Clinical genetics and its adjacent regimes

Clinical genetics is the prime application of genetics in healthcare, providing highly advanced and reliable diagnostics for patients with (mostly rare) disease of genetic origin. Whereas many novel technologies have expanded the genetic toolkit, integration or alignment with other areas of healthcare is often challenging. We hypothesise that this is due to the characteristics inherent to the regimes in which the genetic technologies were to be implemented. In order to facilitate integration of genetic applications in a rebooting and perhaps transforming healthcare system, we here provide insights in discrepancies between clinical genetics and four of its adjacent regimes; public health, human genetic research, non-genetic healthcare, and society. We conducted twelve semi-structured group interviews and a focus group to collect information on overlapping and distinctive elements of each regime. We identified three aspects in which the adjacent regimes differed considerably compared to clinical genetics; perception of data, expectations from technologies, and compartimentalisation units. Strikingly, divergence within each of these aspects was determined by elements of culture, and not – as is often thought – by elements of structure, e.g. regulation and policy. We conclude that implementation of genetics requires transdisciplinary empathy – understanding of the way of organizing, thinking and doing in adjacent regimes.

From Human Cytogenetics to Human Chromosomics

Background: The concept of “chromosomics” was introduced by Prof. Uwe Claussen in 2005. Herein, the growing insights into human chromosome structure finally lead to a “chromosomic view” of the three-dimensional constitution and plasticity of genes in interphase nuclei are discussed. This review is dedicated to the memory of Prof. Uwe Claussen (30 April 1945–20 July 2008). Recent findings: Chromosomics is the study of chromosomes, their three-dimensional positioning in the interphase nucleus, the consequences from plasticity of chromosomal subregions and gene interactions, the influence of chromatin-modification-mediated events on cells, and even individuals, evolution, and disease. Progress achieved in recent years is summarized, including the detection of chromosome-chromosome-interactions which, if damaged, lead to malfunction and disease. However, chromosomics in the Human Genetics field is not progressing presently, as research interest has shifted from single cell to high throughput, genomic approaches. Conclusion: Chromosomics and its impact were predicted correctly in 2005 by Prof. Claussen. Although some progress was achieved, present reconsiderations of the role of the chromosome and the single cell in Human Genetic research are urgently necessary.

Regulating human genetic research in Latin America: a race to the top or a race together?

Equilibrar la potencialidad terapéutica de la genética con la adopción de políticas que reflejen los valores sociales, ha demostrado ser una tarea formidable para los países latinoamericanos. Este ensayo presenta algunas reflexiones sobre la política de investigación genética humana en América Latina y explora un camino para el desarrollo de estas políticas.

The Biobank as Political Artifact

This article discusses the institutional practices of classifying and creating taxonomies of difference within biobanks (repositories that store a broad range of biological materials, including DNA) and the technical and sociopolitical priorities that ultimately create biobanks. I argue that biobanks operate as political artifacts and that the social circumstances surrounding the development and use of biobanks determine what counts as meaningful difference within human genetic research. The massive collection of human DNA, blood, and tissues is critical to genomic medicine and the development and governance of biobanks structure knowledge that will ultimately bear on how population differences are interpreted and health disparities are framed. Careful consideration of how to avoid the conflation of concepts of race, ethnicity, and nationality with biological differences is necessary to identify effective interventions that will bear positively on health.