Michelle L. McGowan

Big data, open science and the brain: lessons learned from genomics

The BRAIN Initiative aims to break new ground in the scale and speed of data collection in neuroscience, requiring tools to handle data in the magnitude of yottabytes (1024). The scale, investment and organization of it are being compared to the Human Genome Project (HGP), which has exemplified “big science” for biology. In line with the trend towards Big Data in genomic research, the promise of the BRAIN Initiative, as well as the European Human Brain Project, rests on the possibility to amass vast quantities of data to model the complex interactions between the brain and behavior and inform the diagnosis and prevention of neurological disorders and psychiatric disease. Advocates of this “data driven” paradigm in neuroscience argue that harnessing the large quantities of data generated across laboratories worldwide has numerous methodological, ethical and economic advantages, but it requires the neuroscience community to adopt a culture of data sharing and open access to benefit from them. In this article, we examine the rationale for data sharing among advocates and briefly exemplify these in terms of new “open neuroscience” projects. Then, drawing on the frequently invoked model of data sharing in genomics, we go on to demonstrate the complexities of data sharing, shedding light on the sociological and ethical challenges within the realms of institutions, researchers and participants, namely dilemmas around public/private interests in data, (lack of) motivation to share in the academic community, and potential loss of participant anonymity. Our paper serves to highlight some foreseeable tensions around data sharing relevant to the emergent “open neuroscience” movement.

Serving epigenetics before its time

Society prizes the rapid translation of basic biological science into ways to prevent human illness. However, the premature rush to take murine epigenetic findings in these directions makes impossible demands on prospective parents and triggers serious social and ethical questions.

Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing

Background Many commentators on “direct-to-consumer” genetic risk information have raised concerns that giving results to individuals with insufficient knowledge and training in genomics may harm consumers, the health care system, and society. In response, several commercial laboratories offering genomic risk profiling have shifted to more traditional “direct-to-provider” (DTP) marketing strategies, repositioning clinicians as the intended recipients of advertising of laboratory services and as gatekeepers to personal genomic information. Increasing popularity of next generation sequencing puts a premium on ensuring that those who are charged with interpreting, translating, communicating and managing commercial genomic risk information are appropriately equipped for the job. To shed light on their gatekeeping role, we conducted a study to assess how and why early clinical users of genomic risk assessment incorporate these tools in their clinical practices and how they interpret genomic information for their patients. Methods and Findings We conducted qualitative in-depth interviews with 18 clinicians providing genomic risk assessment services to their patients in partnership with DNA Direct and Navigenics. Our findings suggest that clinicians learned most of what they knew about genomics directly from the commercial laboratories. Clinicians rely on the expertise of the commercial laboratories without the ability to critically evaluate the knowledge or assess risks. Conclusions DTP service delivery model cannot guarantee that providers will have adequate expertise or sound clinical judgment. Even if clinicians want greater genomic knowledge, the current market structure is unlikely to build the independent substantive expertise of clinicians, but rather promote its continued outsourcing. Because commercial laboratories have the most “skin in the game” financially, genetics professionals and policymakers should scrutinize the scientific validity and clinical soundness of the process by which these laboratories interpret their findings to assess whether self-interested commercial sources are the most appropriate entities for gate-keeping genomic interpretation.

Justice in the Context of Family Balancing

Bioethics and feminist scholarship has explored various justice implications of nonmedical sex selection and family balancing. However, prospective users’ viewpoints have been absent from the debate over the socially acceptable bounds of nonmedical sex selection. This qualitative study provides a set of empirically grounded perspectives on the moral values that underpin prospective users’ conceptualizations of justice in the context of a family balancing program in the United States. The results indicate that couples pursuing family balancing understand justice primarily in individualist and familial terms rather than in terms of social justice for women and girls or for children resulting from sex selection. Study participants indicated that an individual’s desire for gender balance in their family is ethically complex and may not be inherently sexist, immoral, or socially consequential, particularly given the social context in which they live. Our findings suggest that the social conditions that contribute to prospective users’ desires for gender balance in their families may direct them away from recognizing or engaging broader social justice concerns relating to sexism and stratified reproduction.

Using lessons learned from BRCA testing and marketing: What lies ahead for whole genome scanning services

In Matloff and Caplan’s assessment of direct-to-consumer (DTC) marketing of BRCA testing the authors posit that Myriad Genetics has set “a precedent for other private companies developing genetic tests that will be considering if, and how, to engage in DTC” (1). Since the introduction of the BRCA genetic test a new set of DTC personalized genome services have entered the marketplace and are available for purchase on the Internet. Companies marketing these services include 23andMe, deCODEme, and Navigenics, which offer whole genome scans for

Patient education and informed consent for preimplantation genetic diagnosis: Health literacy for genetics and assisted reproductive technology

985 to

Precisely Where Are We Going? Charting the New Terrain of Precision Prevention

2,500 and Knome, which offers full genome sequencing for

Egg donation compensation: ethical and legal challenges

350,000. These services offer consumers the possibility of learning their individual genetic risk factors for a range of diseases although each company puts different emphases on using genome scans for making diagnostic recommendations for health and lifestyle behaviors, genetic ancestry tracing, tracing heritability patterns, and social networking. Using Matloff and Caplan’s lessons learned from the DTC marketing and clinical application of BRCA testing as a launching point, here we look ahead to the potential impact of marketing whole genome scanning services, considering implications for both consumer-patients and their health care providers. This commentary compares and contrasts the ethical challenges posed by services which offer to scan an individual’s whole genome with those posed by BRCA testing and marketing. The individualization of healthcare and understanding health in terms of genetic risks can be situated within broader political trends towards neoliberal approaches to various sectors of the political economy, promoting individual responsibility for one’s health, including vigilant self-surveillance to manage genetic health risks (Lemke 2004; Novas and Rose 2000). In the case of genetic testing for breast cancer, Press, Fishman and Koenig (2000) have argued that the significance of this medical intervention has been co-constituted by a strongly-held cultural fear of reproductive cancers and the contemporary dominance of the risk model of medicine in the United States. Together these two political rationalities have generated a market for genetic risk assessment for breast cancer which may not have a mirror in the market for genome scanning. Mobilizing an image of an “at-risk” community comprised of “informed, empowered, autonomous women” (Matloff and Caplan this issue, 7), Myriad has certainly drawn on a risk-based approach to individualized health. Advertising of DTC genome scans also portrays its client base as informed, empowered and autonomous, but the fear tactics that Matloff and Caplan reported in BRCA marketing may not have the same kind of cultural salience in the genome scanning market. While the BRCA test is considered to have clinical utility, at this point whole genome scans are not yet considered to be clinically useful (Hunter, Khoury and Drazen 2008). This may explain why DTC marketing materials for whole genome scans are currently presented more as an informational product than as a personalized medical service. Accordingly, the marketing of genome scans draws less on a fear-based mechanism and more on neoliberal governing rationalities appealing to an as-of-yet nebulous community of consumers. These rhetorical tools include invoking knowledge as power (“With this knowledge comes power” (Navigenics 2008)), a libertarian rights based approach to access to information about oneself (“We believe that your genetic information should be controlled by you” (23andMe 2008), and individual responsibility for health management to catalyze potential consumer-patients (“Your Genes. Your Health. Your Choices.” (DNA Direct 2008)). As the consumer base for these services is undefined at the moment, it will be important to interrogate how Foucauldian “technologies of the self” like whole genome scans produce subjects with a “need” for control over and responsibility for their own genomic information and how they conceptualize the “power” that genome scans are purported to provide for them. To date very little is known about who has and who will take up whole genome scanning services, and as Matloff and Caplan’s assessment of BRCA testing implies, the ways in which DTC marketing is presented to targeted groups has an impact on who uses these tests. As the availability of these tests increases, we can no longer rely upon anecdotal evidence regarding how consumers are responding to DTC marketing. Thus, it is imperative to track not only the ways in which genome scanning is marketed to consumers, but also to whom and who among those target groups actually responds. In addition to DTC advertising, Myriad Genetics has also implemented an ad campaign directed towards healthcare professionals in a position to order the BRCA test for their patients, otherwise known as direct-to-provider (DTP) marketing. Matloff and Caplan argue that the danger of Myriad marketing their service DTP is that the entrepreneurial company is a biased source of information for physician education about the benefits of the test, and thus should not be trusted to prepare providers to offer the BRCA test. The authors’ concerns regarding DTP marketing of genetic testing services may not carry over to DTC marketing for genome scanning services because while both services are advertised directly to consumers in public media outlets, potential consumer-patients of the BRCA test are obligated to request the test from their healthcare providers. In contrast, genome scans are truly available direct-to-consumer as they can be ordered straight from the Internet by individuals interested in purchasing the service. Thus, the traditional trajectory of genetic testing from basic research to clinical trials to clinical dissemination may be disrupted by the uptake of genetic research findings by industry to market directly to consumers (Offitt 2008). In this context, in which whole genome scanning is emergent, what relevance will physicians have if they no longer serve as gatekeepers to accessing genomic information? The key, we believe, is in the continuing salience of the doctor-patient relationship particularly in interpreting complex medico-scientific information, diagnostics and in developing individual health plans. Along these lines, Matloff and Caplan raised the ethical concern that primary-care providers are not prepared to address the complexities of genetics that are required to educate patients about whether BRCA testing is right for them and to interpret test results. This concern may only be exacerbated by the introduction of genome scanning services into the market. If physicians are not equipped to provide adequate genetic counseling regarding a single genetic marker, then how can they be expected to interpret whole genome scans which have been developed and marketed outside of the medical-industrial complex? This issue has the potential to frustrate and confuse consumer-patients should they desire medical interpretation of their genome scan results. Additionally, it may further strain an already overburdened medical system should providers feel obliged to run further tests based on the results of DTC genome scans. To conclude, Matloff and Caplan’s claim that Myriad Genetics is setting the bar for how other DTC genetic services will be marketed to the public is informative and provides some cautionary tales to heed, although the ethical challenges posed by the marketing of a medical genetic test like the BRCA genetic test cannot necessarily be generalized to the whole field of DTC genetic and genomic services. There are similarities between the rhetorical tools used in DTC marketing of the BRCA genetic test and whole genome scanning, particularly in trying to mobilize individuals to take responsibility for their health and that genetic knowledge empowers consumer-patients. They are similar in that both types of services are marketed to the population as a whole, but these services do not have clinical utility for most of the population, thus there is a concern that enticing the population to make use of these services is simply a ploy for companies to make money from services without a known medical benefit for most people. This is particularly worrisome as healthcare providers are solicited by patients to provide genetic testing and interpret results of tests and scans, as both types of services have the potential to raise healthcare costs overall. A major difference between these services though is that healthcare providers serve as intermediaries in the BRCA testing market while consumer-patients have direct access to whole genome scans via the Internet which raises the potential for access to personalized genetic information without adequate counseling and interpretation of results. Even if DTC marketing of whole genome scans is not drawing on fear tactics to attract consumers as advertising of BRCA testing has, the novelty value of obtaining genetic information via the Internet needs to be situated within the social-historical context in which genetic information is largely used for medical purposes and as such consumers may interpret it as informative for healthcare decision-making. Lastly, the distinction between an intended “at-risk” community of potential BRCA test consumers and consumers of whole genome scans must be underscored. The need for empirical data assessing the uptake of both BRCA testing and whole genome scans is paramount. In the coming years it will be important to track the reception of DTC genome scanning services by consumer-patients and healthcare providers to see if in fact the challenges presented by BRCA testing and marketing and ethical concerns raised by personalized medicine bear out in the emerging field of whole genome scans and sequences.

Are Social Networkers and Genome Testers One in the Same? The Limitations of Public Opinion Research for Guiding Clinical Practice

Purpose: Innovative applications of genetic testing have emerged within the field of assisted reproductive technology through preimplantation genetic diagnosis. As in all forms of genetic testing, adequate genetic counseling and informed consent are critical. Despite the growing recognition of the role of informed consent in genetic testing, there is little data available about how this process occurs in the setting of preimplantation genetic diagnosis.Methods: A cross-sectional study of in vitro fertilization clinics offering preimplantation genetic diagnosis in the United States was conducted to assess patient education and informed consent practices. Descriptive data were collected with a self-administered survey instrument.Results: More than half of the clinics offering preimplantation genetic diagnosis required genetic counseling before preimplantation genetic diagnosis (56%). Genetic counseling was typically performed by certified genetic counselors (84%). Less than half (37%) of the clinics required a separate informed consent process for genetic testing of embryonic cells. At a majority of those clinics requiring a separate informed consent for genetic testing (54%), informed consent for preimplantation genetic diagnosis and genetic testing took place as a single event before beginning in vitro fertilization procedures.Conclusions: The results suggest that patient education and informed consent practices for preimplantation genetic diagnosis have yet to be standardized. These findings warrant the establishment of professional guidelines for patient education and informed consent specific to embryonic genetic testing.

Participatory Genomic Research: Ethical Issues from the Bottom Up to the Top Down

In addition to genetic data, precision medicine research gathers information about three factors that modulate gene expression: lifestyles, environments, and communities. The relevant research tools-epidemiology, environmental assessment, and socioeconomic analysis-are those of public health sciences rather than molecular biology. Because these methods are designed to support inferences and interventions addressing population health, the aspirations of this research are expanding from individualized treatment toward precision prevention in public health. The purpose of this review is to explore the emerging goals and challenges of such a shift to help ensure that the genomics community and public policy makers understand the ethical issues at stake in embracing and pursuing precision prevention. Two emerging goals bear special attention in this regard: (a) public health risk reduction strategies, such as screening, and (b) the application of genomic variation studies to understand and reduce health disparities among population groups.