Ethics as Lived Practice. Anticipatory Capacity and Ethical Decision-Making in Forensic Genetics.

Greater scrutiny and demands for innovation and increased productivity place pressures on scientists. Forensic genetics is advancing at a rapid pace but can only do so responsibly, usefully, and acceptably within ethical and legal boundaries. We argue that such boundaries require that forensic scientists embrace 'ethics as lived practice'. As a starting point, we critically discuss 'thin' ethics in forensic genetics, which lead to a myopic focus on procedures, and to seeing 'privacy' as the sole ethical concern and technology as a mere tool. To overcome 'thin' ethics in forensic genetics, we instead propose understanding ethics as an intrinsic part of the lived practice of a scientist. Therefore, we explore, within the context of three case studies of emerging forensic genetics technologies, ethical aspects of decision-making in forensic genetics research and in technology use. We discuss the creation, curation, and use of databases, and the need to engage with societal and policing contexts of forensic practice. We argue that open communication is a vital ethical aspect. Adoption of 'ethics as lived practice' supports the development of anticipatory capacity-empowering scientists to understand, and act within ethical and legal boundaries, incorporating the operational and societal impacts of their daily decisions, and making visible ethical decision making in scientific practice.

Representing vulnerable populations in genetic studies: The case of the Roma.

Moreau () has raised concerns about the use of DNA data obtained from vulnerable populations, such as the Uighurs in China. We discuss another case, situated in Europe and with a research history dating back 100 years: genetic investigations of Roma. In our article, we focus on problems surrounding representativity in these studies. We claim that many of the circa 440 publications in our sample neglect the methodological and conceptual challenges of representativity. Moreover, authors do not account for problematic misrepresentations of Roma resulting from the conceptual frameworks and sampling schemes they use. We question the representation of Roma as a "genetic isolate" and the underlying rationales, with a strong focus on sampling strategies. We discuss our results against the optimistic prognosis that the "new genetics" could help to overcome essentialist understandings of groups.

How to choose sets of ancestry informative markers: A supervised feature selection approach.

Inference of the Biogeographical Ancestry (BGA) of a person or trace relies on three ingredients: (1) a reference database of DNA samples including BGA information; (2) a statistical clustering method; (3) a set of loci which segregate dependent on geographical location, i.e. a set of so-called Ancestry Informative Markers (AIMs). We used the theory of feature selection from statistical learning in order to obtain AIMsets for BGA inference. Using simulations, we show that this learning procedure works in various cases, and outperforms ad hoc methods, based on statistics like FST or informativeness for the choice of AIMs. Applying our method to data from the 1000 genomes project (excluding Admixed Americans) we identified an AIMset of 12 SNPs, which gives a vanishing misclassification error on a continental scale, as do other published AIMsets. In fact, cross validation shows that there exists a multitude of sets with comparable performance to the optimal AIMset. On a sub-continental scale, we find a set of 55 SNPs for distinguishing the five European populations. The misclassification error is reduced by a factor of two relative to published AIMsets, but is still 30% and therefore too large in order to be useful in forensic applications.

"Geographical Distribution Patterns of Various Genes": genetic studies of human variation after 1945.

After WWII, physical anthropologists and human geneticists struggled hard to demonstrate distance from 'racial science' and 'eugenics'. This was a crucial factor in the 'revolution' of physical anthropology in the 1950s, as contemporary accounts referred to it. My paper examines the apparent turn during this period from anthropometric measurements to blood-group analysis, and from 'races' to 'small endogamous populations', or 'isolates', as the unit of study. I demonstrate that anthropometry and blood-group analysis were used simultaneously and in the same research projects until the 1960s. Isolated populations were the new target groups of human population geneticists, from large continental groups to small village populations. Colonial infrastructures provided suitable conditions for these kinds of transnational research projects. I argue that this new framework helped to translate much of the content of earlier racial studies into a less attackable approach to human variation.