Nuffield Council Reviews DTC Genetic Testing

The Nuffield Council on Bioethics recently released the results of a two year study: Medical profiling and online medicine: the ethics of 'personalised healthcare' in a consumer age (2010). The report devotes chapters to six "case studies" (these are not formal case studies, but rather topics for investigation), all are relevant to the ethical development and delivery of predictive medicine. The six case studies address: online health information, online personal health records, online purchasing of pharmaceuticals, telemedicine, personal genetic profiling for disease susceptibility, and direct-to-consumer body imaging.

However, the chapter on direct-to-consumer (DTC) genetic testing, 9. Personal genetic profiling for disease susceptibility, will be of particular interest to readers in the States. Three of the big names in DTC genomics are U.S. companies (Navigenics, 23andMe, and Pathway Genomics) and, given the price tag for services, much of the consumers are in the States as well. In general, the Council cautions that DTC genetic testing lacks a sufficient evidence base for reliable clinical use and that consumers should think carefully about the risks. Nevertheless, the workgroup does not oppose the market for DTC genetic testing, but rather advices companies to provide greater transparency regarding the evidence and the potential harms. On the regulatory front, the report proposes prohibiting the market for tests with no proven clinical utility. See 9.45:

We recommend that responsible authorities pay more attention to whether genetic test providers are making clinical claims for their products, even if implied rather than explicit (such as in their ‘customers’ testimonials’). If so, they should ask for evidence to be supplied. We direct this recommendation to authorities responsible for pre-market review and advertising standards, including the Medicines and Healthcare products Regulatory Agency and the Advertising Standards Authority in the UK.

The council also calls for government (UK) websites to publish the risks and limitations of DTC genetics, for restricting pediatric DTC genetic services, and for programs to educate healthcare providers who may need to discuss DTC genetic test results with patients.

In addition to the six "case studies" the report also provides a chapter devoted to ethical values the workgroup identified as well as the process of ethical reasoning it employed. The workgroup the following ethical values to consider:

1. The value of safeguarding private information;

2. The value of individuals being able to pursue their own interests in their own way;

3. The value of efforts by the state to reduce harm;

4. The value of using public resources efficiently and fairly;

5. Sharing risks, protecting the vulnerable: the value of social solidarity.

These values, of course, are often in conflict with each other. Thus, the workgroup employed a practical approach (not to resolve) but to "soften" conflicts, see 3.18:

[T]he approach we follow in this report is not so much to attempt to solve the dilemmas but to propose forms of oversight and voluntary conduct so that society can manage its way around them and reduce the conflict while gaining general assent. This approach means trying to accommodate as many as possible of the different values we have identified without giving one absolute priority over another.

I think this is a pragmatic approach, but (perhaps) too obvious to bear replicating. It might have been more interesting to learn how the workgroup identified the five ethical values it employed.

In addition to its well-considered case studies, and explained ethics practice, the report serves as a valuable review (with an emphasis on the issues in the UK) of the literature on the ethics of personalized and genomic medicine. It can be downloaded at no cost from the Council's website: http://www.nuffieldbioethics.org/

Other Predictive Health Ethics News

Tara Parker-Pope. Taking genetic history to the grave. Well (NYT Blog). October 28, 2010.

Rita Rubin. Most doctors are behind the learning curve on genetic tests. USA Today. October 25, 2010.

Laurie Udesky. The ethics of direct-to-consumer genetic testing. The Lancet. October 23, 2010.

Jessica Reaves. Stem Cell Research Skirts Hurdles, but Raises Ethics Issues, Too. The New York Times. October 22, 2010.

Philippa Brice. Loss of UK genetics public bodies confirmed. PHG Foundation News. October 15, 2010.

Experts warn about genetic tests. Reuters. October 12, 2010.

Matt Ridley. The Failed Promise of Genomics. The Wall Street Journal. October 9, 2010.

Amy Harmon. Stem Cells in Court, Scientists Fear for Careers. The New York Times. October 6, 2010.

Josephine Johnston. America’s Stem Cell Mess. The Scientist. October 1, 2010.

Dan Vorhaus. HHS Pulls the Plug on Genetics Advisory Committee. Genomics Law Report. September 23, 2010.

-- J.O.

California Department of Public Health Orders Changes to Berkeley's Genetic Test Program

Last week Berkeley altered its Bring Your Genes to Cal Program to stop the genetic test results from being disseminated back to participating students in response to an order from the California Department of Public Health (CDPH). Berkeley will still hold discussions and lectures based on the aggregate information as previously planned. [See our posting on the Bring Your Genes to Cal Program here.]

On August 11, Berkeley and CDPH met to discuss the program’s compliance with the California Business and Professions Code which requires that a physician order clinical laboratory tests. In a statement to CDPH, Berkeley asserted its program should fall under an exemption for labs performing tests as research where the results are not reported to patients as part of a medical or health assessment. Berkeley maintained that these statutory requirements were not applicable to its program because Bring Your Genes to Cal constituted an “educational experiment,” students are not “patients,” and the three specific gene variants tested are not disease related.


Despite these claims, the program would have returned genetic test results back to each student, which should be defined as part of a health assessment because the program directed students to use these results to inform their dietary and nutritional choices as well as make personal health decisions. According to Dean Schissel’s message to students in the informed consent video, these genetic test results would then allow them to take measures to improve their health such as eating more or less of a particular food, or avoiding alcohol if their test results showed an ethanol “allergy.” Schlissel’s assertion stretched the meaning of California’s exemption in denying that this “experiment” constitutes clinical laboratory tests or that this information is medically significant. Arguments over statuory construction closely parallel the current federal regulatory loopholes relating to DTC genetic tests.

As genomeweb observed, the semantic debate between Berkeley and CDPH is strikingly similar to the volleys between CDPH and DTC genetic test companies that occurred back in 2008. In June of 2008, CDPH had responded to consumer complaints and sent out thirteen cease and desist letters to DTC genetic testing companies, asserting that their policies did not comply with licensure requirements set forth in California law. Two of the targeted companies, 23andMe and Navigenics, asserted they offer an “informational service” providing personal genetic information and not “medical testing services,” so they did not need to obtain a license. CDPH agreed and granted licenses to Navigenics and 23andMe in August 2008.

Now, with Congress and the FDA scrutinizing the federal regulatory requirements, CDPH seems to be responding to the current political shift of opinion and the uncertainties related to providing genetic test results without a physician intermediary and oversight of the test's accuracy and validity. Or perhaps CDPH agreed with concerns in the defeated California Assembly Bill 70. This bill would have urged state schools within the California State University and University of California system from requesting students’ DNA for the purpose of genetic testing.

Defeated AB 70 also raised specific privacy concerns stemming from a university collecting students’ DNA samples for genetic testing and retaining students’ coded genetic information. Although Berkeley's program will incinerate students’ DNA samples following testing, it plans to keep students’ genetic information for further study. Data attack in GWAS studies exemplifies the principle that our understanding of data security relating to genetic information is uncertain, and we have continually underestimated the potential for security breaches. Dean Schlissel’s unwavering promises of absolute privacy seems naively optimistic given what we know in this area.

It seems this “teaching study” has given Berkeley and its freshmen more than they could have anticipated. In addition to the campus lectures about genetics and personalized medicine, students have already learned the ethical and legal complexities associated with emerging technology- the varied parties who have a say, the definition debates, and the unpredictability of the resolution.

--Katherine Drabiak-Syed

DTC Tests Face Scrutiny at FDA, by GAO, and Congress

Last week produced a flurry of activity at the FDA and before Congress relating to regulation of field of DTC genetic tests. Here is a summary:

At the FDA:

The FDA sent out additional letters to fourteen more DTC companies, stating that the companies’ respective tests constitute in vitro diagnostic devices subject to FDA regulation. These letters mirror the original letters sent out in June to 23andMe, Navigenics, deCODE Genetics, Knome and Illumina, which we discussed here and here.

On July 19-20, the FDA convened its Public Meeting on the Oversight of Laboratory Developed Tests to discuss the history and current regulatory status of LDTs and status of DTC genetic tests. The meeting was divided into four sessions to address:

• patient and clinical considerations;
• clinical laboratory challenges;
• concerns, benefits, and risks of DTC testing; and
• education and outreach so laboratories can comply with regulations and physicians are enabled use the genetic information provided in these tests

GAO Report:

On July 22, the Government Accountability Office released its report Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices and offered it as testimony during the hearing before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce in the House of Representatives.

The GAO posed as consumers and sent DNA samples from five people to four selected companies. It also examined a sample if fifteen companies’ advertising and marketing practices.
This report revealed numerous appalling flaws related to selected DTC test’s accuracy, company follow up with consumers, and consumer privacy protections. The report found the following five problems:

(1) each donor’s factual profile received disease risk predictions that varied across all four companies, indicating that identical DNA can yield contradictory results depending solely on the company it was sent to for analysis;

(2) these risk predictions often conflicted with the donors’ factual illnesses and family medical histories;

(3) none of the companies could provide the donors who submitted fictitious African American and Asian profiles with complete test results for their ethnicity but did not explicitly disclose this limitation prior to purchase;

(4) one company provided donors with reports that showed conflicting predictions for the same DNA and profile, but did not explain how to interpret these different results; and

(5) follow-up consultations offered by three of the companies provided only general information and not the expert advice the companies promised to provide.

Varied risk prediction from each company grossly undermines each company’s claim of superiority and accuracy, weakening the reliability of the test results. For example, a male “consumer,” age 48, received three different results about his risk for hypertension. One company claimed he had a below average risk of developing hypertension, a second company stated his risk was average, and a third company noted his risk was above average. Accordingly, if a real consumer would integrate this information to make lifestyles changes as advocate by one of the companies, he may be incentivized toward undesirable health behaviors based on a mistaken belief of lower risk.

A widely circulated YouTube video documented some companies’ dangerous blurring of risk and diagnosis during follow up with company representatives. Here is one example:

Fictitious consumer: “So if I’m high risk, does that mean I’ll definitely get breast cancer?”

Company representative: “You…you’d be in the high risk of, you know, pretty much getting it.”

The GAO classified this exchange as “horrifying” and “disconcerting.” It leads me to wonder how many real consumers received similar devastating and incorrect information when they attempted to follow up their own test results? How many went to their physicians with these results and remained unconvinced when the physicians attempted to reassure them? In the near future, these companies should brace themselves for the legal backlash that is sure to follow from consumers who experienced such troubling exchanges and may vent their anxiety and frustration in the form of legal complaints alleging negligence and emotional damages.

Before Congress

During the hearing on the Hill, Rep. Griffith echoed this cautious sentiment, suggesting when confronted with alarming genetic risk information, consumers are likely to panic first and ask questions later. The Genomics Law Report provides a summary of the hearing here.

Despite GAO’s conclusion that DTC companies provide results that are “ambiguous and misleading,” Rep. Burgess and Rep. Waxman voiced their disfavor of overly intrusive regulation and advocated for a system that would still allow consumers to access their personal genetic information.

However, the GAO report illustrates precisely why the model for these tests will continue to encounter problems without the guidance of a physician as gatekeeper and interpreter. In another exchange recorded on the YouTube video, a company representative tells one “consumer” he can eventually stop taking his prescription medicine for high cholesterol if he purchases and uses the company’s pricey vitamin supplements. Advice connecting risk to behavior and medication changes should require a visit to a healthcare provider, not a phone call to a faceless company representative with uncertain credentials.

Even if a company’s test is accurate and it ceases to disseminate misleading advice about the power of its supplements, consumers still want (and need) additional information and advice from healthcare professionals to interpret and act on the test results they receive.

-Katherine Drabiak-Syed

Berkeley Scheduled to Move Forward with Freshmen DNA Testing

Yesterday, Berkeley’s student newspaper The Daily Californian published on op-ed questioning Berkeley’s decision to move forward with its experiment designed collect DNA from consenting incoming freshman. The “Bring Your Genes to Cal” experiment originally made headlines over a month ago, when the New York Times and other major newspapers described the program and the corresponding polarized responses. In a few weeks, Berkeley is scheduled to send out information packets, informed consent forms, and buccal swab kits to the incoming freshman class to test for genetic variation related to their ability to process lactose, metabolize alcohol, and examine their levels of folic acid.

Mark Schlissel, MD, PhD, Professor of Immunology and Dean of Biological Sciences at Berkeley views the program as a lesson of how genetics and personalized medicine will impact students’ lives in the future. “We wanted to give students a sense of what’s coming, through genes that can provide them with useful information. I think it’s one of the best things we’ve done in years,” said Schlissel to the New York Times. Schlissel described how the campus will hold seminars and forums in the fall to discuss the significance of personal genetic information.

Despite Schlissel’s enthusiasm, the program is not without criticism. Jesse Reynolds, a policy analyst at the Center for Genetics and Society, acknowledged that educating incoming students on new genetic technologies can indeed constitute an important teachable experience, but raised several cautionary notes. First, Reynolds questioned whether students will freely consent to the test or whether they will feel subtle social pressure to submit a DNA sample. Second, and importantly, Reynolds asserted that by suggesting freshmen’s participation in this experiment, Berkeley is legitimizing or promoting the direct-to-consumer genetic testing industry.

As recent Berkeley alumnae Jillian Theil pointed out in her op-ed on Monday, the scientific validity of these tests when they are offered by direct-to-consumer (DTC) companies is still unknown. Earlier this month, the FDA stepped forward to assert that tests offered by companies such as 23andme and Navigenics are in fact invitro devices and fall under FDA review. But until the FDA and the companies offering DTC genetic tests work through the regulatory process, the current DTC genetic tests’ analytical and clinical validity remains uncertain.

Problematically, students will not fully learn about the complexities of federal regulation, genetic information, and how to contextually interpret it until after they receive their results during the fall discussion sessions on campus. Contrary to Schlissel’s categorization of these variants as innocuous information, bioethicist George Annas argued that a college student’s genetic variant relating to alcohol metabolism is far from harmless. “What if someone tests negative, and they don’t have the marker, so they think that means they can drink more? Like all genetic information, it’s potentially harmful,” asserted Annas in the New York Times.

Theil’s title hit the mark: proceed with caution, indeed. Students should know that similar tests offered in the marketplace are in the middle of potentially sweeping regulatory changes. Even if Berkeley’s tests are accurate, as Annas noted, students should interpret their genetic information carefully (should they choose to participate) and forgo basing any lifestyle decisions on their results.

--Katherine Drabiak-Syed

Pathway Genomics: the Final Tipping Point for FDA Regulation of DTC Genetic Tests?

On Monday, the New York Times reported that Pathway Genomics, a company selling direct-to-consumer (DTC) genetic and ancestry tests partnered with Walgreens, who was poised to begin stocking its shelves across the nation with kits. Two days later, the FDA sent a letter to Pathway Genomics asking the company to either show it has regulatory approval or explain why the test does not fall under the purview of FDA’s regulations. As a result of this controversy, Walgreens announced it will postpone selling the kit until the company resolves the issue with the FDA.


Pathway Genomics, like other DTC genetic tests, offers DNA testing to provide consumers information relating to genetic markers for risk of developing health conditions, carrier status, drug responses, and adverse medication reactions. Its website promises “with Personal DNA Testing, you can take preventative steps to improve your future, and even extend your life.” Despite these assertions, Pathway Genomics maintains its test should not fall under FDA regulation because it is “not intended for use in diagnosis, treatment or for the mitigation or cure of a disease.” This fine (or nonexistent) line of what constitutes a medical test rather than an informational service was the same argument used by Navigenics and 23andme back in 2008 when they responded to cease and desist letters sent by the California Department of Public Health.



Up until this point, the FDA has declined to regulate tests and active ingredients that a company creates itself in its own laboratory (home brew tests.) [See our previous posting on the topic here and our Direct-to-Consumer Law & Policy Update here.] Accordingly, the FDA has not regulated home brews’ claims of clinical validity, analytic validity, or clinical utility. That is, consumers had no assurance whether the test correctly correlated with the presence, absence, or increased risk of a certain disease; whether the test’s positive or negative test result correlated with the gene sequence; or whether the company provided useful information to translate these results to the consumer.


The Genomics Law Report posits that the sudden change in FDA’s response reflects the fact that Pathway Genomics will be the first company to sell its kit in a store location rather than through the internet, which increases its visibility and availability to consumers.


It also magnifies the potential that consumers may misunderstand or be misled by test results. Even if the test itself provides accurate information, the nature of DTC genetic tests presents inherent shortcomings. First, there is no requirement for a physician to determine whether the test is medically indicated prior to ordering. Second, there is no mandatory genetic counseling to explain the significance and limitations of the results.


Like several other companies, Pathway Genomics charges additional fees for a consumer to purchase telephone sessions with a genetic counselor. Unlike other companies, Pathway Genomics states it will provide a free genetic counseling session if the company deems it “medically necessary.” This gracious offer misses the point that genetic counselors should always be part of the genetic testing equation. It also leaves us to wonder, how does Pathway Genomics decide what constitutes a medically necessary reason?


It seems Pathway Genomics’ business decision to partner with the drugstore giant may have finally caught the FDA’s attention. FDA’s investigation into Pathway Genomics’ test into may turn out to be the long awaited tipping point for FDA to revise its stance and begin to regulate DTC genetic tests.

-Katherine Drabiak-Syed

Direct-to-Consumer Fetal Sex Prediction Tests: the US is Not Immune to Sex Selection

In January, Dutch researchers published a study relating to a new method for screening maternal blood to determine fetal sex as early as seven weeks after conception. Although this test reports 100% accuracy, other direct-to-consumer (DTC) fetal sex prediction tests that advertise online offer similar tests with unregulated accuracy.


Recently, these tests have come under increased scrutiny based on the possibility that consumers both in the US and abroad may purchase the tests as a means obtaining information about fetal sex as the first step in seeking a sex selection abortion. Unlike an ultrasound (performed at 18-20 weeks in the second trimester), these DTC tests advertise the ability to predict fetal sex between 5-10 weeks in the first trimester. This offers parents an opportunity to determine fetal sex and make corresponding planning decisions to produce a child of a specific sex that may have been previously unaffordable (through means such as preimplantation genetic diagnosis or sperm selection) or inaccessible (second trimester sex selection abortions).


Three main countries- China, India, and Korea- are often used as examples of countries with socio-cultural environments that contribute to male child bias in attitude and action. Literature contains extensive discussion on how and why socio-cultural attitudes have traditionally, and still to a large extent, continue to favor male children and perpetuate extensive gender discrimination within the respective countries. The magnitude of bias is reflected in the skewed population ratios such as the 50 million “missing” females that should otherwise exist in the Chinese population. These deeply entrenched reasons for male bias and the pervasiveness of these attitudes means that even despite legal steps to explicitly limit or prohibit sex selection abortions, for decades both parents and practitioners have ignored laws designed to prevent this practice in each respective country.


In recognition of this issue, some DTC fetal sex prediction companies specify that they do not sell the product to consumers in China and or India. However, some companies have not issued such restrictions, and consumers in India or China can locate these products by a simple internet search. In India, scholar and activist Dr. Sabu George filed a lawsuit against Google and Yahoo seeking to enforce an Indian law against advertising products that reveal fetal sex. While the search engines have pulled some advertisements, internet searches still provide links to the DTC fetal sex prediction company websites.


The potential of using fetal sex prediction tests as a means of sex selection is not only a problematic issue limited to other countries. Both attitudinal research and recent litigation suggests that some parents in the US may use these tests for sex selection purposes.


Despite a notion that the general US population does not possess a preference for a child of a specific sex, statistics suggest this assumption may not be correct. Numerous studies demonstrate that members of the US population do possess attitudinal bias favoring male children, either as only children or first born. Some parents not only hold this male child bias, but are also willing to translate these attitudes into practice to achieve the desired outcome.


Another lawsuit against the Baby Gender Mentor product, Duffy et al. v. Acu-Gen Biolabs et al., also confirms these attitudes exist within the US population. Plaintiffs allege the tests were inaccurate and falsely predicted their baby’s sex, which caused them emotional distress and had a “devastating effect.” One plaintiff asserts that the incorrect test results contributed to the demise of her marriage because her husband wanted a boy, while another plaintiff upon learning the results “struggled, needlessly, with whether to keep [the pregnancy.]”


Granted, vast socio-cultural differences exist between counties such as India, China, and the US that could lead to less devastating population wide outcomes. However, does this mean we should be less concerned that only a small percentage of the population may use these tests for sex selection purposes? What can we learn from these countries when formulating our policy relating to how these tests can or cannot be used?

--Katherine Drabiak-Syed

Direct-To-Consumer Baby Gender Mentor Test in a Three Year Stalemate

In 2005, news headlines excitedly shared the latest development in direct-to-consumer testing: the Baby Gender Mentor early prenatal gender detection test. Acu-Gen Biolab, Inc., a company based in Lowell, Massachusetts, claimed that as early as five weeks, pregnant women could use a simple finger-prick test to obtain a blood sample and send it to Acu-Gen who would use “established qPCR technology analysis” to determine their baby’s sex. Originally claiming their $275 test was “infallible” and 99.9% accurate with a 200% money back guarantee, many expectant women relying on Acu-Gen’s claims eagerly purchased the test.

Months later, numerous accusations surfaced relating to the accuracy of the test, Acu-Gen’s failure to honor the warranty policy, and more disturbingly, allegations that C.N. Wang, PhD, President of Acu-Gen, advised several women that the results of their gender detection test conflicted with their ultrasound results because their baby had chromosomal abnormalities or a fetal “defect.” As a result of this alleged medical advice, many women sought further testing and procedures to determine whether their baby did indeed have a chromosomal abnormality. In addition to enduring the tremendous anxiety caused by Wang’s statements, these women underwent additional procedures such as extra ultrasounds, amniocentesis, and chromosomal testing, accumulating costly and unnecessary expenses.

Why is this seemingly dated piece of news still an issue? Because it has yet to be resolved. Although thepregnancystore.com, a prior vendor of the test no longer carries the product, The Baby Gender Mentor website still sells the potentially dangerously misleading early prenatal gender detection test.

In early 2006, New Jersey law firm Gainey & McKenna filed a class action law suit, Blumer, et. al. v. Acu-Gen Biolabs, Inc., et. al. on behalf of over 100 women who purchased the Baby Gender Mentor test, claiming among other things, that Wang and Acu-Gen’s deceptive advertising, misrepresentation of the test’s accuracy, and illusory guarantee induced them to purchase an inaccurate test and caused them corresponding harm, amounting to eight counts of legal violations.

In the complaint, Blumer et. al. requested:

(1) profit disgorgement and restitution, which would recognize Acu-Gen’s unfair business practices and require them to pay Blumer and the women back, thus honoring their money back guarantee;

(2) compensatory damages, to compensate women for any other undue expenses such as the hundreds or thousands of dollars spent on additional medical testing to clarify whether their baby suffered from a chromosomal abnormality;

(3) punitive damages, to penalize the defendant’s wrongdoing and serve as a deterrent to similar companies; and

(4) injunctive relief to prevent Acu-Gen and Wang from further marketing, selling, and profiting from the test.

Acu-Gen maintains their product works, and Wang has referred to the allegations as “totally bogus.”

Although Gainey & McKenna negotiated on behalf of Blumer and arrived at a settlement agreement with Acu-Gen and Wang, according to Barry Gainey, lead counsel for the plaintiffs, both defendants reneged on their settlement agreement. The District Court of Massachusetts denied Blumer’s motion to enforce the settlement, leaving these women and all other similarly situated individuals at square one- susceptible to cutting edge and supposedly infallible technological advancements that leave them aggrieved without effective or timely recourse.

Barry Gainey confirmed that the case is still active and plaintiffs filed a motion to amend the complaint. To clarify this timetable: over three years have passed since filing serious accusations of legal violations, yet there has still not been a hearing on the case’s merits or enforceable settlement. This progression illustrates the inefficiency of the judicial system to address gaps in federal regulation and the potentially grave impact of direct-to-consumer tests.

Like many other direct-to -consumer tests available online, gender prediction tests have been treated as outside the scope of federal regulation. Despite the FDA’s mandate to regulate medical devices used in the diagnosis of disease or other conditions (such as pregnancy), the FDA has thus far declined to regulate the “home-brew” variety to direct-to-consumer tests where a laboratory such as Acu-Gen uses its own reagents and protocols. Thus, the FDA does not regulate the clinical or analytical validity of these tests. The FTC has similarly followed suit in declining to regulate the industry, despite its authority to prohibit false or misleading advertising.

Private remedy through the judicial system is ineffective in addressing the regulatory shortcomings in direct-to-consumer tests. Over three years later, and the women wronged by the Baby Gender Mentor test have yet to receive their day in court. Meanwhile, Acu-Gen continues to market, sell, and profit from a test that at best, is of uncertain validity, and more troubling, may reflect the allegations in the Blumer complaint. How many more aggrieved individuals and how many more years must the public wait until the FDA and the FTC step in?

-Katherine Drabiak-Syed

In the Literature: Predictive Health 2.0

The recent double issue of The American Journal of Bioethics (Vol 9 6&7) includes two target articles (followed by open peer commentaries) on the ethical issues of direct-to-consumer (DTC) genomics and social networking.

The issue opens with an editorial by 23&Me's Andro R. Hsu, Joanna L. Mountain, Anne Wojcicki, and Linda Avey: "A pragmatic consideration of ethical issues relating to personal genomics." The editorial offers five points of discussion that the authors find relevant to the discussion of the ethical issues. Facebook users might be surprised to discover that the service is offered as an example of innovative data sharing policies; see point five: "A single data sharing policy cannot fit the needs of all".

The first "target article" reports the result of an attitudes survey about DTC; see: McGuire AL, Diaz CM, Wang T, Hilsenbeck SG. Social networkers' attitudes toward direct-to-consumer personal genome testing. Although the title suggests that "social networkers" are a focus of the article, in reality they are a convenient (or experimental?) survey population--the authors used Zoomerang and Facebook to reach the 1,080 respondents. Of the respondents, 47% reported a pre-existing knowledge of DTC genomics companies like 23&Me, Navigencs, and deCODEme; 6% reported having used one of these services and 64% reported a willingness to use one of the services in the future.

The second "target article" focuses on where all this might be leading; see: Lee SS, Crawley L. Research 2.0: social networking and direct-to-consumer (DTC) genomics. In addition to proposing that social network analysis could be used to explore the impact of these DTC genomics ventures on research, data sharing, and subject recruitment, the authors also ask: "What are the ethical and social implications of new social formations created through the sharing of personal genomic information?" In other words, how will the convergence of Web 2.0 and personal genomic information (PGI) change our social structures?

Commentaries on these articles include a few authored by friends of the PredictER program; see, for example:

Esposito K, Goodman K. Genethics 2.0: phenotypes, genotypes, and the challenge of databases generated by personal genome testing. pp. 19-21.

Caulfield T. Direct-to-consumer genetics and health policy: a worst-case scenario? pp. 48-50.

Other articles and publications of interest:

Genetic privacy and piracy. Nat Cell Biol. 2009 May;11(5):509. PubMed PMID:19404329.
Avard D, Silverstein T, Sillon G, Joly Y. Researchers' perceptions of the ethical implications of pharmacogenomics research with children. Public Health Genomics. 2009;12(3):191-201. PMID: 19204423.

Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009 Jun 9;338:b2175. PMID: 19509425.

Borry P, Howard HC, Sénécal K, Avard D. Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors. Fam Cancer. 2009 Jun 2. PMID: 19488835.

Dokholyan RS, Muhlbaier LH, Falletta JM, Jacobs JP, Shahian D, Haan CK, Peterson ED. Regulatory and ethical considerations for linking clinical and administrative databases. Am Heart J. 2009 Jun;157(6):971-82. PMID: 19464406.

Forsberg JS, Hansson MG, Eriksson S. Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet. 2009 May 27. PMID: 19471310.

Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health. 2009 Mar;99(3):442-5. PMID: 19106425.

Henrikson NB, Bowen D, Burke W. Does genomic risk information motivate people to change their behavior? Genome Med. 2009 Apr 2;1(4):37. PMID: 19341508.

Maliapen M. Clinical genomics data use: protecting patients privacy rights. Studies in Ethics, Law, and Technology. 2009;3(1):Article 1. Available at: http://www.bepress.com/selt/vol3/iss1/art1

Manion FJ, Robbins RJ, Weems WA, Crowley RS. Security and privacy requirements for a multi-institutional cancer research data grid: an interview-based study. BMC Med Inform Decis Mak. 2009 Jun 15;9(1):31. PMID: 19527521.

Mascalzoni D, Hicks A, Pramstaller PP. Consenting in population genomics as an open communication process. Studies in Ethics, Law, and Technology. 2009;3(1):Article 2. Available at: http://www.bepress.com/selt/vol3/iss1/art2

Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009 Jun 9. PMID: 19506575.

Wilkinson RH. The single equality bill: a missed opportunity to legislate on genetic discrimination? Studies in Ethics, Law, and Technology. 2009;3(1):Article 3. Available at: http://www.bepress.com/selt/vol3/iss1/art3

IndyStar - Do you want to know? Direct-to- consumer DNA tests ...

PredictER's Kimberly Quaid and Indiana University Department of Medical and Molecular Genetics' Dr. Gail Vance comment on direct-to-consumer genetic testing in today's issue of The Indianapolis Star. Quaid notes:

"For a lot of genetic conditions, there is not much we can actually do to change them. So, what are people getting out of the tests?" … While legitimate genetic tests exist, such as one to detect the BRAC mutations for breast cancer, Quaid said, she doesn't see the sense in identifying risks for every disease. She also doubts the validity of tests used by some firms. … Traditionally, health-related genetic tests have been available only through health-care providers, who decide whether they are based on family history and symptoms, and who interpret results for patients. Quaid said that method better safeguards consumers.

The Best Predictive Health Ethics Blogs - June 2008

California and Direct-to-Consumer Genetic Testing:

California's decision to send cease-and-desist letters to thirteen direct-to-consumer genetic testing companies (including 23andME, deCODEme, Knome, and Navigenics) ignited a blogging wild-fire of mostly outraged responses. Some of the more widely read expressions of protest were blogged at Wired Science and include Thomas Goetz's much-echoed Attention, California Health Dept.: My DNA Is My Data (17 June 2008). For an alternative reaction see Steve Murphy's posts on the topic at Gene Sherpa, which include: Do you hear that sound Mr Anderson? (15 June 2008), A$$ Kicking (17 June 2008), and R'Uh-R'Oh Shaggy!!! (17 June 2008). Although many of the replies to Murphy's posts offer only more expressions of outrage, Daniel MacArthur at Genetic Future engages Murphy in a thoughtful exchange beginning with California cracks down on genetic testing companies (15 June 2008) and Cat-fight over California (18 June 2008). Finally, for a good overview of the news and blogging on the subject, see Blaine Bettinger's recent post The Genetic Mess in California - A Round-Up, and My Thoughts (30 June 2008) at The Genetic Genealogist.

Employee Wellness

Matt Mealiffe of DNA and You writes in response to the news that Japan will require companies and local governments to "measure the waistlines of Japanese people between the ages of 40 and 74 as part of their annual checkups" with the standard of "33.5 inches for men and 35.4 inches for women" (see Norimitsu Onishi, Japan, Seeking Trim Waists, Measures Millions. The New York Times. 13 June 2008). In Mealiffe's assessment (14 June 2008), mandatory waistline measurement is "bold social policy" which may be, however, genetic discrimination.

In an unrelated post on a similar topic, Jane Sarasohn-Kahn of Health Populi reports employee attitudes regarding the privacy risks of employers' wellness programs. Writing in Is worker wellness a privacy issue? (5 June 2008), Sarasohn-Kahn summarizes the findings of a recent report: "Employees are concerned that this information could be used to reduce benefits or for even more egregious purposes". An overview of the findings, "Health and Wellness: the shift from managing illness to promoting health" is available from the Center for Studying Health System Change [PDF].

Law & Policy

Andrew W. Torrance of BioLaw: Law and the Life Sciences reflects on the sometimes presumed amoral status of patent law in U.S. – a status that is not presumed in Europe. In Patently Immoral Genes (2 June 2008), Torrance shares the recent, related work of the European Society of Human Genetics ("ESHG") which "has issued recommendations that would severely limit patents on genes in the European Patent Office (EPO) and member states of the EPC." According to Torrance, "the ESHG recommends that the EPO establish an 'ethics committee' to police the patentability of controversial technological innovations". He believes that this news may be of interest to policy makers in the States, including: California Democrat, Xavier Becerra, a sponsor of the "Genomic Research and Accessibility Act" (H.R.-977 – Thomas | GovTrack.us).

Nick Agar writes at What Sorts of People on a report by The Bioethics Council of New Zealand on the completion of its program Who gets born? Pre-birth testing. The report responds to the New Zealand government's decision to fund pre-implantation genetic diagnosis for couples with a high risk of conceiving a child with a genetic disorder. In NZ bioethics council (27 June 2008), Agar notes that "the emphasis is very much on facilitating parental choice, with health professionals given the role of supplying parents with the information they need to make choices consistent with their values". He observes that the Council made a deliberate effort to solicit participation from a wide range of "interested parties", but cautions that there may be "a bit of fallacy of bureaucratic representativeness here – if a committee’s composition approximately matches the representation of various communities in the general population then its pronouncements must be representative of the viewpoints of those different communities".

Personalized Medicine

Reflecting, in part, on the prevalence of "Personalize Medicine" in the recent 2008 BIO Convention, Jennifer Miller at Bioethics International defines the topic and introduces some of the ethical and legal issues. She identifies six ethical issues in Personalized medicine: an introduction, its promises and the ethics (26 June 2008):

(1) just access to, allocation and application of the new technologies, (2) privacy concerns, (3) respecting parties’ autonomy, (4) obtaining quality informed consents, (5) intellectual property rights, particularly in connection with bio-banking, (6) overall resource allocation and prioritization questions ….

Reviews

Bonnie Green, writing for BioethicsBytes (17 June 2008), reviews "An Adventure into Ourselves", the third episode of a four-part television series entitled DNA: The Human Race (Channel 4, 2003). [BioethicsBytes hosts and reviews resources for ethics education. The project aims "to assist in the teaching of bioethics, with particular emphasis on multimedia materials (film, TV, streamed media) as case studies".] Green's thorough review of "An Adventure into Ourselves" marks interesting quotations and highlights the social and political context of the Human Genome Project (HGP). She observes that the series and the episode form "an excellent basis for teaching both the science and bioethics of the HGP and large scale sociotechnical projects". The post also includes YouTube footage from related programming about the X-Prize.

Writing for Gene Expression, "Herrick" reviews Heredity and Hope: The Case for Genetic Screening, by Ruth Schwartz Cowan (Harvard University Press: 2008. 270 pp. $27.95, £18.95). This blogger points to three aspects of Cowan's book on genetic screening. In Heredity and Hope by Ruth Schwartz Cowan (11 June 2008), "Herrick" observes that Cowan distinguishes contemporary genetic medicine from mid-20th century eugenics by 1) showing that "genetic screening is a bottom-up social phenomenon, not a top-down mandate", 2) highlighting the "pro-natalist" aspects of contemporary genetic screening, and 3) sharing happy-ending stories about the proper use of this technology. In conclusion, "Herrick" observes:

Functionally, Cowan does the same thing for genetic screening that The New Republic did for tough-on-crime policies in the 80's and 90's: Cowan does some liberal hand-wringing while telling the reader that no, you're not becoming a Brownshirt if you agree to an amnio.

Predictive Health: Best Ethics Blogs - April, 2008

This issue of the "best" predictive health ethics blogs includes entries on education, eugenics, genetic counseling, genetic testing, personal genomes and privacy.

Education

More on the need for science education. Sue Trinidad, Women's Bioethics Blog. 11 April 2008.
How will tomorrow's voters make informed decisions about the predictive health research and medicine. Sue Trinidad looks at the results of a recent evaluation (see: PMID: 18245328) of submissions to the DNA Day essay contest for high school students; the forecast is not good. After reading comments like:

Genetics create a perfect being. Change the genes. Make that child perfect. There's no better solution to an impending health care crisis. … What we can have is a sea of people who all look brilliant, who are all smart and who all have perfect eyes, nose and lips. It's a perfect society, what more could we want?

Trinidad calls for improved K-12 science education:

[T]hese are the responses of students who were willing to participate in an essay contest about genetics. What must be the level of understanding among those who wouldn't bother? Clearly, CLEARLY, we need to do a better job of K-12 science education.


Eugenics?

Genetic DisEnhancement -- Does reproductive autonomy extend to choosing a disability? Linda MacDonald Glenn, Women's Bioethics Blog. 13 April 2008.
Following the recent news from the UK that the government will remove references to deafness from the proposed Human Fertilisation and Embryology Bill, a decision that will permit couples to use preimplantation genetic diagnosis to select a child with congenital deafness, Glenn questions the broader implications of the decision:

My concern about removing the clause banning the creation of disabled children entirely, is why stop at deafness? Aren't the primary purposes of medicine to heal, to cure diseases, restore, and alleviate suffering? … So the question is how far does reproductive autonomy go? Nobody wants to see a fellow human being struggle or suffer, especially in the name of 'reproductive autonomy.'

Whose Normality? D. Joy Riley, bioethics.com. 17 April 2008.
After reading that a economically disadvantaged couple in India accepted a child with Craniofacial Duplication as potentially a reincarnated deity, Riley wonders about Western notions of "normal" in the context of prenatal genetic diagnosis. Riley is alarmed by the concept that prenatal screening for Huntington's Disease "could eliminate this entire population!" The author asks:

Who defines ‘normal’? Is normal equal to “without disease or abnormality”? If so, when? Is normal to be born without disease, or to be born with no disease or disorder present at birth, AND no genes for known disorders that will develop later in life, like breast cancer, familial polyposis of the colon, or Huntington’s Disease?


Genetic Counseling

Now this is why we need genetic counselors. SciPhu. 25 April 2008.
After writing (in an earlier post) that reliable predictive testing may render the job the genetic counselor obsolete, the author of SciPhu reads a paper by lead author Kimberly Quaid (a PredictER team member). SciPhu calls the experience "eye-opening". When it comes to "high risk tests", such as a test for Huntington's Disease, SciPhu concludes:

The final take home message must be that not testing for a condition has significant value, especially when treatment options are scarce or non-existent. … Hope is sometimes a life saver. Knowledge on the other hand, can put peoples lives in ruins.


Genetic Testing

Over-regulation. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 8 April 2008.
In this "follow-the-money" assessment of genomic medicine, Murphy points to the disproportionate influence of the business sector: "Genomic Medicine is being driven by business. Why? Because academia has failed to take the bull by the horns. Why? They are comfortable in their own realm. This is a stretch for them." In Murphy's view, while business sees potential money in testing, less emphasis is placed on genetic counseling and other genetic services. In the long run, however, this lop-sided approach may hurt the life sciences industry. Murphy cautions that the direct-to-consumer genetic testing push may be annoying all the wrong people—some of the big names on the beltway: "AMA, ACP, SACGHS, FDA, CMS, GAO, US Senate, Department of HHS, FTC, ACMG, NHGRI..." In other words, "over regulation" may be on the way.

The gap is widening on genetic testing, too. Ricki Lewis, blog.bioethics.net. 14 April 2008.
Following a post on the widening gap between public perceptions and the reality of the current state of the art in stem cell science, Ricki Lewis writes on a similar gap in the genetic testing industry. Lewis warns that whole-genome association tests may not be ready for the consumer market:

The truth is, and the direct-to-consumer company websites actually say so in the fine print ... Consumers may not be aware of these limitations, nor realize that “link,” “marker,” and “association,” have precise scientific meanings.

After reciting the disclaimers, Lewis doubts the services provided by 23andMe, Navigenics, and deCODEme are legitimately non-medical and asserts:

It isn’t ethical to market DNA tests based on whole genome population-based studies without randomized, controlled clinical trials, replication, and validation. ... Whether considering stem cells or DNA tests, that’s simply the way that good medical science is done.

The Ethics of Genetic Testing. William Martin, Free and Wandering Thought. 18 April 2008.
After reporting his less than stellar performance on a recent "biopsych test", Martin shares a few free thoughts on the ethics of genetic testing for diseases like Huntington's and Bipolar disorder. Martin worries about where our society will draw the lines for the appropriate use of genetic information. Like many, he anticipates that trouble in the insurance industry and asks:
"What happens when insurance companies find out you are XX% likely to develop a disease?"

With this in mind, Martin applauds Paul Wellstone's drafted "Mental Health and Addiction Equity Act", which, as Martin reports, might have some impact on how insurance companies will (or will not) use genetic information to determine coverage for mental health disorders.

Personal Genomes and the Bioscience Industry

The Personal Genome discussion. Sandra Porter, Discovering Biology in a Digital World. 24 April 2008.
Porter provides a summary of panel discussion at the University of Washington. At the event Bill Gates, Eric Lander, Maynard Olson, Leena Peltonen, and George Church fielded questions from the audience about the personal genomics revolution. Porter summarizes responses to some really interesting questions, including:

Should people be given information about genes that are related to diseases if there's nothing that can be done?
What are options for the personal genome to benefit third world populations?
How will personal genomics affect privacy?
Are we going to make designer babies?

Also see Deepak Singh's thoughts on the discussion at bbgm.

Personal Genomics Takes a Bashing on Physician Oversight, Financial Backing, and Privacy. Hsien-Hsien Lei, Eye on DNA. 21 April 2008.
Lei reviews the "snarky" news coverage of the consumer genomics industry published in Forbes and BusinessWeek. While Forbes reports that New York's State Department of Health has sent threatening letters to some direct-to-consumer genetic testing companies ("jail-time"!), BusinessWeek focuses on Google's role in supporting the industry. Lei concludes: "If anyone ever organizes a biosciences startup school, they need to put regulatory affairs, investment choices, and privacy concerns on the syllabus!"


Privacy

A new model for genetic privacy: you don't have any. Daniel MacArthur, Genetic Future. 20 April 2008.
After perusing a perspective piece in Nature Reviews Genetics, MacArthur notes that the authors call for a paradigm shift in the approach to research subject privacy, he comments: "Essentially, they argue that 'the reality of the new genetics and genomics urges us to abandon the traditional concept of medical confidentiality …'." In MacArthur's assessment, the authors:

[A]rgue for a strategy of "maximizing data protection while informing people about its limits". In other words, doing your best to limit disclosure of individual health data, while clearly informing participants of the fact that their privacy can't be guaranteed.

Although he sees the value to the science and acknowledges the risk to privacy, MacArthur wonders how these changes might influence the future of human subjects research:

[W]ill such a policy discourage people with a clear family history of genetic disease from participating in large-scale cohort studies (for insurance reasons), thus reducing the power of such studies to detect disease-associated variants? Will it create a generation gap in research participation, with conservative older people shunning studies while the children of the Facebook era - who engage in public disclosure of information with a willfulness that seems shocking to their elders - embrace participation?

Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?"

On April 8th, Navigenics announced it will provide genomic testing services to the general public, yet, creating additional competition among other genetic health startup companies such as deCODEme and 23andMe. These businesses are drawing attention by allowing ordinary people to see their genetic makeup and by providing services to help understand their risk for common conditions.

For an initial fee of $2500, Navigenics’ personalized medicine package includes genotyping for 18 listed medical conditions such as Alzheimer’s disease, glaucoma, colon cancer, lupus, breast cancer, prostate cancer, and Crohn’s disease. Saliva, instead of blood, is collected for the genome scan as a less invasive and less hazardous approach. Within three weeks, Navigenics promises to deliver your risk assessment report electronically and provides genetic counseling over the telephone to educate customers on their genetic predispositions and to encourage them to take preventive measures.

The personal genomics industry is growing and potential consumers have choices. For example, 23andMe lets customers see their entire genetic profile of more than 500,000 single nucleotide polymorphisms (SNPs) while Navigenics limits customers to 18 selected conditions, even though it uses a 1 million SNP chip. On the other hand, Navigenics promises the customer access to future technology for an annual fee of $250. Customers’ spit samples are frozen, stored, and re-tested as new associations with SNPs are found.

Hoping to set industry standards, Navigenics proposed 10 criteria for performance, quality, and service for personal genomic services:

1. Validity
2. Accuracy and quality
3. Clinical relevance
4. Actionability
5. Access to genetic counseling
6. Security and Privacy
7. Ownership of genetic information
8. Physician education and engagement
9. Transparency
10. Measurement

With the evolution of personalized medicine and genetic profiling, consumers have more information in their hands. New research initiatives are on the move to understand how consumers act upon this information (i.e. ignore health risks or needlessly worry about slight risks). Navigenics has plans to support future health outcome studies and has recently joined forces with the Mayo Clinic to measure the impact genetic information has on behaviors.

It will be interesting to see whether The Personalized Medicine Coalition adopts or modifies Navigenics standards. Also interesting will be the response from the medical community to risk assessment reports generated by personal genomic businesses such as Navigenics, 23andMe, and deCODEme.

What could be better than knowing your own DNA? This genomic revolution sounds almost too good to be true. Dr. Eric Topol, cardiologist at the Scripps Clinic (ironically a collaborator with Navigenics), listed his comments (December 2007) in an editorial for The Wall Street Journal. Topol presumes it is too soon to tell whether having your genome scanned can be good for your health because there are so many unidentified genes associated with disease risk. He also wonders, as do I, how personal genomics will impact the medical community. His example . . . "When a consumer arrives in his or her doctor’s office to get help in interpreting the genomic data, the doctor is likely to respond: What’s a SNP?" – Katie Carr

[Katie Carr is a graduate student in public health at Indiana University-Purdue University, Indianapolis (IUPUI). In addition to taking classes in bioethics at the IU Center for Bioethics, Katie is working with us to develop an ethical plan for pandemic influenza response.]

Predictive Health: Best Ethics Blogs - February 2008

This second, monthly installment (see January's Best Ethics Blogs) includes blogs on the ethical issues of biobanking, the risks of genetic testing and discrimination, responses to a recent New York Times article, and thoughts about Google Health and HIPAA compliance. Entries are listed below by topic and date.

Biobanks

Biobanking, part 3: returning research results to participants. Sue Trinidad, Women's Bioethics Blog. 4 February 2008.

Continuing her excellent series on biobanking, Sue Trinidad, asks readers to consider the following scenario: "Let's say that--20 years after you consented to participate in a breast cancer study--researchers working on a different project discover that you carry a genetic mutation that has been definitively linked to Serious Medical Problem X. ... Do the researchers have a professional and/or moral obligation to share this information with you?"

More on BioBanking. Sue Trinidad, Women's Bioethics Blog. 6 February 2008.

In a fourth post on biobanking, Trinidad responds to a BBC News story ("Change planned on cloning consent", 2 February 2008). The story reports that the UK government may allow the use of tissues donated for research for embryonic cloning without requiring the explicit consent of donors. Sue asks: "[J]ust what should be the scope of allowed activities under a 'blanket' or 'one-time' consent? Also, should the research imperative (and perhaps the common good) outweigh individuals' preferences in such cases?"

[Also see Trinidad's posts on the clinical utility of genetic tests (1 February 2008) and beneficiaries of prenatal genetic diagnosis (22 February 2008).]

Consumer Genetics

While The DNA Network provides a constant stream of quality blogs on the ups and downs, ins and outs of direct-to-consumer, genetic medicine, two caught my attention this month for demonstrating creativity and gumption.

Polls Closed, Myriad Tallies Up and We await Navagenics! Steve Murphy, Gene Sherpas: Personalized Medicine and You. 11 February 2008.

In an informal survey of his readers, Murphy discovers that most think 23andMe is the most likely to be sued first. In assessing the litigious environment, the Sherpa (Murphy's pithy alter-ego) comments: "If I had a law degree … I would bone up on genetics legal precedent, corporate protections and genetic discrimination. If you think a certain ex-candidate for president made a bundle suing OB/Gyns, you haven't seen the beginning of the legal fortune to be made in genomics."

DNA Videos: Genetic Testing on NBC Nightly News. Hsien-Hsien Lei, Eye on DNA. 13 February 2008.

In this post Lei embeds videos from the Robert Bazell NBC Nightly News series "The Truth About DNA". One of these features Stanford's Hank Greely, who expresses his worries about the genetic testing market place. In a follow-up blog post, Bazell laments a "frightening lack of government regulations". After wondering if Greely and Bazell are "easily scared", Lei takes the advice of a genetic counselor (Ellen Matloff) and writes a sample letter for "Johnny" to open a discussion of his genetic test results with his family members. Will his parents be surprised to discover that he blames them for everything? Maybe someone should persuade Johnny's "parents" to write a reply.

Discrimination

Q&A with MDV’s Bill Ericson: On PacBio’s origin, why Gattaca isn’t our future, and throwing out your statins. David P Hamilton, VentureBeat: Life Sciences. 15 February 2008.

In this interview with Bill Ericson of Mohr Davidow Ventures, Hamilton asks: "What about the potential downsides, such as genetic discrimination that could leave many people uninsurable, or even the possibility that society could end up stratified by genetic caste, as in the movie Gattaca?" Ericson responds, in part, "I worried a lot about those negative implications when we started investing, but American society is, I think, mature enough to deal with the information, whether by legislation or via general social norms."

Rewarding Ignorance. Doug Masson, Masson's Blog – A Citizen's Guide to Indiana. 24 February 2008.

Doug Masson was among the many bloggers (including Steve Murphy and Sue Trinidad) responding to Amy Harmon's New York Times article "Insurance Fears Lead Many to Shun DNA Tests" (24 February 2008). After describing how the insurance industry needs a degree of "ignorance" to survive, Masson observes: "as our knowledge of a person’s likely health care profile increases, paying for medical treatment becomes less about managing risk through insurance and more about determining what our obligations might be toward our fellow humans in subsidizing their ability to live and/or remain healthy".

Bipolar Blood Test? Let The Bloodbath Begin. Philip Dawdy, Furious Seasons. 28 February 2008.

Dawdy, a patient, reacts to the latest research news about the search for psychiatric biomarkers. Research at Indiana University School of Medicine has isolated blood markers to identify mood disorders. Lead author, Alexander B. Niculescu III, M.D., Ph.D. (a future guest at our weekly PredictER meeting), hailed the research as "a major step towards bringing psychiatry on par with other medical specialties that have diagnostic tools to measure disease states and the effectiveness of treatments". If, however, a test is developed, Dawdy declares, "I am going nowhere near that test because its results--unless you do the test privately--will follow me the rest of my life and be used to discriminate against me and people like me in insurance (health and life), employment, schools, housing and God knows what all".

Health IT and Medical Records

Of Slelling and Men. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 3 February 2008.

After defining "slelling" and recounting the scandals that have limited the possibility of selling health data without the explicit consent of patients, Murphy cites Emanuel EJ, Wendler D, and Grady C (2000) to summarize how "ethicists feel" about data acquisition in clinical research.

Engineering Grand Challenges – Advancing health informatics. Deepak Singh, bbgm. 19 February 2008.

In reviewing an article published on the National Academy of Engineering website, Deepak Singh notes that the technological challenges of health informatics are inseparable from some common ethical concerns. Singh's notes that "[w]hile the article refers to privacy and security, it does not address the issues of content ownership and data portability". Among the questions the Singh would like to see answered are: "Who owns someones medical data? How does it move from one system to another? What parts can a physician have access to? [And] what are the dangers of a system controlled by the user … [?]"

Google PHR roll-out: how personal will a personal health record be? David Harlow, HealthBlawg. 24 February 2008.

Although any news about Google's developing personal health records platform "Google Health" results in an avalanche of blog posts, David Harlow was among the rare bloggers to recognize and speculate about the medical research potential of these records. In reflecting on the privacy and HIPAA challenges that Google's personal health records may bring, Harlow remarks:

So let's assume the worst: Google will sell ads to the highest bidders for keywords in your PHR (kinda OK so long as there's adequate disclosure up front), will sell aggregated de-identified data for population-based health studies (ditto, but this seems more like a good thing, and is really at the heart of the value of EHRs and PHRs generally -- though the utility depends on how much data really finds its way into the PHR, and how it's organized) and worst of all, will mistakenly convert your PHR into an RSS feed that ends up on every computer in America (eek! . . . but is that worse than dropping a paper record behind a file cabinet and never finding it again?) … Every innovation comes with a set of benefits and burdens.

Politics

One gene, two genes; red genes, blue genes. Jesse Reynolds, Biopolitical Times. 14 February 2008.

Reynolds responds to an article published in New Scientist, "Two tribes: Are your genes left-wing or right-wing?" (2 February 2008). Following a critical assessment of the media coverage and a skeptical review of efforts to study the genetics of political attitudes and behavior, Reynolds identifies a potential "disturbing" social implication for such research: "accepting that genes determine political orientation could cause deepening political apathy … Heck, why bother voting when you could just have your cheek swabbed?"

Predictive Health: Best Ethics Blogs - January 2008

This is the first in a series of monthly posts in which I share some of my favorite posts on the ethical, legal and social issues of predictive health research and medicine. A public and open discussion of these issues will increase the likelihood that individuals and communities will realize the benefits of advances in genetic and personalized medicine, human genome sequencing, predictive neuroimaging, biobanking, and health IT. PredictER Blog commends the following blogs for doing their part to inform and foster dialogue.

Listed by Topic and Date:

Biobanks

Biobanking and you. Sue Trinidad, Women's Bioethics Blog. 19 January 2008.
In the one of the first of what I hope will be long series, Sue Trinidad asks good questions about informed consent and reminds us that even "anonymized" DNA samples might be identifiers. She writes: "nothing is a more precise identifier of who you are than your so-called genetic fingerprint. Is this worrisome?"

Should genetic researchers be able to share your DNA? Sue Trinidad, Women's Bioethics Blog. 23 January 2008.
In her second post on ethical issues of genetic research and biobanks, Trinidad adds additional compelling questions, including: "If you'd consented to participate in that study at your local research university, how would you feel about your (de-identified) information being used by researchers somewhere else?" and "Say the researchers did [a] breast cancer study, and in the course of that work they noticed that there seemed to be a correlation between certain genetic patterns and alcoholism or schizophrenia. Would it be ok with you for them to pursue this line of inquiry using your genetic information?"

Consumer Genomics

American Society of Human Genetics (ASHG) Statement on Direct-to-Consumer Genetic Testing. Hsien-Hsien Lei, Eye on DNA. 2 January 2008.
Getting the month off to a good start, Hsien-Hsien Lei reviews the ASHG's policy statement [PMID: 18055737 excerpt] on Direct-to-Consumer Genetic Testing. Lei makes the following observation:"With increased competition in the field of direct-to-consumer personal genomics in 2008, I predict that only companies that can fully address the [ASHG] recommendations ... will survive .... Consumers are getting up to speed on what genetic testing can offer them and won’t settle for fuzzy, incomplete information."

Also see Lei's related posts on the subject, including: "The New England Journal of Medicine Gives Direct-to-Consumer Genome Scans Thumbs Down" (Eye on DNA, 10 January 2008).

Do I need a personal trainer or a personal genetic counsellor? Myles Axton, Free Association. 11 January 2008.In the editor's blog of the journal Nature Genetics, Myles Axton reviews the NEJM editorial “Letting the Genome out of the Bottle--will we get our wish?” (Hunter DJ, Khoury MJ, Drazen JM. N Engl J Med 2008; 358 (2):105-7. PMID:18184955 excerpt) Axton appreciates the skepticism and applauds "efforts to build genetics into every stage of medical education", but adds: "The authors have some good points, but largely ignore the unpredictable motivational potential inherent in handing people their genomes and asking them to participate in finding out more about their variation and phenotypes. Sometimes, the best doctor will say “we don’t know yet, let’s find out together”.

Privacy Issues

Your personal health: The internet and privacy. Deepak Singh, businessbytesgenesmolecules (bbgm). 2 January 2008.
Singh compares the success of Web 2.0, which relies, in part on "the forfeiture of privacy" to the rise of consumer genomics. Singh writes: "the moment you leave your footprint online, you are giving away some of your privacy. The moment you sign up for a genomic service, you are giving away some of your privacy. The question we need to answer is a simple one in a way. Is the benefit we get from being online, or getting yourself genotyped, worth the loss of privacy?" Singh has obviously traded some of his privacy for the benefits of Web 2.0; will he do the same for consumer genomics?

Respecting patient privacy preferences. John D. Halamka, Life as a Healthcare CIO. 21 January 2008.
Halamka is Chief Information Officer of CareGroup Health System and Harvard Medical School, a practicing Emergency Physician, a participant in the Personal Genome Project, and (among many more things) a vegan. Halamka writes: "One of the greatest challenges for healthcare information exchanges is to ensure continuity of care for patients while also respecting patient privacy preferences." He envisions a future in which electronic consent wizard will support a truly itemized process for sharing personal medical records and health data. Patients and research participants, might provide very specific consent statements, for example: "If I'm unconscious in an emergency room, share everything including mental health, substance abuse and HIV status data. If I'm visiting a Minuteclinic do not include my mental health and substance abuse history. If I'm sharing my data for a population-based research study, do not include my HIV status."

Whole Genome Sequencing

The ethical challenges of whole-genome sequencing part 1. Daniel MacArthur, Genetic Future. 22 January 2008.
In the first of a two(?) part post reviewing "Research ethics and the challenge of whole-genome sequencing" (McGuire AL, Caulfield T, Cho MK. Nat Rev Genet 2008; 9 (2):152-6. PMID:18087293), MacArthur summarizes advances in whole-genome sequencing technologies and evaluates the authors' comments on: the return of genome data to participants, the provision of clinical follow-up, and the integration of genome data and medical records. If you've read the NRG commentary, you'll be interested in this post; if you don't have a subscription to journal, you'll value MacArthur's outline of the issues. In his forthcoming part 2, MacArthur plans to "discuss the other major ethical challenges discussed in the NRG commentary: obligations to close relatives of study participants, and future uses of samples and data." Stay tuned! -J.O.

Predicting a New Disease: Pathological Consumption of Genetic Information

The current issue of the New England Journal of Medicine (10 January 2008; PMID: 18184955) contains a cleverly titled article “Letting the Genome out of the Bottle – Will We Get Our Wish?" The article, which explores the new phenomena of commercialized personal genome analysis through genetic profile tests capable of identifying several hundred thousand variations in any one genome, has drawn the attention of several astute bloggers, including: Myles Axton of Free Association, Blaine Bettinger of The Genetic Genealogist, Hsien-Hsien Lei of Eye on DNA, and Steve Murphy of Gene Sherpas. The general conclusion of the NEJM authors is that perhaps a person may get their wish, but the clinician certainly won’t. Why is that? Because the predictive value of many of the variations identified by the tests is questioned as is the utility of the information itself, i.e. what will the patient do with the information? While both of these arguments are accurate, they need to be tempered with common sense and a degree of humility rarely found when scientists address general society.

Beginning with the first point, the predictive value of these tests is limited. Lead author Dr. David Hunter develops this point in a US News and World Report interview with Nancy Shute (Why Not to Buy a Scan of Your Genome, 9 January 2008). Hunter notes that the predictive value of many of the genes or single nucleotide polymorphisms (SNP’s) found in these genetic profiles pales in comparison to the predictive value of tried and true genetic tests for specific genes like BRCA 1 and 2. To be sure, he is correct, but interestingly the predictive value of the BRCA gene is being called into question this month as well. A large population-based case-control study published in the Journal of the American Medical Association (Begg CB, et al. Variation of Breast Cancer Risk Among BRCA1/2 Carriers. JAMA. 2008;299(2):194-201. PMID: 18182601) suggests the BRCA 1 and/or 2 gene alone may not be as predictive as once thought, and that a variety of other genes may explain the strong familial clustering of breast cancer. What this means is that the more we know about genetics, the more we recognize the limits of our knowledge. How then can adding personal genome profiles adversely affect this pool of knowledge?

Moving now to the second point: the clinical utility of general genome profiles is questionable. Certainly this is the case. Still, the authors need to keep "personal" aspects of these profiles in mind. This is not a test marketed to health professionals to guide treatment; it is a test marketed to guide lifestyle, a type of guidance which most physicians are admittedly poor at providing for their patients anyway. Further still, the lifestyle changes dictated by carriers of the BRCA gene may be very dramatic—possible removal of both breasts and ovaries; contrast these to the lifestyle changes encouraged by a personal genome scan indicating an increased risk for heart disease—increased exercise and proper diet.

In sum, Dr. Hunter and his colleagues are right to raise their concerns about these tests: the tests have limited capability, unknown utility, and are expensive. Still, the capability of any medical test can only be magnified by an increase in data. Furthermore, an unknown clinical utility does not mean that a person cannot derive some utility from knowing their own genome profiles. If this were the case, why would they purchase the test at all? Perhaps Dr. Hunter’s lament is in part that the human genome, once the bastion of modern orthodox medical science, now will be shared with alternative medicine in a very real and technical way. Making this point clear is what is necessary, not admonishing patients on how to spend their money. - Patrick Barrett