personal genomics, genetic testing, DTC

Closed adoptions – where birth and adoption records are legally sealed to obscure adoptees’ biological parentage – were once the norm in many western Anglophone countries. Grassroots resistance to closed adoption relied upon the belief that deprivation of knowledge of their true biological origins could lead to psychological trauma among adoptees. In this chapter, I reflect on my own mother’s sense of deprivation as a resullt of closed adoption, her desire for a coherent origin story and her consequent process of cobbling together disparate fragments of legally-, religiously-, scientifically-, commercially- and familiarly-authorised and -authorising heritages from among diverse analogue, digital and biotechnical resources rendered intelligible, relevant and truthful by societal and (bio)technological transformations over time. In so doing, I call attention to complicated power relations in everyday personal heritage practices that challenge the simplistic pitting of ‘heritage from below’ (Robertson 2012) against ‘Authorised Heritage Discourse’ (AHD) (Smith 2006).

Recent debate about the ethical and regulatory dimensions of developments in genetics has sidelined societal and cultural aspects, which arguably are indispensable for a nuanced understanding of the complexities of the topic. Regulatory and ethical debates benefit from taking seriously this ‘third dimension’ of culture, which often determines the configurations and limits of the space within which scientific, ethical and legal debate can take place.

To fill this gap, this volume brings together contributions exploring the mutual relationships between genetics, markets, societies and identities in genetics and genomics. It draws upon the recent transdisciplinary debate on how socio-cultural factors influence understandings of ‘genetics2.0' and shows how individual and collective identities are challenged or reinforced by cultural meanings and practices of genetics. This book will become a standard reference for everyone seeking to make sense of the controversies and shifts in the field of genetics in the second decade of the twenty-first century.

This paper discusses how online genome-wide DNA tests that are marketed direct-to-consumer (DTC) have become policy challenges in many European and North American countries – despite the small number of people who have taken such tests world-wide. It is argued that interpretive approaches are uniquely placed to help us understand the deeper challenge to the very categories underpinning the delivery of medical care that online personal genomics (PG) services seem to pose. For example, these online tests symbolise the part-reversal of the hierarchy between those traditionally been seen as ‘experts’ and ‘lay people’, and the blurring of the boundaries between the medical and the non-medical. Ultimately, the employment of an interpretive approach, which focuses on how actors use and challenge labels, classifications, and categories, shows that the controversy over DTC genome tests concerns the question of who should be allowed to make authoritative predictions about other people’s lives - a core statement about the distribution of power. It is a redistribution of power in this respect that seems to necessitate policy change in the field of PG.

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.

Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2. Examine heterogeneity among the constituent genes on the panel, and 3. Review test uptake in the cohort relative to other reports describing outcomes for expanded panel testing. Methods: Clinical and genomic data were reviewed on 630 individuals tested on a panel of 27 genes selected on the basis of high (≥ 40%) or moderate to low (≤ 40%) lifetime risk of hereditary cancer. These patients were not enriched for adherence to the National Comprehensive Cancer Network (NCCN) criteria for Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) and constitute a referral laboratory cohort.

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 public's 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.

Since the early 2000s, anybody can buy genetic tests, directly sold on the Internet. These tests provide information about susceptibilities to some diseases and/or about ancestry. Thus, this article deals with a new e-market, whose scientific basis (validity of the tests) and status (as medical devices or consumer goods) are currently controversial. On one hand, we describe the tests and the advertisement and marketing strategies used by the companies (we made an inventory of about 40); on the other hand, we discuss several aspects on the basis of interviews conducted with users: first, the entanglement of these strategies with the global context of healthism and the emphasis put on individuals’ empowerment regarding health decisions — “individualized biopolitics”. In addition, this article broaches the new kind of biosocial networks appearing in these tests’ wake: some users indeed gather on the basis of a genetic proximity, as is it put forward by their results.