict access to information they already possess; information, which allows them (and not their customers) to make better bets on their investments. Of course, many worry that employers will misuse medical information about their employees, but I doubt that the insurance industry cares much about discriminatory employment practices. Would, for example, the insurer suffer if employees with increased health risks were some how trimmed from an employer's payroll?
Readers of this blog will want to know what this means for the exchange of genetic and other predictive medical information between insurers and employers. According to the Houston Chronicle, there's nothing to fear in Texas, because "employers still cannot obtain health information protected by other state or federal laws, such as HIV status, genetic test results or mental illness". I'm not a legal scholar, so this was news to me. Do we already have federal protections against the discriminatory use of genetic information in the work place? If so, how will the much discussed GINA add to these protections? - J.O.
Tuesday, March 18, 2008
One must remember, however, that the survey is limited to what the PR firm calls "opinion elites" - people Edelman's considers to be influential or, even, trend-setters. I suspect that most medical researchers hope for a more diverse demographic. Of course, even if the survey had measured the attitudes of a broader population, the findings would not be all good news for the future of predictive health research studies. The "Insurance" industry ranked only above "Media companies" on the trust-barometer in North America, and was ranked last in the global survey. Will people, even "opinion elites", be willing to participate in research if they anticipate that the results may be used unscrupulously (or to their personal disadvantage) by a distrusted insurance industry? Would you? - J.O.
Friday, March 14, 2008
Now, before I begin, I need to state upfront that this is the first blog post I have ever written and I am in no way an expert in politics, public policy, health care provision, insurance. I am also new to the PredictER project, and will be working with Jennifer Girod to investigate the legal and policy implications of predictive medicine. I hope that this experience will broaden and deepen my understanding of health care and public policy. Jere asked me to share what's on my mind, so here it is:
Following the publication of "Insurance Fears Lead Many to Shun DNA Tests" in The New York Times (24 February 2008), the blogosphere lit up with comments on the need to protect people from discrimination—protection that would be, presumably, provided by S. 358, the Genetic Information Nondiscrimination Act (GINA). A few, like David Dooling of PolITiGenomics, observed that the status-quo of insurance provision in the United States may seriously discourage the progress of medical research and personalized medicine. I'd like to take this discussion and move it an inch or two away from the worthy topic of discrimination. Let's think about the research and health care climate:
Which insurance system provides the most incentive to pursue predictive and preventative forms of medicine: a public-funded system or the current private system—one, in which private companies sell insurance to individuals?
As I said, I am certainly not an expert on these issues, but it seems to me that the major means of preventing chronic disease are, in large measure, socially, culturally and politically influenced (think food subsidies, health education in public schools, etc.). If eating a healthy diet, exercising regularly, getting scheduled medical exams, and avoiding unhealthy habits such as smoking and drug abuse are indeed foundational in the pursuit of life-long health, then public ownership would seem to be the way to go.
Public is superior to private because by spreading the bill for health care over the entire population, you would provide increased incentive for voters to support public programs that promote preventative health measures. In private systems where like-situated individuals are pooled together, the healthy will remain concerned about their own health, and not the health of their neighbors. Only when the health of all affects the individual, will the individual begin to care. And if we’ve learned anything in America, the quickest way to get people to care is through their wallet.
I am not arguing here that this is the “fairest” way to do things, (although my liberal leaning makes me inclined to think that basic health care for all is a social good worth our investment) to the contrary; some may abuse the system and choose not to pursue healthy living practices simply because they know that the cost to them will be subsidized by everyone else. I merely intend to say that if we want to stem the tide of deteriorating health in this country, we have got to find a way to make healthy living a social value. Broad-reaching social programs can do a lot to influence individual practices. If we can teach people to live in a way conducive to health, provide incentives for doing so, and get them the care that they need before minor problems turn into major ones [note: emergency room care will never be the most cost-effective means of providing basic health care needs], then we might be able to turn things around. Of course, this is just one piece in a complicated puzzle, but we have got to do better by ourselves, and if a public health care system is a step in the right direction, then we should pursue it. – Sam Beasley
Tuesday, March 11, 2008
As the parent of a couple of "preemies", I'm fairly certain that this research wouldn't have helped us; premature twins are not uncommon. From a predictive health angle, I'm not sure how such information would be used. Presumably men will not be so foolish as to screen potential spouses for a premature delivery marker … that'd be a quick way to end an engagement. As for the clinical uses, what interventions would be available to women with increased risks for premature delivery? More anxiety and more bed rest?
Wednesday, March 5, 2008
Monday ( March 3, 2008) at the weekly PredictER meeting, Andrew Saykin, PsyD, Director, Indiana University Center for Neuroimaging, shared his work on the neuroimaging of Alzheimer's disease. Saykin's study of Alzheimer's began with a small cohort at Dartmouth. Except for the control population, most of participants in this research were diagnosed with MCI (Mild Cognitive Impairment). As his research developed his cohorts began to include individuals reporting memory complaints, but who were not yet diagnosed with MCI. Interestingly, Dr. Saykin has observed changes in the brain scans of both MCI patients and patients with memory complaints compared to his control. Today Saykin is working to build (and collaborate with) larger, more diverse cohorts—cohorts which are easier to find at research institutions, like the Indiana University School of Medicine, located in "sunny" Indianapolis. In addition to representing a more diverse demographic, these developing cohorts will also examine ways to identify, with new imaging technologies and genetic research tools, the earliest biomarkers of the disease. As with many predictive health research studies, the ultimate goal is to identify the disease early enough to develop therapeutic and preventative interventions.
Some of the ethical issues discussed include:
How much to tell research participants: Do participants want to know the results of every memory test and each neuroimaging procedure?
Should researchers be prepared to disclose this information even when a reliable interpretation of the risks is not available?
The value of this research to public health: At the moment and into the foreseeable future, the ability to diagnose the onset of Alzheimer's disease exceeds medicine’s ability to treat the disease … will early diagnostics result in inappropriate marketing of unproven interventions to at-risk individuals?
Will there be a way to protect individuals from wasted expense, discrimination and questionable experimental treatments while at the same time encouraging continued research to understand the disease?
To join us at a future PredictER meeting, check our Center's calendar to verify the time and topic: www.bioethics.iu.edu - calendar
Monday, March 3, 2008
In the article that accompanies the comic, Adams gladly veers off into the art of the alarmist rant: "in the near future, couples who wish to reproduce may be forced to pay intellectual property royalties to wealthy corporations in exchange for the 'rights' to copy their own genes through sexual reproduction". If Adams is right about this one, in the future, the individual members of these "wealthy corporations" will have forgotten that they have or want to have children and grandchildren. Like many rants, however, Adams provides plenty of fuel to start a good discussion; thus, if the comic bores you, read the article.