Whole genome and exome sequencing techniques raise hope for a new scale of diagnosis, prevention, and prediction of genetic conditions, and improved care for children. For these hopes to materialize, extensive genomic research with children will be needed. However, the use of WGS/WES in pediatric research settings raises considerable challenges for families, researchers, and policy development. In particular, the possibility that these techniques will generate genetic findings unrelated to the primary goal of sequencing has stirred intense debate about whether, which, (...) how, and when these secondary or incidental findings should be returned to parents and minors. The debate is even more pronounced when the subjects are adolescents, for whom decisions about return of SFs may have particular implications. In this paper, we consider the rise of “genomic citizenship” and the main challenges that arise for these stakeholders: adolescents' involvement in decisions relating to return of genomic SFs, the types of SFs that should be offered, privacy protections, and communication between researchers and adolescents about SFs. We argue that adolescents' involvement in genomic SF-related decisions acknowledges their status as valuable stakeholders without detracting from broader familial interests, and promotes more informed genomic citizens. (shrink)

Social media, meaning digital technologies and platforms such as blogs, wikis, forums, content aggregators, sharing sites, and social networks like Facebook and Twitter, have profoundly changed the way that information can be shared online. Now, almost anyone with a broadband internet connection or a smart phone can share ideas, data, and opinions with just about anyone else on the planet. This change has serious implications for the way in which human subjects research can be conducted and, concomitantly, for the ways (...) in which such research may be regulated. This article explores some of these issues. (shrink)

The combination of decreased genotyping costs and prolific social media use is fueling a personal genetic testing industry in which consumers purchase and interact with genetic risk information online. Consumers and their genetic risk profiles are protected in some respects by the 2008 federal Genetic Information Nondiscrimination Act (GINA), which forbids the discriminatory use of genetic information by employers and health insurers; however, practical and technical limitations undermine its enforceability, given the everyday practices of online social networking and its impact (...) on the workplace. In the Web 2.0 era, employers in most states can legally search about job candidates and employees online, probing social networking sites for personal information that might bear on hiring and employment decisions. We examine GINA's protections for online sharing of genetic information as well as its limitations, and propose policy recommendations to address current gaps that leave employees? genetic information vulnerable in a Web-based world. (shrink)

This article explores human genetic diversity research east of what was the iron curtain. It follows the technique of “genogeographic mapping” back to its early Soviet origins and up to the post-Soviet era. Bringing together the history of genogeographic mapping and genealogies of “nationality” and “race” in the USSR, I discuss how populations and belonging were enacted in late Soviet biological anthropology and human genetics. While genogeography had originally been developed within the early Soviet livestock economy, anthropologists, public health scientists, (...) and medical geneticists reanimated the technique in the late 1960s after the end of the Lysenko era and its ban on classical genetics. In the 1970s, population geneticists pursued a project to compile all genetic data on the USSR population, resulting in a “genogeographic atlas,” consisting of series of tables as well as maps projecting genetic markers onto geographic grids. Following the post-Soviet trajectories of these maps, I examine the ways in which human genetic diversity studies realign with renegotiations of difference in today’s Russian Federation. The exploration of the Soviet case of human genetic diversity research contributes to our understanding of the varied ways in which racializing discourses were entangled in the project of modernization. (shrink)

Background: As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously (...) for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.DiscussionThis paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'SummaryConsideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility. (shrink)

In discussions about direct-to-consumer availability of genetic testing, much attention has been given to identifying the various risks and benefits that individuals might incur. For example, upon...

The different and seemingly unrelated practices of Information and Communication Technologies used to collect and share personal and scientific data within networked communities, and the organized storage of human genetic samples and information—namely biobanking—have merged with another recent epistemic and social phenomenon, namely scientists and citizens collaborating as “peers” in creating knowledge. These different dimensions can be found in joint initiatives where scientists-and-citizens use genetic information and ICT as powerful ways to gain more control over their health and the environment. (...) While this kind of initiative usually takes place only after rights have been infringed —as the two cases presented in the paper show—collaborative scientists-and-citizens’ knowledge should be institutionally allowed to complement and corroborate official knowledge-supporting policies. (shrink)