The provision of genetic testing and related services in Quebec, Canada

Background: Research in the field of genomics and genetics has evolved in recent years and so has the demand of consumers who are increasingly interested in genomic prediction of diseases and various traits. The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada. Methods: An ad hoc questionnaire was designed and administered online in 2017 to healthcare workers with good knowledge or experience in the provision of BReast CAncer genes 1 and 2 (BRCA1/2), Lynch syndrome, familial hypercholesterolemia, inherited thrombophilia genetic tests, engaged in policy planning or evaluation of genetic services. A quali-quantitative analysis of the survey results was performed. Results: Thirty professionals participated in the study. The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. Barriers to genetic services are the coverage of genetic tests by the publicly funded healthcare system, the availability of qualified personnel, and the number of genetic centers. Regulatory oversight concerning the provision of genetic services appears to be insufficient. Conclusions: Integration between genetics and the overall healthcare system in Quebec is in an early phase. Current models of genetic services require good level of genetic knowledge by all medical specialists, collaboration among different healthcare personnel, and work redistribution. The proper implementation of genomics into healthcare can be achieved through education and training, proper regulatory oversight, genomic policies, and public awareness

‘I don't think I can catch it’: women, confidence and responsibility in football coach education

Whilst women’s participation in sport continues to increase, their presence remains ideologically challenging given the significance of sport for the construction of gendered identities. As a hegmonically masculine institution, leadership roles across sport remain male-dominated and the entry of women into positions of authority (such as coaching) routinely contested. But in powerful male-typed sports, like football, women’s participation remains particularly challenging. Consequently, constructions of gender inequity in coaching were explored at a regional division of the English Football Association through unstructured interviews and coaching course observation. Using critical discourse analysis we identified the consistent re/production of women as unconfident in their own skills and abilities, and the framing of women themselves as responsible for the gendered inequities in football coaching. Women were thereby strategically positioned as deservedly on the periphery of the football category,whilst the organization was positioned as progressive and liberal

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

Women training to coach a male sport : managing gendered identities and masculinist discourses

Despite increasing female participation in English football (aka soccer), the sport remains rooted in the values and discursive practices of orthodox masculinity. This is exemplified by the English Football Association (FA), which has been criticized for its ineffective responses to addressing the inclusion and progression of women as players and workers within the organization. Female membership in male-dominated organizations is not readily achieved, given the dominance of masculinist discourses and the risks of overtly challenging these. In this study, we explored the discursive management of gendered and/or footballing identities from interviews with participants in an English regional FA’s women-only football coach education program. All of the participants described the peripheral positioning of women in English football. Analysis identified evidence of both collaboration with and resistance to the dominant masculinist discourses in the accounts of their experiences in football, while also reproducing the most valued footballing identities and knowledge as male. We connect this to the complexities of negotiating and managing gendered identities for women in male-dominated organizations. All of the participants described the value and benefits of women-only coach education and the majority noted they would prefer women-only coach education in future