Wednesday, December 26, 2007
By the way, if any of PredictER Blog's readers would like to know more about the history of eugenics in Indiana, be sure to investigate the holdings of the Bioethics Digital Library at the Indiana University Center for Bioethics (the home of PredictER). Also see the Indiana Eugenics History & Legacy 1907-2007 Web site (Project Director: William Schneider, Ph.D. Department of History, Medical Humanities-Health Studies Program, Center for Bioethics, IUPUI).
[Photo: "The greatest blessing for a child is to be born of healthy parents"; The Indiana mothers' baby book: a brief treatise for mothers upon pregnancy, preparation for and management of labor, the care of mother and child, and breast and bottle feeding / Indiana State Board of Health. BEDL.]
Friday, December 21, 2007
Wednesday, December 19, 2007
In a recent email to the Genetic Alliance listserv, Sharon F. Terry (President and CEO, Genetic Alliance) announced that the Genetic Information Nondiscrimination Act (S.358) "is not included in the omnibus bill that will come out of the rules committee tonight [Dec. 16] in the House". Terry adds that the House "is worried about a veto from the President, and wants the omnibus to be as noncontroversial as possible".
Two versions of the omnibus, H.R. 2764: Department of State, Foreign Operations, and Related Programs Appropriations Act, 2008, have now passed in both the House and the Senate. Before sending the bill to the President, a conference committee of senators and representatives will work to justify differences in the versions. - J.O.
Monday, December 17, 2007
Although GINA has received the most attention from the press and legislators (and rightly so, as it is only one roadblock away from a vote) other bills relevant to predictive health research have also been introduced. Like GINA, two of these were written with the intent to enhance the privacy of medical records. Both of these are currently waiting for review in the Senate's Committee on Health, Education, Labor, and Pensions:
S.1455 National Health Information Technology and Privacy Advancement Act of 2007
Introduced May 23, 2007, this bill aims "to provide for the establishment of a health information technology and privacy system". The bill's sponsor, Sen. Sheldon Whitehouse [RI], and four cosponsors ask for creation of the "Office of the National Coordinator for Health Information Technology". Among other things, this new "nonprofit national health information technology and privacy corporation" would identify rules for the research use of non-identifiable health care data.
S.1814 Health Information Privacy and Security Act (HIPSA)
HIPSA, reviewed here at PredictER Blog, was introduced by Sen. Leahy [VT] on July 18, 2007. While intending, in part, to "promote the use of non-identifiable information for health research", the bill strengthens personal privacy protections. If passed, individuals would be permitted to inspect a copy of this information and would be notified of security breaches. HIPSA also requires the Health and Human Services Secretary to provide "model written authorization for the disclosure" of health information and establishes criminal and civil penalties for intentional violations.
Readers interested in the development of biobanks and genetic databases for pediatric research, will want to follow the progress of a third bill: S.911 Conquer Childhood Cancer Act of 2007. This bill amends the Public Health Service Act to establish a grant mechanism to sponsor the creation of a national, population-based database for pediatric cancer research—the Childhood Cancer Research Network. The Act, introduced by Sen. Reed [RI], would also provide grants for Research Fellowships and for the public awareness and communication efforts of relevant advocacy organizations. This bill was recently reviewed by the Senate's Committee on Health, Education, Labor, and Pensions and placed on the Senate Legislative Calendar (see General Orders, No. 535). A version of the bill is also making its way through the House of Representatives; H.R.1553 is sponsored by Rep. Deborah Pryce of Ohio and was referred to the House Subcommittee on Health on March 16, 2007. - J.O.
Subscribe to PredictER Blog for updates on these and other legislative developments.
Friday, December 7, 2007
If the practice of genetic genealogy is any indication, the future of medicine in the genomic era will be suffused with complications. Nancy Berlinger, of Bioethics Forum, provides an engaging and insightful account of a few of these in "And I am Marie of Romania: Genetics, Genealogy, and the Ethics of Storytelling". Berlinger adds to the ongoing commentary on the new Henry Louis Gates, Jr. venture, AfricanDNA. Gates started this venture, in part, because of frustrations with inaccurate and misleading genetic genealogy results. As Berlinger writes, the misinterpretation (that Gates possesses a genetic link to those once living in the ancient North African kingdom of Nubia, and not, as it turns out, to a less impressive European "servant" in the American colonies) might have been the result of poor science, but also, might be attributed to "wish fulfillment on the part of geneticists and their clients".
To the Gates story, Berlinger contributes related accounts of individuals receiving, accurate, but potentially unwelcome, genealogical information. While America still struggles with its racist inheritance, individuals like Bliss Broyard struggle with new found genealogical information (see her new memoir, One Drop: My Father’s Hidden Life — A Story of Race and Family Secrets). Every one has family secrets--information we are not privy to at the moment--and (as Matt Mealiffe reminds us in Who's Your Daddy?) there's no reason to believe that all or even most of these secrets are about race. Clearly, genetic genealogy (as Blaine Bettinger often notes) is no simple task--will personalized, genetic medicine be any easier? Who will hold and who will expose the secrets in your genome? Is it possible, just maybe, that a one or two of the most enthusiastic, early adopters of personalized medicine will discover a few things they'll wish they'd never known? - J.O.
Wednesday, December 5, 2007
Citation: Nature 450, 762 (6 December 2007) | doi:10.1038/450762b; Published online 5 December 2007.
Related: NPG author licence policy.
Wednesday, November 28, 2007
“People are making life-changing decisions based on these tests and may not be aware of the limitations .... While I don’t think any of the companies are deliberately misleading customers, they may have a financial incentive to tell people what they want to hear.”
Bettinger takes issue with the comment and asks: "Do people really make 'life-changing' decisions based upon the results of a genetic genealogy test?" He adds "So, what type of decisions are being referred to, and how often are people really making them?" A quick look at Duster's co-authored editorial in Science (19 October 2007) suggests that these decisions include potentially unexpected and sometimes distressing changes in personal identity, changes in self-reported ethnicity, and the selective financial support of African communities. While Duster's comment was made in the context of a discussion of genetic genealogy testing, he may have also had other genetic testing applications in mind or, perhaps, the unwarranted reification of race in genetic research. [See Duster's "Race and reification in science". Science 2005 Feb 18;307(5712):1050-1.]
Although some individuals (for better or for worse) may make "life-changing" decisions following the receipt of genetic genealogy test results, many more are expected to make these decisions following medical genetic tests. Bettinger's question, however, deserves attention here as well: Do people really make "life-changing" decisions based upon the results of a broad genetic test for uncertain health risks? Many individuals requesting a test for specific genetic disorders (Huntington Disease, for example) do make some life-changing decisions based upon the results, but how will individuals interpret increases in risks for more common health conditions? Heart disease, diabetes, osteoporosis? Many of us already know that we have a family history of one or more these (and other) diseases, but how many of us successfully respond to this information. Will the results of a genetic test provide better motivation to change our lifestyles? How many of us expect to jog more than we blog? -- J.O.
Bolnick DA, Fullwiley D, Duster T, and et al. The science and business of genetic ancestry testing. Science. 2007 Oct 19;318(5849):399-400.
PubMed ID: 17947567 | PredictER CiteULike [excerpt]
Duster T. Race and reification in science. Science. 2005 Feb 18;307(5712):1050-1.
PubMed ID: 15718453 | PredictER CiteULike [excerpt]
Friday, November 23, 2007
Grand challenges in global health: community engagement in research in developing countries ...
Tindana PO, Sing JA, and et al. provide a short review of community engagement (CE) concepts for research in developing countries and discuss two models in Africa. Although the authors note that community engagement goals "have become prominent in research policy", they point to divergent definitions of CE and the need for evaluation. They caution that "there is a growing recognition that communities, not just individuals, can suffer harm from participation in research. For example, with out adequate protections, population genetics research runs the risk of stigmatizing or discriminating against recognizable communities ....". The authors plan to document CE in developing countries and to develop preliminary guidelines to facilitate CE in research.
Community engagement in epidemiological research ...
Sapienza JN, Corbie-Smith G, Keim S, and Fleishcman AR outline the CE practices and plan of The National Children's Study (NCS). In introducing the project, they note that CE "can be quite complex, even within a single site due to the difficulty researchers have in defining communities". In addition to the difficulty of defining "community" they add that "finding key community leaders that will best represent [the] multitude of community views and perspectives" can be a challenge.
An examination of community members', researchers' and health professionals' perceptions of barriers to minority participation in medical research ...
Robinson JM and Trochim WMK, in a "concept mapping" study of perceived barriers to minority participation in research, demonstrate that the research system (in addition to the often discussed lack of trust in researchers) contributes to lower participation rates. The authors also discuss the discrepancy between how health professionals and community members define these barriers. They conclude with three recommendations for improved minority participation rates in health research: (1) improve relationships between the medical research community and the communities they serve; (2) increase the levels and improve the nature of community involvement in the research process; and (3) efforts must be multi-dimensional, addressing both community interrelations and research process issues.
Robinson JM and Trochim WMK. An examination of community members', researchers' and health professionals' perceptions of barriers to minority participation in medical research: an application of concept mapping. Ethnicity and Health 2007; 12(5):521-39.
DOI: 10.1080/13557850701616987 PredictER CiteULike [abstract]
Sapienza JN, Corbie-Smith G, Keim S, and Fleishcman AR. Community engagement in epidemiological research. Ambul Pediatr 2007; 7(3): 247-52.
PubMed ID: 17512886 PredictER CiteULike [abstract]
Tindana PO, Singh JA, Tracy CS, Upshur RE, Daar AS, Singer PA, Frohlich J , Lavery JV. Grand challenges in global health: community engagement in research in developing countries. PLoS Med. 2007 Sep 11;4(9):e273
PubMed ID: 1785017 PredictER CiteULike [abstract]
Monday, November 19, 2007
Engaging the Community in Predictive Health Research: Reporting on PredictER's November 2nd Expert Panel
In most predictive health projects, researchers need to obtain human biological materials that can be stored for immediate or later use and then linked to detailed health information from medical records. Building biobanks and predictive health research projects requires a supportive public. To succeed researchers need a representative sample of willing participants, good state and institutional policy, and (of course) funding. (This research also benefits from highly motivated advocacy groups such as Susan G. Komen for the Cure.) In a few words, predictive health is one of the most community saturated forms of medical research to date.
The great good that will be accomplished by predictive health research, with its ability to forecast a person’s health future with reasonable probability, must be pursued with careful consideration. These studies raise ethical, legal, and social questions beyond the scope of the current paradigm of medical research. Very basic examples of these questions include: What do researchers do when they find that an individual tests positive for a gene or other biomarker that puts them at significant risk for a disease in the future? Can an individual’s biological material be used first to study one type of disease or treatment and then later another? What protections need to be in place to ensure that the sensitive information in an individual’s health record and genes does not result in employment or health insurance discrimination?
The Pace of Translation
While questions like these may seem very scary when rattled off one after the other, the truth is that predictive health is the future of medicine--a future that hopes to fulfill the ambitions of the human genome project, by providing an individual with a personalized assessment of risk and response to treatment. The human genome project succeeded in decoding a great deal of information, but what that information means for individuals with heart disease, a family history of cancer, or a smoking addiction, has not been answered. If current research succeeds, this information will be translated into real clinical applications in the not too distant future. Research looking to define these types of predictors is well underway at most universities--some, as exemplified by Emory's Predictive Health Initiative and the TGen (Translational Genomics) project in Arizona, have worked to establish comprehensive predictive health research programs. Meanwhile, as The Wall Street Journal recently reported many (up to 1,400) genetic tests are already available for individuals interested in assessing their risks for a number of diseases. Moreover, many specific predictive tests are already being used to chart treatment paradigms in hospital care.
PredictER Engaging the Community
Still, the fact that predictive health is occurring does not answer any of the concerns voiced earlier. These are concerns that the PredictER program at the IU Center for Bioethics is working to address. On November 2nd, PredictER convened a panel of 35 experts and community advocates to begin to give shape to many of these concerns and to explore ways to reach out to the community, build collaboration, and encourage research while protecting individual and public interests. While the panel of experts shared an understanding of the progress of predictive health, it took an entire day of brainstorming and discussion to reach consensus on what issues may be present with respect to engaging the community. In the end, it was clear that predictive health will require physicians, researchers, and the community to join in constructive, mutually beneficial work. In the near future a white paper will be published by the Center for Bioethics with a more detailed account of the November 2nd event. This paper will also introduce the next step in PredictER's community outreach mission--a plan to engage central Indiana community leaders and to listen to their concerns about the future of predictive health research. -- Patrick Barrett
Friday, November 16, 2007
A recent article in the Minneapolis-St. Paul Star Tribune indicates that the controversy between the Minnesota Department of Health (MDH) and the Citizen’s Council on Healthcare (CCH) regarding collection and retention of newborn blood samples remains a live issue. Reporter Chen May Yee invoked our pathos by using the “sick baby” card, framing the debate as one between a camp committed to genetic screening to save newborns and a gang of privacy advocates, outlandishly exaggerating the harms resulting from applying the Minnesota Genetic Privacy Act. Yee describes the newborn screening program as a small intrusion necessary to save lives while characterizing CCH’s concerns as fear of the unknown.
The article misrepresents CCH’s objections and presents a mutually exclusive approach to newborn screening: perform newborn screening or apply the Minnesota Genetic Privacy Act which requires parents to consent to the blood collection, genetic screening tests, and retention of the blood samples for future research use. As the administrative courts have ruled, the Minnesota Genetic Privacy Act does in fact apply to newborn screening practices. In theory, application of this law provides even more public benefit: parents consent to allow newborn screening, they can consent to the MDH’s retention of blood samples for more research to develop new screening tests, and the law ensures parents have an informed understanding of each process and its value.
MDH’s chief legal counsel David Orren stated that “data in the hands of public health is very different from the data in the hands of an identity theft or hacker.” Yet, as long as the MDH was not in compliance with the law and they do not have specific permission to retain this information, can their status as a government agency change the fact they should not have or retain these samples and information? -- Katherine Drabiak
Thursday, November 15, 2007
Ron Winslow’s “Is there a Heart Attack in Your Future?” published in last week's The Wall Street Journal recently introduced the public to Navigenics, Inc., a California based corporation offering direct to consumer genetic testing services. For $2,500, a customer may order a kit to collect a saliva sample to send to Affymetrix, Inc., which uses a SNP sorting chip and returns results to Navigenics. With a username and a password, customers may then view the results of their genetic predisposition to twenty genetic diseases and compare their risks to those of the generalized population. The fee includes telephone consultations with a genetic counselor and one year of updates on new SNP disease validations.
Navigenics professes a dedication to presenting “complex scientific and medical information to you in an easy-to-understand format.” Yet the very nature of evaluating disease risk based on a single SNP is inherently complicated. Disease risk must be interpreted in the context of an individual’s complete genetic sequence in addition to environmental factors. These limitations may frustrate consumers expecting immediate and definitive results from this online service.
Several critics of direct to consumer genetic tests (DTC), including David P. Hamilton of VentureBeat, have pejoratively referred to the process as “corporate genomics.” By selling these DTC genetic tests and services as merely another online product, these companies by-pass the physician-patient relationship and do not benefit from this traditional way of assessing the importance personal genetic and medical information. Navigenics’ co-founder and chief scientific officer Dietrich Stephan noted that eliminating this relationship may minimize individuals' concerns about breaches of patient confidentiality and the loss of genetic privacy. Responding to a deficiency of legal protection for the privacy of genetic information by attempting to circumvent recording and communicating that information with one’s physician constitutes a logically faulty solution and could lead to even more adverse effects to members of the public. Lay understanding of these tests may lead to over-inclusive or under-inclusive interpretation of the results, which (in both instances) potentially leaves the individual confused and isolated. Based on a (mis)understanding of their personal results, Individuals may be less likely to seek face-to-face treatment from their physicians and genetic counselors. Other individuals, burdened by an unnecessary anxiety, will increase their visits to primary care physicians and thereby exacerbate the inequitable allocation of health care--patients with more pressing medical needs may wait longer and pay more for treatment.
A survey published earlier this year by the Genetics and Public Policy Center (download the PDF) shows that some state legislatures have attempted to address the complexity of DTC genetic tests by placing restrictions on whether the state will allow consumers to circumvent physicians in the receipt of information about their genetic predisposition to disease. As Steve Murphy, of The Gene Sherpa, recently noted, several state laws explicitly prohibit DTC testing, or require an individual’s consent to perform each individual genetic test and a separate consent to retain the individual’s genetic sample. These extensive statutory requirements for separate consent reflect the principle that individuals should fully understand the limitations and implications of each genetic test- preferably through in-person interaction. This purchase has inordinately more significance than most other online transactions, and the law is designed to reflect this difference. What is the benefit of more genetic information, if patients lack the training to interpret its significance? And what will be the personal, legal and social consequences of evading of current informed consent requirements? -- Katherine Drabiak
Thursday, November 8, 2007
If you're a regular reader of this blog, if you receive PredictER News Brief, if you have attended any PredictER event; you've probably encountered definitions of "predictive health research". But, let's pretend you're not a regular PredictER Blog reader; imagine that! You might wonder … What's the big deal; aren't all medical professionals predicting health outcomes? Isn't most medical research conducted with the hope of better predicting health outcomes? Well, you're not alone. These are questions I regularly entertain when updating PredictER's shared headlines (see the panel on the right) or when adding items to PredictER's del.icio.us and CiteULike accounts. In fact, two recent news items seemed to be begging to stretch the scope beyond the typically featured genetic and neuroimaging research. First, on the 30th of October, The Washington Post reported "Quality of Life Predicts Lung Cancer Survival". The story relays the news of recent cancer research findings and quotes the lead author, Dr. Nicos Nicolaou of the
"In the past, we've considered the stage of disease or tumor size along with other empirical data to predict how long a patient will survive, but now we know quality of life is a critical factor in determining survival".
The second story, also relaying research news on "survival" factors, appeared Wednesday in MedPage Today: "Mathematical Index Simplifies Survival Prediction After Liver Grafts". In the November 7th report, Judith Groch writes:
The researchers [Michael L. Volk and colleagues at the
Sounds "predictive" to me, but is it relevant to PredictER? I can't say "no", but I have to admit that PredictER Blog has focused on research emphasizing long-term prediction … tests and methods revealing disease years (if not decades) prior to the onset of symptoms. This "predictive" research often requires the latest developments in research knowledge and technology; it also introduces a new emphasis on some familiar ethical and social issues. When research requires biobanks and databases for the collection of tissue samples and genetic data for potentially long-term and unexpected use, the task of assuring subject privacy, dignity, and autonomy faces new challenges. These challenges are multiplied when biobanks are coupled with longitudinal access to personal medical records. Thus, while reserving the opportunity to be inclusive, the interests of PredictER Blog can be distinguished from the "predictive" aspects of all biomedical research (exemplified by the Nicolaou and Volk studies) by a measure of degrees. PredictER Blog is interested in research aims marked by dramatic increase in the power and accuracy of health "prediction", the requisite ethical protections, and the much anticipated benefits ... a more personal "personalized medicine".
Volk ML, Hernandez JC, Lok AS,
Nicolaou N, Moughan J, Sarna L, Langer C, Werner-Wasik M, Komaki R, Machtay M, Wasserman T, Bruner D, Movsas B. 2007. Quality of Life (QOL) Supercedes the Classic Predictors of Survival in Locally Advanced Non-Small Cell Lung Cancer (NSCLC): An Analysis of Radiation Therapy Oncology Group (RTOG) 9801. International Journal of Radiation Oncology, Biology, Physics. Volume 69, Issue 3, Pages S58-S59. [doi:10.1016/j.ijrobp.2007.07.107]
Thursday, November 1, 2007
Wednesday, October 24, 2007
After resisting the temptation to comment on the Watson scandal, I'm giving in ... and if I'm going to "muckrake", I think there's no better time to add Britney Spears to the mix. The Nobel laureate (Watson not Spears) probably deserves the broad public reprimand he's currently recieving for his racist comments. Hsien-Hsien Lei of Eye on DNA provides a good summary of how genetics bloggers are responding and both the BBC and The New York Times have reported his comments and their consequences. Meanwhile, the scandal has re-ignited attention to his controversial ideas about genetic research and contemporary eugenics; for a sample, see Michael Gerson's Op-Ed column in the Washington Post, "The Eugenics Temptation".
If anything good emerges from this uproar, let's hope that it includes a healthy discussion of the social implications of genetic research and the future of predictive health care. For example, this event gives us the occassion to explore the impact of this and similar scandals on the public's opinion of genetic and biomedical research? According to Google Trends the search for [james watson] may be reaching its peak for the last three years:
How will this sharp increase in the public's attention to Watson's notions change (if at all) the effort to recruit potential research participants? At his best (or worst) I'd bet that Watson always loses to Spears:
But who is more likely to participate in genetic research? Britney's news junkies or Jim's? - J.O.
Thursday, October 18, 2007
Other panel sessions relevant to the ethics of predictive health research include:
- One Hundred Years of Eugenics: From the “Indiana Experiment” to the Human Genome Project. Friday, 19 October 2007: 10:30 AM-11:30 AM
- Who Controls Your DNA? Saturday, 20 October 2007: 10:30 AM-11:30 AM
- Identifiability in Genomic Research: Considerations of Privacy, Autonomy, and Social Identity. Sunday, 21 October 2007: 9:45 AM-10:45 AM
Monday, October 15, 2007
“As medieval European Christians feared to have their souls bared for public examination, lest they be suspected of heresy, so modern, secular Westerners fear the baring of the nearest thing to their individual essences that science has come up with: their genomes.” – The Economist, August 2007
As the article correctly suggests, the public’s preoccupation with their genetic information as it relates to their insurability reflects a deep concern of life-altering discrimination based on immutable characteristics. If a person bares their “soul” by taking a genetic screening test and discovers the existence of a genetic disorder, they may be subject to insurance underwriting which increases the premium, excludes certain medical conditions from coverage, or shortens the benefit period. Despite this clever analogy, the article’s conclusion (an eventual system overhaul) leaps over the public’s very real concerns regarding coverage during the transition to a reformed insurance industry.
A False Sense of Confidence: Underwriting with Imperfect Facts
The principle of individual underwriting relies on assessing future risk to determine eligibility and rates. These have traditionally been based on imperfect or external factors rather than highly certain predispositions. Several opponents of genetic exceptionalism, such as Mark Rothstein (35 J. Law. Med. & Ethics 59 (2007)), argue that genetics serve as an imperfect predictor of health. They remind us that the interplay between a genetic predisposition and environmental factors will affect a disorder’s severity and manifestation. Rothstein proposes a general increase in the privacy of health information rather than separately regulating genetic information.
Until Reform: Assessing the Current Legal Framework and Possible Effects
Although idealistic, waiting to pass a more perfect and encompassing federal regulation relating to information privacy in these contexts will not adequately address shortcomings in our current treatment of genetic information in the insurance arena. While no federal law exists to prohibit this practice by health insurance companies, state laws offer disparate protections and are widely misinterpreted. Several states expressly differentiate between health, disability, or life insurance, allowing discrimination for some coverage based on sound actuarial principles. If, at the same time, insurance companies and others misinterpret the significance of genetic test results, this confusion, as Hsien-Hsien Lei of Eye On DNA reminds us, would not be good news for future of predictive health care.
Despite the fact that genetics may serve as an imperfect proxy to assess future risk, insurance companies’ business interests dictate the compilation of as much information as possible to assess risk occurrence. Although no insurance companies currently require applicants to submit genetic tests for underwriting purposes, Nancy Kass and Amy Medley (35 J. Law. Med. & Ethics 66 (2007)) suggest that future insurance companies may adopt these procedures. A Kaiser Family Foundation Study conducted in 2001, which reported insurance company responses to hypothetical applicants, suggests that applications with a high predisposition to severe incurable illness would result in complete coverage denial. In such a scenario, as David P. Hamilton at VentureBeat suggests, individuals may be relegated to profitable and unprofitable segments. On the other hand, integrating genetic tests in the risk-rating process may eventually reach a status quo--that is, all individuals are predisposed to some illness or condition and coverage will eventually disperse.
While waiting for the hypothetical day in which insurance coverage (post-genetic testing) returns to status quo, state laws that allow underwriting (either by statute or via absence of legislation) based on an individual’s genetic information in any insurance context must be re-examined. Should we be concerned that a risk-calculating business may formulate assessments based on such imperfect data and with such severe consequences? Current legislative status suggests that insurance companies have no legal duty preventing them from using genetic information or perceived genetic characteristics as a basis for coverage, benefits, or denials in some contexts. Although no cases exist to document conflicts related to insurance, several notable cases in the employment context suggest it is imperative for the law to recognize a duty and a remedy to potentially injured individuals. Without the legal recognition of such rights, courts' conservative jurisprudence could prevent any legal remedy by dismissing plaintiffs’ claims. In such a context, health care and insurance consumers would sink from the medieval limbo The Economist describes to dire region of despair. -- K.D.
Wednesday, October 10, 2007
The impact of these new restrictions on predictive health cancer research will be especially felt in 17 regions that are part of the National Cancer Institute’s network. According to Kolata, these regions use personal health records provided by hospitals to investigate "cancer risk factors and outcomes" and to "provide data to academic researchers who are doing studies and need to interview patients or need genetic information."While a few states have agreed to sign the directive, many others are holding out--most notably, the state California. States complain that the directives place too many restrictions on the use of the data and that complying with these conditions is both expensive and impractical. Tina Clarke, an epidemiologist at the Northern California Cancer Center estimates that the directive will add over a year to the ethics review process. Clarke added, "Privacy concerns are serious … [b]ut at the same time, this is a baby with the bath water problem." -- J.O.
1. In the next few weeks, as the public begins to digest this news, many cancer patients will be surprised to discover that their medical records and personal information are available for research. Will this story reduce public support and willingness to participate in predictive health research?
2. As Kolata reports, the VA'S chief of research and development, noted that "the department was especially sensitive to privacy concerns in light of incidents like the theft by teenagers last year of a laptop computer containing personal information on 26.5 million veterans." The new directive does not, of course, provide information and privacy protections that would have prevented the theft of a laptop. Will the VA's new policy truly provide the information security and privacy protections that patients expect?
VHA DIRECTIVE 2007-023 (pdf) - RELEASE OF VA DATA TO STATE CENTRAL CANCER REGISTRIES. 15 August 2007. Department of Veterans Affairs -Veterans Health Administration.
Wednesday, October 3, 2007
DNA storage is being offered by funeral directors and retailers around the world. But it raises a few important questions – how necessary or useful is a dead person’s DNA, and is the retrieval of DNA from someone who has not given consent ethical?
In part 2 (August 29), he notes:
The most important concern about DNA retrieval from the deceased is the question of consent. Unless the deceased was asked before death, retrieval is without consent. Currently, however, you can obtain and analyze anyone’s DNA without consent, so perhaps this isn’t as radical as it seems.
Bettinger's musings stress the importance of individual autonomy--a value that societies often try to protect by requesting "informed consent" or "advanced directives" from willing tissue donors. In the United States many legal drivers have considered the option to consent to organ donation in the event of a fatal accident. Consent, however, for DNA retrieval in such a circumstance, seems somehow out of place … but why? Why isn't DNA retrieval from a recently deceased person protected and facilitated in the same way as is retrieving an eye-ball for transplant or research? Perhaps the latter, organ "retrieval" without a donor's advanced directive, breaks a deep-seated cultural taboo against the mutilation of the human body. If so, why doesn't the thought an unauthorized retrieval of a deceased person's DNA, arouse a similar sense that the human body has been violated? Do we "own" our DNA any less than we own our eyeballs? Is it a matter of aesthetics--DNA retrieval doesn't botch the open casket? Or scarcity? DNA is more common than spit; perhaps we fail to feel as possessive of a bit of human material we are not likely to miss? Or, maybe we just do not include DNA in our concept of the body … How is DNA a part of us? Is it merely information about the body or is it a part of the body our advanced directives are meant to protect?
These are only some of the questions we should consider while entering an era in which the promise of genetic genealogy, genetic research and personalized medicine encourages the practice of DNA biobanking. These are not questions we should leave to funeral directors and the retailers of direct-to-consumer DNA tests. Therefore, The Genetic Genealogist, and many of the other fine blogs at The DNA Network, should be applauded for doing their part to encourage public discussions of these issues.
Wednesday, September 26, 2007
Parents Required to Opt-Out
MDH has been collecting and storing newborn blood specimens since 1997; however, in 2003 the legislature added a provision which required parents to sign a form to indicate they wanted the blood specimen destroyed after the screening tests. If parents do not sign this form, the MDH stores the specimen indefinitely and uses it, as well as disseminates it to other institutions, for genetic research to develop new screening tests.
CCH maintained that MDH’s assumption they could retain the blood specimens if parents did not specifically request their destruction was faulty and ran counter to other Minnesota laws. ALJ Neilson and Chief ALJ Raymond Krause ruled that the original law did not expressly authorize retention or research use and could not be justified based on an assumption. Over MDH’s vigorous objections, ALJ Neilson held that the collection, retention, and use of the blood specimens must be interpreted along with Minnesota’s Genetic Privacy Act (144.125, Minnesota Statutes 2006). This law explicitly requires that an individual’s genetic specimen:
A Losing Strategy
The MDH, in this controversy, exemplifies the creative lengths to which parties will go to evade the laws which seemingly obstruct research progress. Although Minnesota's government sponsored projects and research to improve public health are worthy endeavors, they are not exempt from privacy protections. Here, MDH’s failure to comply with the law’s provisions requiring actual consent is a grave shortcoming. There is no question that newborn blood screening tests have been essential for early detection, diagnosis, and proper treatment of debilitating diseases. MDH estimates that Minnesota screens more than 73,000 newborns and diagnoses approximately 100 infants with disorders annually (Report of the Administrative Law Judge Barbara L. Neilson In the Matter of the Proposed Amendments to Rules Governing Newborn Screening, Minnesota Rules, Chapter 4615, January 23, 2007-- 11-0900-17586-1).
The MDH has recently announced they are working with legislators to create new screening policies that will comply with the law; in the interim, the department is retaining all specimens. As the policies are revised, let's hope that the MDH avoids the quiet paternalism of its recent practices. As the controversy demonstrates, such behavior sparks backlash and eventually leads to loss of public trust. Although the MDH may have realized some immediate gains in collecting blood samples for research, bypassing the community and the law is not a long-term strategy for success. If parents lose faith in state departments of health, they may refuse to donate newborn blood samples for research or, in the worst case, these parents may refuse newborn screening for their children. In such a scenario, the ultimate "ends" are lamentable and the "means" are unjustified; everyone loses: parents, children, researchers, communities, and industries. -- K.D.
[Katherine Drabiak is a 3rd year law student at the Indiana University School of Law-Indianapolis. She is interested in issues related to genetic privacy and conflicts between federal and state regulations which result in legal ambiguities in field of biomedical research.]
Friday, September 21, 2007
Helft PR, Champion VL, Eckles R, Johnson CS, Meslin EM. Cancer Patients' Attitudes Toward Future Research Uses of Stored Human Biological Materials. JERHRE. 2007; Sept;2(3):15-22.
Abstract: THE POLICY DEBATE CONCERNING INFORMED consent for future, unspecified research of stored human biological materials (HBM) would benefit from an understanding of the attitudes of individuals who contribute tissue specimens to HBM repositories. Cancer patients who contributed leftover tissue to the Indiana University Cancer Center Tissue Bank under such conditions were recruited for a mail survey study of their attitudes. Our findings suggest that a clear majority of subjects would permit unlimited future research on stored HBMs without re-contact and reconsent, and a significant minority appear to desire ongoing control over future research uses of their tissue. These differences merit further investigation and suggest that a policy of blanket consent for all future, unspecified research would be premature.
[Note: PredictER Blog will announce more research from on attitudes toward predictive health research in the near future.]
Monday, September 10, 2007
I doubt whether there is a single undergraduate who gains acceptance to medical school who cannot identify the names Watson or Crick or explain the basic function of DNA. By now, most students are also aware of the recent completion and publication of J. Craig Venter’s genome. Nevertheless, discussions with my peers suggest that medical students may not be fully prepared for the medical and ethical implications of recent genetic research. Predictive health research discoveries are taught, but the potential clinical applications are lost in translation--stuck somewhere on the path from the bench to the bedside . . . or, in my case, from the pages of the textbook to the patient.
For my generation of medical students, predictive health research has the potential to significantly change the practice of medicine. While programs like the Personal Genetics Education Project at Harvard are building interest in predictive health, and while the public is flooded by a confusing array of genetics news reports, what are medical schools doing to prepare future physicians for the predictive health revolution?
Medical students and educators should step up their efforts to join the conversation about the clinical promise and ethical issues of predictive health. We need to start thinking and talking about how we make use of the predictive tools we already have and how we will prepare for future tools. For example, how many of us are ready to explain to new parents the meaning of normal newborn screening results? Are we fully prepared to share the non-watered-down reasons for why we may want a fifty-year old man to get a colonoscopy? Are we ready to address the anxieties of a patient considering a genetic test to better determine her risk of breast cancer? Clearly, students and bloggers like Bertalan Meskó at ScienceRoll are doing their share to spread the word, but we should encourage our mentors and professors to join the discussion. What is the current state of predictive health, and where can we expect it to advance?
[Note: To encourage a public discussion of the ethical, legal and social implications of predictive health research, PredictER Blog will be inviting guest contributions from students, professionals, and interested members of the public. This post from Pat Barrett, a fourth year medical student at the Indiana University School of Medicine and a graduate student of the Indiana University School of Philosophy, is a fitting introduction to this new feature of PredictER Blog. -- J.O.]
Tuesday, August 28, 2007
PredictER News Brief is a tool for readers interested in the ethical, legal, and social implications of predictive health research. In the near future PredictER News Brief will offer RSS feeds. At this time requests for email subscriptions from PredictER’s Gmail account are welcomed; the digest is published biweekly on PredictER’s web site; visit the tab. “News Digest”. Additional information services and research tools (including: web accessible research databases, subject guides, custom search engines, and a full-text digital library) are currently under development.
Sunday, August 19, 2007
Clarian joins many large employers who are attempting to cut health care expenses by offering or requiring health appraisals and incentive-based health promotion measures. As reported by Jessica Marquez in “Being healthy may be its own reward, but a little cash can also help keep works fit” companies (including Delta, Sprint and IBM) are discovering that merely offering a wellness program does not change employee behavior (Workforce Management, September 2005, pp. 66-69 [link requires login]). In fact, as of 2002, Hewitt Associates found that health risk appraisals are increasingly used to refer employees to health intervention programs and 40% of the 960 companies offered financial incentives for participation and/or progress.
Clarian’s announcement drew national attention; negative incentives (docked paychecks) are seldom reported. Coverage in the IndyStar, the La Times and on MSNBC’s TODAY prompted comments from some of the most widely read health and bioethics blogs. Some of these posts, like Kelly Hill’s “Shape Up or Pay Up” (Women’s Bioethics Blog, 30 July 2007), point to the genetic factors in many health conditions and question the fairness of financial disincentives. Hill writes:
- [S]hould obesity, high blood pressure, and high cholesterol – things that can be genetic—be looked at with the same light [as smoking]? Should you have to pay $60 a month because your father gave you his high cholesterol?
Arthur Caplan, in “Privacy is the true price of healthy worker discounts” (blog.bioethics.net, 16 August 2007 and MSNBC’s Breaking Bioethics, 15 August 2007), echoes Hills concerns about genetics in the context of personal responsibility:
- Who will be next? The guy who skis on the weekends? The woman who wears high heels? What about the family that decides to have a baby, knowing the child may have sickle-cell disease or cystic fibrosis? Will companies be willing to put up with that sort of personal “irresponsibility”?
Caplan’s comment points to an interesting question for the ethics of predictive health. What are the “responsibilities,” personal or social, that accompany a predictive appraisal of one’s health risks? Do individuals with a family history of heart disease have a personal obligation (for the good of the community) to eat well and exercise? If so, who will define and adjudicate these “responsibilities”? Government agencies? Employers? Physicians?
Sunday, August 5, 2007
PredictER Blog will not post during the week of August 5. If you are interested in other blogs on bioethics, genetics research, predictive and personalized medicine, visit PredictER's Blog Roll:
The Daily Transcript
Eye on DNA
The Genetic Genealogist
The Personal Genome
Philosophy and Bioethics
Friday, August 3, 2007
A recent publication on pediatric genetic testing for nicotine addiction reported the results of an attitudes survey of 232 health providers attending a conference on adolescent health. In "Interest in Genetic Counseling and Testing for Adolescent Nicotine Addiction Susceptibility ... ", the authors from the Lombardi Comprehensive Cancer Center at Georgetown University (Kenneth Tercyak, Beth Peshkin, Anisha Abraham and Leslie Walker) examined correlates in providers' interests:
- Providers who engaged in more regular tobacco screening behaviors with their adolescent patients ... and those who were more optimistic that biobehavioral research would lead to significant improvements in adolescent smoking prevention and treatment ... , were more interested in counseling and testing.
- Tercyak KP, Peshkin BN, Abraham A, Wine L, Walker LR. Interest in genetic counseling and testing for adolescent nicotine addiction susceptibility among a sample of adolescent medicine providers attending a scientific conference on adolescent health. J Adolesc Health. 2007 Jul;41(1):42-50. [Abstract at PredictER Connotea.]
Genetic testing for addiction could have far reaching implications in the criminal justice system. A press release from The University of Texas Health Center at Tyler ("Four researchers at UT Health Center receive grants ... ".News & Information. Thursday, July 19, 2007) announced a four year of $1.76 million from the NIH to study the ethical, legal, and social implications of the non-health use of personal genetic data. Genetic tests could be used, for example, in determining the length of sentences for offenders with genetic risks for addiction. The project will:
- · Create an open-access online database of the current criminal and sentencing laws employing drug addiction information;
- · Survey the attitudes and information needs of drug-court judges, corrections officers, and drug treatment professionals regarding genetic research and the science of addiction;
- · Engage these stakeholders in public discussions of the issues;
- · Develop an open access, online resource for training, education, and reference materials on the subject.
- We hope that our findings have some influence on the development of state laws and policies for the use of this genetic data in these settings. Right now there’s no uniformity. Jurisdictions may treat this information very differently.
Tuesday, July 31, 2007
Readers interested in casual discussions on the future of medicine at the cross-roads of genetics research, electronic medical records, and the internet will find plenty to read in recent blog entries using the terms "Medicine 2.0" or "Health 2.0". Advocates of the subject, include Bertalan Meskó, a medical student at the University of Debrecen (Hungary). Meskó, who monitors and writes about the topic in his blog ScienceRoll, holds that "the new generation of web services, will [play] (and already is playing) ... an important role in the future of medicine. These web tools, expert-based community sites, medical blogs and wikis can ease the work of physicians, scientists, medical students [and] ... medical librarians". In addition to regular posts on his blog, Meskó also edits a weekly blog carnival (an index or review of blog entries) on the subject, entitled Medicine 2.0. Mesko's ScienceRoll also contributes entries on genomics, clinical genetics, genetic testing, and personalized medicine.
"Medical Ethics 2.0"
Science Roll, July 19, 2007 and Medicine 2.0, hosted recently by J.C. Jones at HealthLine Connect were among several blogs citing "Medical Ethics 2.0", published July 16th by Jason Bobe at The Personal Genome . [Others citing Bobe include: Philosophy and Bioethics and The CEP Library.] Bobe discusses the possibility that future users of online genealogy services may begin to add medical information to their family trees. Following his review of the BMJ “Head-to-Head” feature: “Should families own genetic information?” [BMJ 2007;335:22 (7 July), doi:10.1136/bmj.39252.386030], he questions how user-generated genetic information and Web 2.0 technologies would complicate the ethical problems of privacy and disclosure.
Medical Ethics 3.0?
In "Health care eyes Web 3.0" (Government Health IT, 16 July 2006), Brian Robinson reports on developing Semantic Web technologies and their anticipated impact on the medical formatics and health care provision. The Semantic Web uses Resource Description Framework (RDF), Web Ontology Language, and other ontologies to "ascribe meaning to data depending on the context in which it is used". The Semantic Web is expected to provide, for example, the ability to "identify data related to age, weight and diseases, and ... then deliver that data based on the context of a query". Projects in development include: rules-based diagnostic decision-support systems for Partners HealthCare System (Boston) and a public health surveillance system under the direction of Parsa Mirhaji at the University of Texas Health Science Center at Houston.
In addition to Mirhaji, comments are provided from Dean Giustini (Biomedical Branch Library, University of British Columbia), Vipul Kashyap (Partners HealthCare), and Bob Shimp (Oracle's Global Technology Business Unit). The story does not, however, explore the social and ethical implications of the Semantic Web for medical research.
Wednesday, July 25, 2007
Greg Dahlmann, in yesterday’s posting on The American Journal of Bioethics’ editors’ blog (blog.bioethics.net) provides a comment on the use of the term "wrongful birth" and a brief summary of the case. blog.bioethics.net links to the following news sources:
- Couple awarded $21 million in Florida 'wrongful birth' case. Tampa, Florida (AP). CNN.com/us, July 24, 2007.
For 'wrongful birth,' $23.5M: A jury sides with a family over a USF geneticist's "rotten advice." By Colleen Jenkins, St. Petersburg Times, July 24, 2007.
USF, Physician Liable For Botched Diagnosis. By Thomas W. Krause. The Tampa Tribune, July 24, 2007
A Wrongful Birth? By Elizabeth Weil. The New York Times Magazine, March 12, 2006.
A recent article by Carolyn Chachkin, What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care, published in the American Journal of Law & Medicine (2007. Vol. 33, No. 1, 9-53) provides a review of the many ethical, legal and social implications of prenatal genetic diagnosis; these include “wrongful birth” lawsuits.
Thursday, July 19, 2007
Yesterday, July 18, 2007, Senators Leahy and Kennedy introduced legislation to revise HIPAA. Although Section 215 makes disclosure exceptions for “Law Enforcement, National Security, and Intelligence”, the new bill would tighten HIPAA loopholes. The bill “requires that any health information intended to be used for medi[c]al research first be stripped of personally identifying information to protect an individual’s privacy”. Senator Leahy's website provides a copy of the statement and a summary of the legislation: http://leahy.senate.gov/press/200707/071807c.html
Additional Excerpts from Leahy’s Statement:
- Our bill also requires that patients be notified of a data security breach involving their health information within 15 days of discovery of the breach. ....
[O]ur bill addresses the growing fear of many Americans that they will not be able to obtain important health information about a parent or child in situations involving a medical emergency, because of confusion about the requirements of current health privacy laws. ....
The bill also establishes a national office of health information privacy within the Department of Health and Human Services to aid American consumers in learning about their health privacy rights. ....
The bill makes it a federal crime to knowingly and intentionally disclose or use sensitive health information without an individual’s consent. Violators of this provision are subject to a criminal penalty of up to $500,000 and up to 10 years in prison, if the violation is committed with the intent to sell or use sensitive health information for economic gain.
To read the full statement and a summary of the legislation: Visit Sen. Leahy's press release at: http://leahy.senate.gov/press/200707/071807c.html
Sen. Leahy cites “Keeping Patients’ Details Private, Even From Kin”. July 3, 2007, The New York Times.
Also see: “Senators introduce stringent health records privacy bill”. Government Health IT, July 18, 2007.
Wednesday, July 18, 2007
WHITE PLAINS, N.Y., JULY 11, 2007 - Nearly 90 percent of all babies born in the United States - more than double the percentage in 2005 - live in states that require screening for at least 21 life-threatening disorders, according to the latest March of Dimes Newborn Screening Report Card. [Read more ]
Related Resources: In addition to last week’s press release (excerpt above) visit the March of Dimes PeriStats site for related statistics, “report cards”, and basic GIS maps. For additional maps, including a U.S. map linked to state genetic services plans, visit a PeriStats collaborator, the National Newborn Screening and Genetics Resource Center.
Friday, July 13, 2007
A top-down approach to genetic networks. July 5, 2007. From p-ter at Gene Expression.
Comments on data mining health records to correlate hereditary disorders.
ENCODE. July 4, 2007. From Alex Palazzo at The Daily Transcript. A summary and critique, for the general reader, of: “Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project”. Nature 447, 799-816 (14 June 2007) doi:10.1038/nature05874.
Ownership and Genetic Information
One Big Happy Family Genome, July 7, 2007. From Hsien-Hsien Lei at Eye on DNA. Lei comments on the BMJ “Head-to-Head” feature: “Should families own genetic information?” BMJ 2007;335:22 (7 July), doi:10.1136/bmj.39252.386030.AD.
Towards a World without Genetic Diseases July 7, 2007. From Bertalan Meskó at ScienceRoll.
Mentions recent genetic research advances on muscular dystrophies and potential technologies to speed translation.
Indian genetic database offers R&D advances, July 7, 2007. From Albin Paul at Microarray Blog. Describes the work of The Indian Genome Variation Consortium, including: “data on the genetic codes of over a 1,000 genes from among 15,000 individuals belonging to Indian sub-populations”.