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The Human Genome Project’s open-source ethos sat uneasily next to historic commitments to biomedical privacy rights. Google-backed personal genomics (PG) company 23andMe argued that citizens should possess the right to make their biological information public. State agencies disagreed, charging 23andMe with threatening privacy rights and failing to comply with important government standards that ensured the accurate transmission of information to citizens. Drawing on semi-structured interviews conducted between 2008 and 2012 with those who worked at PG companies, as well as fieldwork in Silicon Valley, the chapter argues that the ensuing debates revealed deeper contemporary struggles over how to constitute knowledge and justice in the midst of challenges to the credibility of dominant institutions. It considers what happens to liberalism’s historic commitment to the right to control—to own—one’s body when even bodily substrates enter open-source idioms. Drawing on Arendtian readings of the importance of both the private and public realm, it argues against casting one value out in favor of another, and for articulating notions of public and private that can respond to the postgenomic condition.

This chapter discusses several fundamental types and methods of visualizing personal genomics. It reviews some of the existing and relevant visualization tools and techniques that represent initial efforts in this field. Specialized visualization tools are required, after all, to be able to access and interpret the vast and rich source of information contained within a personal genome. Although visualization is critical for exploring and interpreting personal genomic information, the problem lies with the availability of tools and techniques. These are limited, and so also represent a great opportunity for professionals and hobbyists to contribute to one another towards the building and developing of novel and useful visualization tools and techniques. Of the current tools and techniques reviewed are the tabular views, ideograms, genome browsers, and nonlinear genome browsers.

This chapter talks about how in the event of understanding and discussing how personal genetic traits relate to phenotypic traits, then it is necessary to also explore and understand the consequences of certain interactions between the gene and its environment (G x E). The chapter explores several challenges — many of them unsolved — that have been encountered when exploring and understanding G x E interactions. Its application to personal genomics is still in its early phases, however, and the foremost difficulty is in measuring the dynamic environmental elements and agents — like radiation, pollutants, physical and psychological stressors — that individuals have been exposed to over and over. Measuring these elements over the course of a single day is already overly complex and difficult, and although there are academic discussions and active research programs investigating and developing high-throughput environmental exposure profiling technologies, a more personal measurement is far from being generally available.

This chapter discusses the reasons and considerations that are often taken into account whenever someone wishes to obtain their personal genetic information. It stresses the importance of being mindful of the risks and benefits, as well as current limitations and ethical issues that may be encountered along the way. The capacity to understand and acknowledge these limitations of personal genomics is crucial, especially to the proper interpretation of a personal genome. More specifically, the chapter emphasizes caution against a notion of ‘genetic determinism,’ which is a misinformed belief that genetics is the primary determinant of most human traits, including behavior and intelligence. This is because there are numerous other unstudied genetic factors, environmental factors, and combinations thereof that may have an influence on the final phenotype — or a disease, trait, or drug response. Thus, the chapter invites for full understanding of the interpretation of a personal genome, rather than a deterministic, or even fatalistic view.

This chapter talks about the primary application of personal genomics: mainly to understand and evaluate the genetic components of personal traits, including one's risk to acquire certain various diseases. Genetic association studies are one such application. These studies aim to identify and uncover the relationship between genetics and personal traits. They are particularly important for studying so-called ‘complex’ human traits, such as cardiovascular function or autoimmune disease, which don't normally show clear Mendelian patterns of inheritance. As a result, these traits in one's genome most likely involve many genes interacting with either one another, or with various environmental factors in very complex ways. These traits are often referred to in the research literature as ‘polygenic’ or ‘multifactorial’ traits. The purpose of this chapter, then, is to give an overview of the design and conduct of genetic association studies, and how the use of genetic associations in personal genomics requires careful consideration and study.

This chapter situates the CCR5 gene, specifically the Δ‎32 allele, in the contexts of four distinct yet related enterprises- race and genomics, Big Pharma, personalized medicine, and personal genomics companies. Biocapitalism has fuelled the hopes of personalized medicine (pharmacogenomics), race-based medicine, and the Americans’ fascination with their genealogies. It turns out that various institutions, the National Institutes of Health, the Food and Drug Administration, Big Pharma, personal genomics companies, and patient advocacy groups all support pharmacogenomics but for very different reasons. This chapter discusses those different, and at times mutually exclusive reasons.

This chapter defines and explores what is called pharmacogenomics. It's broad definition states that it is the study of the relationship between variation in drug effects (pharmacology) and genetic variation (genomics). Because of the nature of this study, then, pharmacogenomics is often placed at the forefront of any discussion involving personalized medicine. This is because pharmacogenomics directly connects genetics with clinical action. When doctors know and understand a person's given genetic disposition, and if whether or not that patient is more or less sensitive to a certain drug, this makes it easier for doctors to prescribe more personalized prescriptions. Furthermore, the chapter also discusses exactly how the composition of a personal genome sequence can influence drug response, mapping the step-by-step process of how these drugs are absorbed and administered throughout the body. The chapter concludes with the acknowledgement that pharmacogenomics is indeed, arguably one of the most promising and relevant facets of personal genomics.

Where is sequence likely to take biology in the near future? Sequence is not going away: next-generation sequencing machines are making more and more sequence and more and more data an increasingly taken-for-granted part of biology. The ways in which this increasingly massive amount of data managed are likely to become ever more entangled with the management of data in other domains, especially with Web-based technology. Bioinformatics will become just one of many data management problems. This will have consequences not only for biological work, but also – as the results of bioinformatics are deployed in medicine – consequences for our understanding of our bodies. These computational approaches may become so ubiquitous that a ‘bioinformatics’ – as distinct from other kinds of biology – will disappear as a meaningful term of reference.

This chapter explores the genetics of human ancestry. Personal genomics's most intriguing and introspective aspect is the fact that each individual's genome contains the genetic footprints of ancestral lineage, going all the way to the roots of humankind itself. One of the challenges, then, that ‘genetic genealogy’ faces is the fact that genomes have a tendency to accumulate random mutational ‘noise’ and experience regular shuffling due to recombination — or the combining of the genetic material from one's mother and father. The chapter further discusses human ancestry by looking at the history of human migration patterns, particularly when modern humans migrated out of southern or eastern Africa some 200,000 years ago. The chapter reviews several global genetic mapping projects, such as HapMap, that aim to measure the genetic makeup of individuals from diverse ethnic and geographic populations. It is through this global ancestry analysis that one can finally pinpoint one's average ancestry on a world map.

This final chapter brings us up to date with the current state of affairs in gene patenting. It discusses the recent US Supreme Court’s decision on the breast cancer patents held by Myriad Genetics. It also discusses the recent move by the FDA to prohibit personal genomics companies from offering their clients medical information based on their genetic sequence. Finally, it considers the role of history of science in current policy issues.

How many online contracts have you entered into this year and how many of those did you actually read? This chapter explores the impact that the designed environment of websites and electronic contracts have on the exercise of individual autonomy in the context of the example of direct-to-consumer genetic tests (DTC). DTC tests for health purposes can be viewed as an example of Personalized Medicine, but as the mode of sale usually lacks the involvement of a physician or genetic counsellor and the industry is largely unregulated, companies often rely on their contracts and privacy policies to govern relationships with consumers. This chapter seeks to shed light on the impact that offering these services online and relying on electronic contracts, which people have grown accustomed to ignoring, has on the exercise of autonomy and an individual’s ability to make an informed choice in this context.

This introductory chapter argues that the advent of personalized medicine, precision medicine, and new consumer-focused services—such as personal genomics—is changing the nature of the traditional doctor–patient relationship. If trust was the ethical value guiding the traditional doctor–patient relationship, now other considerations such as market efficiency are aggregated to the considerations of the relationship between the patient and the health-care provider. Also, if medical law traditionally focused on the regulation of the doctor–patient relationship, nowadays medical law also encompasses the regulation of institutional relationships involving health-care providers of different sorts and at various levels. Some new services also pose challenges for medical lawyers and ethicists, because they are not being offered within the traditional clinical setting and thus sit outside the traditional governance frameworks established in medical settings. The chapter then provides an overview of the general theories on the philosophical foundations of medical law.