Newborn Blood Spot Banking in Canada

A controversy that began in Minnesota and Texas has spread north of the Canadian border to British Columbia. The BC Civil Liberties Association (BCCLA) is opposing the potential research use, without parental consent, of 800,000 newborn blood spots stored in a facility operated by Iron Mountain of Burnaby, B.C. The BCCLA published a press release on May 12 explaining its opposition and its concerns regarding B.C. Legislative Assembly 2010, Bill 11. The BCCLA describes Bill 11 as: "a grab bag of miscellaneous legislative provisions, including sections 165-167 that give the Minister of Health power to collect, gather, use and share personal information without any notice to or consent from affected individuals."

In addition to opposing Bill 11, the BCCLA's David Eby and an unnamed parent are challenging the privacy practices of the B.C. Newborn Screening Program operated by the B.C. Women's Hospital. The hospital's president, Dr. Jan Christilaw, insists (in The Province), “No researcher is actually going to walk out of there with someone else’s blood.” However, at CBC News, the Screening Program's director confirms "some of the samples have ... been used by medical researchers to establish 'normal values and ranges'" to improve testing methods. Nonetheless, privacy advocates are not satisfied. The Globe and Mail (and others) quoted one worried parent, Rhian Walker:

“This was never, ever explained anywhere to me .... I think this would change a lot of parents’ perception of that test. You’re trying to do what’s best for your baby, so I’m a bit taken aback to learn that now that information is being stored and utilized in a way that I haven’t given consent for.”

Although, Eby wants samples stored without consent to be destroyed, Christilaw confirmed in The Vancouver Sun that "staff are finalizing an opt-out part of the program, so parents will be able to decide up front if they wish to participate in the screening."

While BCCLA's advocacy may or may not slow the progress of Bill 11, will it discourage the uptake of a valuable public health service?

Related:

Katherine Drabiak-Syed. Newborn blood spot banking: approaches to consent. PredictER Law and Policy Update. Indiana University Center for Bioethics. March 12, 2010.
Jere Odell. Newborn Blood Spots, Biobanks, and the Law: Research Ethics in the News. Indiana Bioethics. February 2010.
Link: National Newborn Screening and Genetics Resource Center

Other Predictive Health Ethics News

Dan Vorhaus. DNA Spit Kits Off Walgreens’ Shelves? Try Amazon.com. Genomics Law Report. May 13, 2010.
Michael Rugnetta. FDA Intervention Shelves Plan for Drugstore Genome Tests. Science Progress. May 13, 2010.
Andrew Pollack. Walgreens Delays Selling Personal Genetic Test Kit. The New York Times. May 12, 2010.
Courtney Hutchison. Over-the-Counter DNA Testing: Wave of the Future or Waste of Money? ABC News. May 11, 2010.
Philippa Brice. US genetic discrimination complaint. PHG Foundation News. May 7, 2010.
Sound Ethics. The Immortal Life of Henrietta Lacks. Sound Medicine. May 2, 2010.
Bridget M. Kuehn. NIH Launching Genetic Test Registry. JAMA. 2010;303(17):1685.
Keith Doyle. UK Biobank 'close to signing up 500,000 participants'. BBC News. April 24, 2010.
Nuffield Council on Bioethics. Human bodies in medicine and research: consultation. Nuffield Council on Bioethics. April 19, 2010.
Larry Greenemeier. Case Studies Reveal that Patents Can Hinder Genetic Research and Patient Care. Scientific American. April 16, 2010.

- J.O.

Havasupai Tribe and Arizona State University Settlement Agreement: ASU to Return the Blood Samples

On April 21, 2010 the New York Times reported that the Havasupai tribe and Arizona State University (ASU) arrived at a settlement agreement relating to litigation over ASU’s alleged misuse of the Havasupai tribe’s blood samples originally collected for diabetes research. (Visit our forthcoming Human Specimen Collection, Biobanking, and Genetic Research Law and Policy Update for more information on the case.)

After millions of dollars spent on litigation in various suits, the tribe and ASU entered into the settlement agreement in March of this year. The settlement contains several provisions including details for ASU’s performance obligations such as:

(1) ASU will pay the plaintiffs a sum of $700,000;

(2) ASU will return all blood samples in its possession; and

(3) ASU will return documents such as lab books and genealogy materials containing research derived from the blood samples, it will direct IRBs at the universities involved in the suit not to approve ongoing or new research using the samples, and it will provide the tribe a list of entities to which it previously transferred the samples.

The settlement agreement also set forth a creative five year collaborative between ASU and the tribe designed to address the tribe’s needs in the areas of education, health and nutrition, economic development, architecture, engineering, and legal governance. Several of these provisions include pursuing funding opportunities to build a high school near the reservation, partnering ASU nursing students to provide clinical care in Supai village, and working with the tribe to develop business plans related to its tourism programs.

Like many other settlements, this agreement specified a monetary exchange. ASU's transfer of $700,000 (split among the forty-one plaintiffs) seems nominal compared to plaintiffs’ request for $25 million in compensatory damages and $25 million in punitive damages. However, unlike other agreements, the money was arguably not the central concern here and would never alone be sufficient to remedy plaintiffs’ alleged damages without addressing the use and possession of the blood samples.

The return of the samples and research materials highlights several important issues that suggest our current standards and assumptions governing biobanking research are inadequate to address the needs of all research subjects, especially if blood and DNA is particularly significant to a group's cultural values and sense of identity.

First, subjects must be fully informed when they provide consent to use their blood for genetic research and the scope of the research should not exceed the original consent. Second, using the blood for purposes beyond the scope of the original consent may present serious dignitary concerns that researchers may overlook because the substance of these concerns may not even register as a possible harm or risk. Indeed, one of the ASU researchers maintained she was advancing important research and refered to the tribe's claims as "hysterical." Lastly, the importance of how the samples are (mis)used can be so vital to a particular group that return of the samples may be the only mechanism to fully remedy the group’s alleged dignitary harms.

-Katherine Drabiak-Syed

In the Literature: Altruism, the Self and Genetic Research

Ethicists and medical researchers often think about the barriers to participation in research. People want to know exactly what keeps potential participants away from a valuable research project? Likewise, many want to know what could be done to (safely and fairly) lower the barriers to participation in research. The opposite question, however, is equally interesting: Why do people do it? What motivates patients and others to consent to medical research?

Nina Hallowell, et al. examine these questions in the context of cancer research and biobanks in their recent paper “An investigation of patients’ motivations for their participation in genetics-related research” (J Med Ethics. 2010 Jan;36(1):37-45). The authors conducted interviews with 59 patients formerly enrolled in research studies at a regional genetics service (Wessex Clinical Genetics Service, Southampton, UK). After pouring through what must have been a large stack of transcripts, the authors identified three frequently expressed motivations: 1) “Selfish” – subjects expected to benefit from the research by receiving better care or other rewards; 2) Familial altruism – subjects wanted to contribute to efforts that might help future cancer patients (including grandchildren) in their families; and 3) Social altruism – subjects expressed a desire to do something that would benefit society and improve the health of all. After using these categories to evaluate the motivational statements, the authors declined to assert that any single type was a sufficient description of why patients consent to genetic research studies. They write: "these framings were frequently juxtaposed within the interviews, so that, in practice, it was difficult to characterise interviewees’ accounts as either self- or other-oriented". And again: "drawing upon any one motive to account for one’s behaviour in this context is not sufficient, for each motive would appear to impact upon, alter and modify others in a recursive or dynamic fashion".

They also provide a graphic to help us visualize the inter-related motivators in the genetic research participation engine:


My thoughts:

While I do not doubt that motivations are multi-layered and that a single individual may be motivated simultaneously by personal need and social altruism, I think the authors decided to down play the importance of the "personal framing" (or “selfish reasons”) in subjects’ decisions to consent to genetic research. In fact, the paper reports: "The majority of interviewees, like P124, offered personally motivated reasons for their research participation at some point in their interview". The importance of self-centered motivations is also clear in the graphic above. In other words, while it may be difficult to untangle these motivations, the gears might stop turning altogether if one were to remove "personal framing". I do not think the authors would disagree with me (and if they read this post, they are more than welcome to comment); perhaps the authors do not want to lose the point that altruism cannot be a stand-alone motivator. In fact, the discussion ends with a compelling statement:

Such observations suggest that we may need to rethink the concept of altruism … the “moral character of research participation”. Also, as we noted earlier, we need to recognise that when it comes to accounting for research participation we can no longer regard altruism and selfishness as incompatible or oppositional concepts. Indeed, it would appear that research participation is experienced as a more ethically contentious activity than has heretofore been assumed.

Reference:

Hallowell N, Cooke S, Crawford G, Lucassen A, Parker M, Snowdon C. An investigation of patients' motivations for their participation in genetics-related research. J Med Ethics. 2010 Jan;36(1):37-45. PubMed PMID: 20026692.

Related:

Dixon-Woods M, Tarrant C. Why do people cooperate with medical research? Findings from three studies. Soc Sci Med. 2009 Jun;68(12):2215-22. Epub 2009 Apr 24. PubMed PMID: 19394741.

Geller G, Doksum T, Bernhardt BA, Metz SA. Participation in breast cancer susceptibility testing protocols: influence of recruitment source, altruism, and family involvement on women's decisions. Cancer Epidemiol Biomarkers Prev. 1999 Apr;8(4 Pt 2):377-83. PubMed PMID: 10207643.

Treloar SA, Morley KI, Taylor SD, Hall WD. Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis. Community Genet. 2007;10(2):61-71. PubMed PMID: 17380055.

Other Recent Predictive Health Ethics Articles – PubMed, Nov 2009 -Jan 2010

-- J.O.

Lawsuit Challenging Myriad’s BRCA1 and BRCA2 Patents Will Go Forward: Judge Rejects Defendants’ Attempts to Preclude Plaintiffs’ Day in Court

Association for Molecular Pathology v. United States Patent and Trademark Office, Civil Action No. 09-4515 RWS ((S.D.N.Y. 2009) known as the lawsuit against Myriad Genetics challenging its gene patents related to BRCA1 and BRCA2 will go forward.

On November 1, 2009 Judge Robert Sweet handed down an order denying the defendants’ motion to dismiss. In the 85 page order, Judge Sweet accepted many of plaintiffs’ arguments set forth in the complaint and accompanying affidavits, finding that the court may properly hear the case and plaintiffs may properly sue each defendant.

The court flatly rejected defendants’ assertion that plaintiffs could not use the court as an arena to challenge questions of patentability.

Judge Sweet declined to adopt defendants’ arguments that the existence of the Patent Act as a comprehensive statutory scheme demonstrates Congressional intent to provide an internal remedy and preclude judicial challenges of the nature in this suit. The court noted that despite the USPTO’s statutory scheme to address patent questions, it does not provide a comparable statutory framework to raise Constitutional concerns and provide remedy accordingly; thus, plaintiffs may still bring an action to enforce the asserted Constitutional rights.

The court’s arrival at this reasoning is closely connected to Judge Sweet’s lengthy description of why the plaintiffs’ allegations of Constitutional violations are adequate and why the Court will not grant defendants’ motions to dismiss. The order described plaintiffs’ assertions that Myriad’s patents in question grant Myriad ownership rights over products of nature, laws of nature, natural phenomena, abstract ideas, basic human knowledge, and thought, which would violate the First Amendment. Additionally, plaintiffs pled that Myriad’s ownership of the patents in question inhibited further research, which would violate of Article I, section 8, clause 8 of the Constitution that directs Congress (and by delegation, the USPTO) to promote the progress of science.

The court also rejected Myriad’s arguments that plaintiffs could not show Myriad acted affirmatively to enforce the patents or that plaintiffs undertook meaningful preparation to potentially infringe the patents.

Judge Sweet adopted facts set forth in plaintiffs’ complaint and affidavits describing how Myriad sent out cease and desist letters to researcher plaintiffs and initiated two actions against infringers, demonstrating Myriad’s affirmative actions and willingness to enforce the patents. Importantly, the court further noted that given the widespread knowledge of the breadth of Myriad’s claims and its willingness to enforce its patents, a court would likely find that infringement of the patents would be considered willful and result in treble damages- meaning a scientist attempting BRCA research could be subject to extraordinary damages above merely compensating Myriad for any monetary losses.

Additionally, Judge Sweet accepted the researcher plaintiffs’ assertions that they are ready, willing, and able to infringe the patent because they are prepared to advance BRCA research, and or offer testing, and could do so within a matter of weeks. The court also noted that the plaintiff women affected by breast or ovarian cancer could take advantage of testing alternatives to find another test covered by their insurance or obtain a second opinion (options currently denied to them because of Myriad’s patents) that would potentially classify them as contributory infringers, meaning they could also properly sue the defendants.

The case moves forward and the court will hear parties’ oral arguments on motions for summary judgment on January 21, 2010. At this hearing, the court will decide whether there are genuine issues of material fact in dispute that would preclude the court from ruling as a matter of law for one party. If Judge Sweet’s order is any indication, a multitude of problems exist that are ripe for a hearing, and in the near future this court could squarely address these contentious issues arising from gene sequence patents. Perhaps finally the judicial system could address both the USPTO's and Congress' failure to re-examine patentability standards for gene sequences and decide whether issuing gene patents run contrary to Constitutional and statutory requirements.

-Katherine Drabiak-Syed

Data Sharing and Privacy: In the News

Roughly one year after the NIH and The Wellcome Trust restricted access to genome-wide association studies [see: Modifications to Genome-Wide Association Studies (GWAS) Data Access (NIH, August 28, 2008 - PDF)], data sharing is back in the news. In August, researchers in Tel Aviv and Berkeley announced a new method of protecting the privacy of individuals in genetic research studies. In the press release, one of the authors, Eran Halperin, alludes to the PLoS Genetics paper that led to the NIH's data access modifications (Homer N, et al.). As Halperin sees it, the "knee-jerk response stymied potential breakthrough genetic research." Perhaps he hopes that the new privacy approach will re-open the doors of safe data sharing. Halperin's method (published in Nature Genetics) uses a likelihood ratio (LR) test to measure the risk of exposing a single individual within a data set. Ultimately, the LR test limits the number of SNPs shared and thereby decreases the chances of privacy losses. If you would like to give this method a try, the software is available online (with registration) at SECUREGENOME.

In related news, The Toronto International Data Release Workshop (Genome Canada, May 2009) recently recommended the "rapid release of prepublication data" to speed the pace of scientific discover. The recommendation was published in a special, data sharing edition of Nature. The Workshop cites the Human Genome Project as an example of how sharing data leads to public benefits: "This experience ultimately demonstrated that the broad and early availability of sequence data greatly benefited life sciences research by leading to many new insights and discoveries, including new information on 30 disease genes published prior to the draft sequence." In a note addressing the human subjects concerns, the Workshop acknowledges the privacy risks: "Data about human subjects participating in genetic and epidemiological research require particularly careful consideration owing to privacy-protection issues and the potential harms that could arise from misuse. ... [F]or clinical and genomic data that are associated with a unique, but not directly identifiable individual, access may be restricted."

Will these developments (a proposed technical solution to the privacy barrier and a reaffirmation of the social benefits of data sharing) encourage the NIH and The Wellcome Trust to reduce some of the restrictions on data sharing? (I’d say: not yet.) While the safety of data sharing may be increased with technical solutions, it seems unlikely that all privacy risks will be eliminated. After all, if I share something "private" with you (or with anyone else), it's not so "private" any more. At the same time, if data access is restricted (for example, by using smaller, "safer" data sets), the public benefit of sharing resources declines. Clearly, we are looking for a way to eat our cake and have it too; protecting the individual's privacy while sharing for common benefits. Perhaps we should ask ourselves, what are the risks that we are willing to impose on individuals for the benefit of the common good? As an individual, exactly how private is your privacy? And at what cost?

References:

Homer N, et al. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet. 2008 Aug 29;4(8):e1000167. PMID: 18769715

Sankararaman S, Obozinski G, Jordan MI, Halperin E. Genomic privacy and limits of individual detection in a pool. Nat Genet. 2009 Sep;41(9):965-7. Epub 2009 Aug 23. PMID: 19701190.

Toronto International Data Release Workshop Authors, et al. Prepublication data sharing. Nature. 2009 Sep 10;461(7261):168-70. PMID: 19741685.

Other Predictive Health Ethics News

Nikki Tait. Pan-European biobanking moves closer. Financial Times. September 16, 2009.

Michael Rugnetta and Whitney Kramer. Paving the Way for Personalized Medicine. Science Progress. September 14, 2009.

Daniel Vorhaus and Lawrence Moore. What happens when a personal genomics company goes bankrupt? Genetic Future. September 14, 2009.

Caroline Wright. HGC public consultation on DTC genetic testing services. PHG Foundation News. September 8, 2009.

Over Ninety Per Cent Of Pathologists Find Research Rules Too Complex. Medical News Today, September 8, 2009.

Jane E. Brody. Buyer beware of home DNA tests. The New York Times. August 31, 2009.

Brad Therrell, Harry Hannon, Don Bailey, et al. Considerations and Recommendations for a National Policy Regarding the Retention and Use of Dried Blood Spot Specimens after Newborn Screening. Genetic Alliance. August 21, 2009.

Turner Ray. Lack of Physician Education, Genetic Counseling Could Ruin Value Proposition of PGx Testing, Insurer Says. Genomeweb: Pharmacogenomics Reporter. August 12, 2009.

The Genetics and Public Policy Center. Center publishes new survey of state false advertising laws. dnapolicy.org, August 11, 2009.

• Related: State Laws Could Cover DTC Gene Testing. GenomeWeb Daily News, August 13, 2009.

- J.O.

Children, Biobanks and Consent

In a recent policy forum published in the Science, ethicists argue in favor of a policy to recontact children once they reach "the age of consent" to seek permission for continued research on their DNA samples and data. The authors would make an exception for children with samples in disease-specific biobanks. As they see it, the therapeutic benefits of participation in the disease-specific biobank outweigh the risks to subject. While the authors acknowledge the difficulty of maintaining an active biobank while tracking samples and relocating subjects for adult consent, they point to the "long-term benefits of maintaining public trust in biomedical research".

In a related news story, Mats Hansson of Uppsala University in Sweden, Karen Maschke, of the Hastings Center, Ronald Green, director of the Ethics Institute at Dartmouth College, and other ethicists comment on the Science policy forum; see: Child DNA donors should have their say.

References

Gurwitz D, Fortier I, Lunshof JE, Knoppers BM. Research ethics. Children and population biobanks. Science. 2009 Aug 14;325(5942):818-9. PMID: 19679798.

Dolgin E. Child DNA donors should have their say. Nature News. August 13, 2009. doi:10.1038/news.2009.819.

Other Predictive Health Ethics News

Ameer B, Krivoy N. Direct-to-Consumer/Patient Advertising of Genetic Testing: A Position Statement of the American College of Clinical Pharmacology. J Clin Pharmacol. 2009 Aug;49(8):886-8. PMID: 19602717.

Boddington P. The ethics and regulation of direct-to-consumer genetic testing. Genome Med. 2009 Jul 20;1(7):71. PMID: 19638186

Bowen DJ, Harris J, Jorgensen CM, Myers MF, Kuniyuki A. Socioeconomic Influences on the Effects of a Genetic Testing Direct-to-Consumer Marketing Campaign. Public Health Genomics. 2009 Jul 28. PMID: 19641293

Darnovsky M, Reynolds J. The battle to patent your genes: the meaning of the Myriad case. The American Interest [Online]. September-October, 2009.

Giordano J. Quo vadis? Philosophy, Ethics, and Humanities in Medicine - preserving the humanistic character of medicine in a biotechnological future. Philos Ethics Humanit Med. 2009 Aug 14;4(1):12. PMID: 19682382

Serrano-Delgado M, Novello-Garza BI, Valdez-Martinez E. Ethical issues relating to the banking of umbilical cord blood in Mexico. BMC Med Ethics. 2009 Aug 14;10(1):12. PMID: 19678958

Wade N. Genes tied to gap in treatment of Hepatitis C. The New York Times. August 16, 2009.

Wade N. Cost of decoding a genome is lowered. The New York Times. August 10, 2009.

Wright C. Understanding DTC gentic risk prediction services. PHG Foundation News. August 14, 2009.

Wright C. Update on genetic non-discrimination legistlation. PHG Foundation News. August 10, 2009.

- J.O.

Translating ELSI – From a Conference at Case Western to the World

An exciting conference occurred last week in Cleveland, Ohio on the past, present, and future of research into the ethical, legal, and social implications genetics (so-called "ELSI" research). If the large number of interesting presentations at this conference is any indication, the field is flourishing. Although I saw relatively few presentations (I was only there for part of the conference), the discussions, the turnout, and the book of abstracts show the rigor and creative energy of a thriving, international group of scholars.

As part of a panel on Saturday morning (May 3rd), I presented a short talk entitled "PredictER: Indiana University's Experience in Translating Predictive Health Ethics Research into Practice". The presentation covered the work that we've been doing at the IU Center for Bioethics on the ethical and legal aspects of predictive health research. Other speakers in the same session described similar work under way in Kyoto, Japan and in Newfoundland, Canada. Genetics is truly a global field, and, thus, so is the project of examining the ethical, legal and social implications of the science and medicine. If we want to insure the ethical practice of genetic science and the equitable sharing of its benefits, the global participation exemplified by the work at this conference, must become a common feature in the investigation of the ELSI of predictive health research. – Peter H. Schwartz

Red Herrings and Sexy Science

Anyone feeling a bit overwhelmed by the frequency of news stories reporting new targets for personalized and predictive medicine, will grab some moral support from a recent article in The Washington Post. In "Science Is Leading Us to More Answers, but It's Also Misleading Us" (22 April 2008; HE08) David A. Shaywitz examines the ups and downs of the new biology. In contemporary genetic medical research the paradigm has shifted from investigating "a few favorite genes" to surveying "thousands of initial candidates" and browsing for "important players and pivotal networks". In Shaywitz's view, this has resulted in a lot of noise – sexy science headlines pointing to journals "littered with studies reporting 'disease genes' or 'molecular signatures' that are likely red herrings". This is exasperated by the fact that journals "have little appetite for negative results" and "erroneous results are almost never retracted". To address the hype in genetics, Shaywitz recommends better, more rigorous statistical analysis on the research front and increased caution and scrutiny by information providers and consumers.

One can hardly disagree with a call for better research methods, smarter journalism, and better reading habits, but where does that leave services like PredictER Blog and PredictER News Brief? Here at PredictER we are committed to investigating and addressing the attitudes and concerns of our communities – including: researchers, physicians, legislators and patients. Undoubtedly, some members of these communities will form opinions and pursue projects that leave them fishing for the sexy red herrings of genetic science. Others will develop policies and regulations based on the latest, suspect catch. Knowing this, I'm trying to keep up with the hype. I try to monitor the information, both to identify quality sources, but also to help our investigators assess the impact of the hype. Although the news headlines may not reflect the best science, they do have the potential to influence the public's willingness to participate in and support new medical research. Therefore, we're doing our best to engage the community, even if this means beginning the discussion with the latest hot topics and sexy headlines.

Insurance and Incentives: Private or Public?

[Sam Beasley, a law and bioethics student here at Indiana University, is a new member of the PredictER team. I asked him, as a way of introducing himself to PredictER's readers and friends, to share his thoughts on any topic relevant to the future of predictive health and personalized medicine. I think this is a good post and I hope that we will see more of Sam's contributions to PredictER Blog in the weeks to come. – Jere Odell]

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

Predict a Preterm Delivery: Grants from the March of Dimes

The March of Dimes announced today the 10 winners of its 2008 Prematurity Research Initiative grants. The awards were given to "scientists who are trying to stem the growing pace of preterm birth by studying the role genes and heredity play in premature births and how the rate of fetal lung development, infection and other factors may trigger labor". This year's awards include research projects to identify genetic variations associated with preterm delivery, genetic differences in African-American women who gave birth prematurely, a family history study in Scotland, and protein biomarker studies in Israel and Portland, Oregon. In the press release, the need for and goal of these grants are described with happy, eugenic [Gk, eu – gen = "wellborn"] overtones: “Most of the causes of preterm birth remain unknown. There is an urgent purpose for this research,” said Dr. Jennifer L. Howse, president of the March of Dimes. “We continue to work toward a future when every baby is born healthy.”

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?

The Genetics & Public Policy Center - Public Consultation Dates

The Genetics & Public Policy Center at Johns Hopkins University recently released the dates for its upcoming town hall discussions to "gather feedback from the public on their views related to a proposed large cohort study on the role of genes and environment in health". Meetings will be held March 8th (Kansas City, MO), April 5th (Phoenix, AZ), April 19th (Jackson, MS), April 24th (Portland, OR), and May 13th (Philadelphia, PA). These meetings follow similar meetings in the same cities last year. The scheduled "town hall" meetings are a part of the second stage in a two-year, $2 million pilot project funded by the National Human Genome Research Institute, "Making Every Voice Count: Public Consultation on Genetics, Environment, and Health". The results of last year's public consultations regarding the feasibility of a pediatric biobank were recently published in the American Journal of Medical Genetics:

Kaufman D, Geller G, Leroy L, Murphy J, Scott J, Hudson K. Ethical implications of including children in a large biobank for genetic-epidemiologic research: a qualitative study of public opinion. Am J Med Genet C Semin Med Genet. 2008 Feb 15;148(1):31-9. PMID:18189289

Genetic Research - Up to the Task? Educating Health Care Providers

In lively exchanges between bloggers from Gene Sherpas, Genetic Future, and Venture Beat, the ethical implications of private genetic testing and personalized medicine were explored and a number of issues were spotted (see comments from Steve Murphy, David P. Hamilton, and Daniel MacArthur). I find Steve Murphy’s compelling suggestion that physicians in clinical practice lack the time and interest to provide thoughtful guidance to patients on genetic testing and test interpretation both relevant to PredictER's program and worth further assessment.

Like nearly every other academic medical center in the United States, Indiana University (PredictER's home) is interested in determining what a large scale predictive health study would look like. More clearly, researchers are asking: what needs to be in place for a large study to successfully combine genetic information along with other health data and biographical information? To be sure, it could serve as a platform for researchers in almost any biomedical research field, but more to Steve’s point, is it practical or possible to role out a study of this kind in clinics and doctors offices? Is there enough interest and enough time for a primary care doctor to attend to this new type of information?

If there's a deficit of interest and time, this is the moment in which the life sciences community should work to develop both. This not so much a disagreement with Steve’s suggestion as a statement about the ultimate goals of predictive health--there is no doubt that the clinical world of primary care is already pressured to the point of precluding physicians from developing new interests or allotting additional time in their schedules, but balance this fact with the knowledge that the outcomes of predictive health remain to be measured. As the prevalence and usage of these tests increases, so will the understanding of how they are being used and interpreted. So, while many are interested in fostering new research platforms to identify targets for new tests, others (including PredictER) are interested in laying a foundation of ethics outreach, education, and assessment to guide the realization of translational science and personalized medicine. One strategy might be to engage busy, primary care doctors with incentives to pursue relevant continuing medical education prior to initiating fully integrated predictive health projects. To do so, one would need a flexible, responsive curriculum (perhaps an online learning module) available for any physician whose patients are or might be enrolled in a predictive health research study ... but what would issues and subjects would such a curriculum need to address? Here are a few that leap to mind:

- Structure of Predictive Health Studies
A bank containing genetic samples and future research projects drawing on this
- Longitudinal research: from Framingham to today
- Impact on Practice in Primary Care
Personalized medicine: prevention, prognosis, pharmacogenetics
- Ethical Issues
Informed Consent
Vulnerable populations
Confidentiality
Recontacting patients
Withdrawal
Return of genetic information
Selling genetic information

I'd be interested to see how PredictER Blog's readers would change this list. What do primary care physicians need to know? Any ideas?

Genetic Research: Groups and Potential Harm

Anyone interested in public engagement and community consultation in genetic research will appreciate Daniel Hausman's article "Protecting Groups from Genetic Research" (Bioethics 2008; 22 (3):157-65). Hausman provides a clear, well-written taxonomy of group types and potential harms to these types as a result of genetic research. He identifies three kinds of groups: structured groups – those with corporate interests distinct from the interests of their individual members (for example, indigenous groups with existing or potential corporate property); identifying groups – unstructured groups (Italian Americans or Ashkenazi women, for example); and potentially identifying groups – those that may be identified as a result of genetic research.

Hausman's taxonomy of harms includes two process-related harms (disrupting and stigmatizing harms) and two outcomes-related harms (undermining and stereotyping harms). Disrupting harms occur, he writes, "when the research process – regardless of its findings – harms a structured group". For example, "taking tissue samples in genetics research might have a ritual significance that could undermine group solidarity". The author thinks that these harms are relatively infrequent in genetic research.

Stigmatizing harms, in contrast, are more common. This process-related harm affects individuals of an identifying group when the mere existence of a genetic research study stigmatizes members of the group.

The third harm, undermining, (an outcomes-related harm) occurs when structured groups are hurt by the findings of genetic research. For examples, Hausman provides the refutation of beliefs about group origins, the loss of potential commercial gain, and the generation or justification of discriminatory treatment.

The fourth kind of harm, also an outcomes-related harm, stereotyping, affects members of identifying groups. If a member of an ethic group were denied insurance coverage because of a genetic susceptibility was perceived to be common to this group, this individual would be the victim of stereotyping.

As would be expected, given the complexities of developing local, national and international research oversight, civic legislation and public consultation, Hausman's proposed protections against these harms are not as well-defined. Here are a few highlights: IRBs - The author does not think that expanding IRB oversight is answer. He writes, "IRBs are not well suited to implement the necessary regulation ... there would be a duplication of oversight, and research would be stymied ... [and they] are not the right bodies to regulate the risks that scientific research poses to third parties." Group engagement – Although he thinks that efforts toward community consultation in genetic research grow "out of an admirable concern to be respectful to individuals and groups that the research may put at risk," the author argues that consultation is primarily valuable when conducting research with structured groups. In contrast, he thinks that consultation with identifying groups facing stereotyping harms (African Americans, for example) is "often infeasible". He writes, "Indeed, by lending salience to social groups, that may in fact be genetically heterogeneous, group consultation may be counterproductive". To protect groups from stereotyping, Hausman hesitatingly (fearing, perhaps, a decline in public support for research) advocates regulation.

Readers looking for more detailed suggestions for protecting groups from genetic research may be frustrated by this article. For example, the author concludes, regarding harms to indigenous groups, that "whoever regulates research (to the extent that research is regulated) should be concerned about the risks of undermining ... and should demand that researchers provide those they study with detailed information and the opportunity to make their concerns heard by political and regulatory authorities". To my ears, such a statement sounds too much like: someone should pick up this trash ... which is not an effective way to motivate people to clean a room. Readers may also wonder if Hausman too quickly dismisses the possibility of protecting the third group type in his taxonomy, "potential identifying" groups. While it is true that one can not consult with a group that is yet to be identified, does this mean that some protections can not be explored or established in advance?

While I hope that Hausman, or someone else, will pick up the loose ends that this article did not have the room to address, his taxonomy of groups and potential harms is very useful. If you can find a copy of this article (subscription required, unfortunately), it's worth reading. –J.O.

Reference: Hausman D. Protecting groups from genetic research. Bioethics 2008; 22 (3):157-65. [Abstract - CiteULike | doi:10.1111/j.1467-8519.2007.00625.x]

Genetic Research: Watson or Spears?

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.

Minnesota and Genetic Privacy: Why the Rule of Law is Good for Research

On March 23, 2007 Minnesota Administrative Law Judge Barbara Neilson ruled on the ongoing controversy regarding genetic privacy and blood specimens collected during newborn screening. The Citizen’s Council on Healthcare’s (CCH) claimed that the Minnesota Department of Health (MDH) was unlawfully retaining and using the specimens. In addition to prompting Minnesota privacy advocates like Craig Westover to ask: "Does the End Justify the Genes?", this dispute between the public health advocacy group and state raised the question: Is the government exempt from legal requirements relating to genetic specimens in the name of improving public health?

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:

May only be used for the purposes to which the individual has given informed consent;

May only be stored for a period of time to which the individual has given consent;

Requires affirmative consent to disseminate the 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).

What's Next?

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.]

SNP Combinations Predict Parkinson’s Disease

From GEN News Highlights, June15 2007.

A Mayo Clinic study provides evidence that explains why some people get Parkinson’s disease and predicts at what age they may develop their first symptoms. The researchers found that the joint effects of common DNA variations in several genes that encode proteins within the axon guidance pathway determine whether or not someone will suffer from Parkinson’s.

“By examining a large cluster of related genes, we found patterns that make people up to 90 times more likely to develop Parkinson’s than the average person,” says study co-author Timothy Lesnick, a Mayo Clinic biostatistician. “The size of the effects that we observed for genes within a pathway and the statistical significance of the predictive models were unprecedented.”

PredictER Note: SEE Lesnik TG, et al. 2007. A Genomic Pathway Approach to a Complex Disease: Axon Guidance and Parkinson Disease. PLoS Genet 3(6): e98 doi:10.1371/journal.pgen.0030098