Barbara Prainsack

A Survey of UK Public Interest in Internet-Based Personal Genome Testing

Background In view of the increasing availability of commercial internet-based Personal Genome Testing (PGT), this study aimed to explore the reasons why people would consider taking such a test and how they would use the genetic risk information provided. Methodology/Principal Findings A self-completion questionnaire assessing public awareness and interest in PGT and motivational reasons for undergoing PGT was completed by 4,050 unselected adult volunteers from the UK-based TwinsUK register, aged 17 to 91 (response rate 62%). Only 13% of respondents were aware of the existence of PGT. After reading a brief summary about PGT, one in twenty participants (5%) were potentially interested at current prices (£250), however this proportion rose to half (50%) if the test was free of charge. Nearly all respondents who were interested in free PGT reported they would take the test to encourage them to adopt a healthier lifestyle if found to be at high genetic risk of a disease (93%). Around 4 in 5 respondents would have the test to convey genetic risk information to their children and a similar proportion felt that having a PGT would enable their doctor to monitor their health more closely. A TwinsUK research focus group also indicated that consumers would consult their GP to help interpret results of PGT. Conclusions/Significance This hypothetical study suggests that increasing publicity and decreasing costs of PGT may lead to increased uptake, driven in part by the general publics desire to monitor and improve their health. Although the future extent of the clinical utility of PGT is currently unknown, it is crucial that consumers are well informed about the current limitations of PGT. Our results suggest that health professionals will inevitably be required to respond to individuals who have undergone PGT. This has implications for health service providers regarding both cost and time.

Personal genomes: Misdirected precaution

Personal-genome tests are blurring the boundary between experts and lay people. Barbara Prainsack, Jenny Reardon and a team of international collaborators urge regulators to rethink outdated models of regulation.

Negotiating Life: The Regulation of Human Cloning and Embryonic Stem Cell Research in Israel

Israel endorses one of the worlds most liberal regulations of embryonic stem cell (ESC) research and human cloning. After an introduction to the technologies and their regulation in many Western countries and on an international level, I discuss ethical and moral concerns formulated in Western countries, many of which have no room in the bioethical discourse in Israel. The traditional argument is to explain this with religion: particularly, by arguing that Jewish religious teachings lead to a conception of ESC research and cloning as morally unproblematic. Nevertheless, in order to fully understand the Israeli situation, I argue that we have to take into consideration prevalent political narratives. The ‘demographic threat’ that the Jewish majority population in Israel will be outnumbered by non-Jews in the not too distant future provides a context of risk to the discourse on ‘Israeli cells’. Contexts of risk extend the scope of self-governing of individuals by predetermining ways of preventing particular risks. Instead of there being a consistent governmental policy on how to regulate medical technologies, the Israeli bioethics discourse shaped the regulations on ESC research and human cloning by providing decision-makers with particular understandings of what is ‘thinkable and sayable’. A discussion of the deliberation of the Prohibition of Genetic Intervention Law of 1999, which was extended in March 2004 for another 5-year period, will illustrate this claim.

A solidarity-based approach to the governance of research biobanks.

New opportunities for large-scale data linkage and data-mining have rendered biobanks one of the core resources of medical research in the twenty-first century. At the same time, research biobanking has been seen to pose particular ethical and legal challenges pertaining to, for example, data protection, and the minimisation of other risks for participants. These measures have in turn led to heavy administrative, logistical, and financial costs and attracted criticism for unduly impeding disease research. Based on a newly formulated approach to solidarity, we propose an approach to governance that recognises peoples willingness to participate in a public research biobank, and poses stronger emphasis on harm mitigation. We argue that such a model avoids some of the pitfalls of previous approaches. It also allows moving beyond overly restrictive and burdensome, exclusively autonomy-based governance towards governance that is reflective of peoples willingness to accept costs to assist others.

Experiences of Early Users of Direct-to-Consumer Genomics in Switzerland: An Exploratory Study

Aims: This study explores attitudes, motivations and self-reported impact in connection with direct-to-consumer (DTC) genomic testing amongst a group of life scientists in Switzerland. Methods: Data were collected through: (1) a self-completion online questionnaire, and (2) semi-structured qualitative interviews. Forty participants completed the questionnaire and 10 were interviewed. Results: Curiosity was mentioned as the primary reason for undergoing testing, while less significance was attributed to receiving actionable health information. The opportunity to contribute to research ranked high as a motive for testing. Overall, participants assessed their experience with the test as positive and were willing to recommend it to others. Some reported that the testing had an impact on how they view their health, but only a third of participants planned on showing the results to health practitioners. Participants consistently referred to ‘fun’ when describing several aspects of the testing experience. The ‘fun factor’ manifested itself in different phases of the process, including the motivation for taking the test, receiving the information and putting the test results to use (including sharing and discussing it with others). This finding suggests the need to further explore the concept of personal utility in DTC genomics. Conclusions: Although this group is not representative of the broader population due to both their scientific expertise and their willingness to try out a controversial new technology, their experiences provide valuable insights into the role of personal curiosity and altruism (fostering medical research) as motivations for testing and the utility attributed to both.

The powers of participatory medicine.

Does participatory medicine always empower patients, or could it also serve as a tool to shift responsibilities from other actors to individual patients?

The Rise of Genetic Couplehood? A Comparative View of Premarital Genetic Testing

Dor Yeshorim, a genetic testing programme focusing on the ‘genetic compatibility’ of prospective couples in Orthodox Jewish communities in Europe, the US and Israel, is at the centre of our paper. We discuss the specific understandings of risks that enable the effective implementation of the Dor Yeshorim model in Orthodox populations. Furthermore, we compare Dor Yeshorim to the premarital genetic testing programme for thalassaemia in Cyprus and analyse the particular social practices which generate different notions of genetic identity in these two projects. In the Cypriot programme, where individual carrier status is disclosed, unfavourable genetic carrier status is conceptualized on the individual level and often solved by resorting to prenatal genetic diagnosis upon pregnancy. In the case of Dor Yeshorim, where no information on carrier status but only on the ‘genetic compatibility’ of both partners is revealed, a notion of ‘genetic couplehood’ arises which conceptualizes ‘genetic risk’ not individually but as a matter of genetic jointness. If a prospective couple is found out to be ‘genetically incompatible’, marriage plans usually are cancelled. Furthermore, by not disclosing individual carrier information, Dor Yeshorim successfully avoids a pressing issue which ‘secular’ genetic testing programmes struggle with: the peril of ‘knowing too much’.

Voting with their mice: personal genome testing and the "participatory turn" in disease research.

While the availability of genome tests on the internet has given rise to heated debates about the likely impact on personal genome information on test-takers, on insurance, and on healthcare systems, in this article I argue that a more tangible effect of personal genomics is that it has started to change how participation in disease research is conceived and enacted. I examine three models of research participation that personal genomics customers are encouraged to engage in. I conclude with an evaluation of the pitfalls and benefits of “crowdsourcing” genetic disease research in the context of personal genomics.

Raw Personal Data: Providing Access

Donors should have access to raw data derived from their contributions to research or clinical repositories to increase personal choice and reciprocity. Heated debates on responsibilities in biomedical research currently focus on the end of the data and information pipeline: They revolve around issues of returning results to participants and patients (1–3, 4). Although these debates are timely, they miss a crucial point at the beginning of the pipeline: the question of whether sample donors are able to access the raw data derived directly from their stored sample. The U.S. Presidential Commission recently reviewed 32 reports from the United States and worldwide on returning of findings in diverse contexts (4); it is striking that access to raw data by participants was not addressed in any of them.

Stem Cell Stories 1998- 2008

For stem cells, the future is now. Future-oriented expectations are an organizing principle of stem cell innovation. As many commentators agree, stem cells are inextricably linked with stories of hope and promise, as well as of risk and disappointment. In the stem cell field, stories of breakthroughs are widely recognized—commercially, politically, and in the media. Having a good story to tell is crucial to fundraising for research, be it public or private, and for making the field ‘acceptable to the public’. At the same time ‘over-hyping’ the new therapeutic promises of this rapidly expanding sector of bio-innovation is assessed as a major risk (Braude et al., 2005). ‘Hope not hype?’ is the interrogative slogan of the Medical Research Council (MRC), the UK’s principal public funding body for stem cell science. And to make sure that investors also get the message right, an industrial network meeting on commercialization of stem cell therapies was recently held under the banner ‘The hype has gone!’ Hope, hype and promise are structuring scientific innovation; these stories are also organizing the responses of its many public audiences. Closely related to these themes is the narrative character of scientific discovery. As analyzed in an earlier special issue of Science as Culture, entitled ‘Procreation Stories’, narrative structures animate the unfolding of events by aligning the future and the past with value-laden expectations (Franklin & McNeil, 1993). Especially prominent is the belief in scientific progress, with its accompanying moral economy of health enhancement, manifest destiny and new frontiers to be conquered. Likewise, a recent special issue Science as Culture Vol. 17, No. 1, 1–11, March 2008