Returning genome sequences to research participants:Policy and practice

Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been widely considered. Through direct involvement in large-scale translational genomics studies, we have identified a number of logistical challenges that would need to be overcome prior to returning individual genome sequence data, including verifying that the data belong to the requestor and providing appropriate informatics support. In addition, we identify a number of ethico-legal issues that require careful consideration, including returning data to family members, mitigating against unintended consequences, and ensuring appropriate governance. Finally, recognising that there is an opportunity cost to addressing these issues, we make some specific pragmatic suggestions for studies that are considering whether to share individual genomic datasets with individual study participants. If data are shared, research should be undertaken into the personal, familial and societal impact of receiving individual genome sequence data

DataSHIELD: resolving a conflict in contemporary bioscience—performing a pooled analysis of individual-level data without sharing the data

Background Contemporary bioscience sometimes demands vast sample sizes and there is often then no choice but to synthesize data across several studies and to undertake an appropriate pooled analysis. This same need is also faced in health-services and socio-economic research. When a pooled analysis is required, analytic efficiency and flexibility are often best served by combining the individual-level data from all sources and analysing them as a single large data set. But ethico-legal constraints, including the wording of consent forms and privacy legislation, often prohibit or discourage the sharing of individual-level data, particularly across national or other jurisdictional boundaries. This leads to a fundamental conflict in competing public goods: individual-level analysis is desirable from a scientific perspective, but is prevented by ethico-legal considerations that are entirely valid

A strong CO<sub>2</sub> sink enhanced by eutrophication in a tropical coastal embayment (Guanabara Bay, Rio de Janeiro, Brazil)

In contrast to its small surface area, the coastal zone plays a disproportionate role in the global carbon cycle. Carbon production, transformation, emission and burial rates at the land–ocean interface are significant at the global scale but still poorly known, especially in tropical regions. Surface water pCO2 and ancillary parameters were monitored during nine field campaigns between April 2013 and April 2014 in Guanabara Bay, a tropical eutrophic to hypertrophic semi-enclosed estuarine embayment surrounded by the city of Rio de Janeiro, southeast Brazil. Water pCO2 varied between 22 and 3715 ppmv in the bay, showing spatial, diurnal and seasonal trends that mirrored those of dissolved oxygen (DO) and chlorophyll a (Chl a). Marked pCO2 undersaturation was prevalent in the shallow, confined and thermally stratified waters of the upper bay, whereas pCO2 oversaturation was restricted to sites close to the small river mouths and small sewage channels, which covered only 10 % of the bay's area. Substantial daily variations in pCO2 (up to 395 ppmv between dawn and dusk) were also registered and could be integrated temporally and spatially for the establishment of net diurnal, seasonal and annual CO2 fluxes. In contrast to other estuaries worldwide, Guanabara Bay behaved as a net sink of atmospheric CO2, a property enhanced by the concomitant effects of strong radiation intensity, thermal stratification, and high availability of nutrients, which promotes phytoplankton development and net autotrophy. The calculated CO2 fluxes for Guanabara Bay ranged between −9.6 and −18.3 mol C m−2 yr−1, of the same order of magnitude as the organic carbon burial and organic carbon inputs from the watershed. The positive and high net community production (52.1 mol C m−2 yr−1) confirms the high carbon production in the bay. This autotrophic metabolism is apparently enhanced by eutrophication. Our results show that global CO2 budgetary assertions still lack information on tropical, marine-dominated estuarine systems, which are affected by thermal stratification and eutrophication and behave specifically with respect to atmospheric CO2

Risk-stratified approach to breast cancer screening in canada: Women’s knowledge of the legislative context and concerns about discrimination from genetic and other predictive health data

The success of risk-stratified approaches in improving population-based breast cancer screening programs depends in no small part on women’s buy-in. Fear of genetic discrimination (GD) could be a potential barrier to genetic testing uptake as part of risk assessment. Thus, the objective of this study was twofold. First, to evaluate Canadian women’s knowledge of the legislative context governing GD. Second, to assess their concerns about the possible use of breast cancer risk levels by insurance companies or employers. We use a cross-sectional survey of 4293 (age: 30–69) women, conducted in four Canadian provinces (Alberta, British Colombia, Ontario and Québec). Canadian women’s knowledge of the regulatory framework for GD is relatively limited, with some gaps and misconceptions noted. About a third (34.7%) of the participants had a lot of concerns about the use of their health information by employers or insurers; another third had some concerns (31.9%), while 20% had no concerns. There is a need to further educate and inform the Canadian public about GD and the legal protections that exist to prevent it. Enhanced knowledge could facilitate the implementation and uptake of risk prediction informed by genetic factors, such as the risk-stratified approach to breast cancer screening that includes risk levels

Scholarship on Gender and Sport in Sex Roles and Beyond

In this paper we critically review how research on girls or women and sport has developed over the last 35 years. We use a post-positivist lens to explore the content of the papers published in Sex Roles in the area of women, gender and sport and examine the shifts in how gender and sport have been conceptualized in these accounts. In order to initiate a broader dialogue about the scholarly analysis of gender and sport, we subsequently explore ideas inspired by feminist theorizing that have dominated/guided related research in other outlets over this time period but have received relatively little attention in papers published in Sex Roles. We conclude by briefly making suggestions for further research in this area

Realizing the promise of population biobanks: a new model for translation

The promise of science lies in expectations of its benefits to societies and is matched by expectations of the realisation of the significant public investment in that science. In this paper, we undertake a methodological analysis of the science of biobanking and a sociological analysis of translational research in relation to biobanking. Part of global and local endeavours to translate raw biomedical evidence into practice, biobanks aim to provide a platform for generating new scientific knowledge to inform development of new policies, systems and interventions to enhance the public’s health. Effectively translating scientific knowledge into routine practice, however, involves more than good science. Although biobanks undoubtedly provide a fundamental resource for both clinical and public health practice, their potentiating ontology—that their outputs are perpetually a promise of scientific knowledge generation—renders translation rather less straightforward than drug discovery and treatment implementation. Biobanking science, therefore, provides a perfect counterpoint against which to test the bounds of translational research. We argue that translational research is a contextual and cumulative process: one that is necessarily dynamic and interactive and involves multiple actors. We propose a new multidimensional model of translational research which enables us to imagine a new paradigm: one that takes us from bench to bedside to backyard and beyond, that is, attentive to the social and political context of translational science, and is cognisant of all the players in that process be they researchers, health professionals, policy makers, industry representatives, members of the public or research participants, amongst others

The PhenX Toolkit: Get the Most From Your Measures

The potential for genome-wide association studies to relate phenotypes to specific genetic variation is greatly increased when data can be combined or compared across multiple studies. To facilitate replication and validation across studies, RTI International (Research Triangle Park, North Carolina) and the National Human Genome Research Institute (Bethesda, Maryland) are collaborating on the consensus measures for Phenotypes and eXposures (PhenX) project. The goal of PhenX is to identify 15 high-priority, well-established, and broadly applicable measures for each of 21 research domains. PhenX measures are selected by working groups of domain experts using a consensus process that includes input from the scientific community. The selected measures are then made freely available to the scientific community via the PhenX Toolkit. Thus, the PhenX Toolkit provides the research community with a core set of high-quality, well-established, low-burden measures intended for use in large-scale genomic studies. PhenX measures will have the most impact when included at the experimental design stage. The PhenX Toolkit also includes links to standards and resources in an effort to facilitate data harmonization to legacy data. Broad acceptance and use of PhenX measures will promote cross-study comparisons to increase statistical power for identifying and replicating variants associated with complex diseases and with gene-gene and gene-environment interactions