From lab to lifestyle: translating genomics into healthcare practices

Abstract

Contemporary genomic sciences are uncovering genetic factors implicated in common complex diseases such as type 2 diabetes. It is suggested that such knowledge could be developed into tests for susceptibility to the disease that would allow preventive action through lifestyle modification. This paper presents research on responses to this suggestion by genetic specialists, diabetologists, and general practitioners -three groups of health professionals whose practices are likely to be affected by such testing services. It shows how the responses of the different groups are related to the professional culture of practice. I suggest that the perspective a profession has of its potential role in relation to the emerging technology can illuminate the early stages of co-constitution by which the technology that is used and the community of practice that use it are mutually reshaped.

Healthcare professionals’ perceptions of risk in the context of genetic testing for the prediction of chronic disease: a qualitative metasynthesis

“…And I don't think we're in that position right now. [Family physician, Canada;Carroll et al 2003, 49] The lack of perceived added value of genetic information to medical practice was described in relation to the current practice of the HCPs (Will, Armstrong, and Marteau 2010;Harvey 2011). There is, perhaps, an underlying assumption that current service provision should be viewed as appropriate and sufficient.…”

“…You know, it would just be another issue. [General practitioner, UK; Harvey 2011, 319] Furthermore, some HCPs emphasised that the provision of genetic risk information was not always accompanied by effective additional intervention or treatment and so had limited clinical utility (Cox and Starzomski 2004;Stermer et al 2004;Harvey 2011;Paneque et al 2014). We do know that there are some families in which there is definitely a genetic component.…”

“…The fact that genetic risk information impacts on the family, and not just the individual patient was mentioned across studies (Lobb et al 2001;Carroll et al 2003;Graves et al 2011;Harvey 2011;Walsh et al 2012;Mendes, Sousa, and Paneque 2013;Paneque et al 2014;Tan and Fitzgerald 2014).…”

“…Utility and validity (T3; Q1-10) Many HCPs felt that genetic test results did not give useful information about disease risk over and above information already available to them from family history and/or environmental risk factors (Birmingham et al 2003;Cox and Starzomski 2004;Martin, Currie, and Finn 2009;Harvey 2011;Will, Armstrong, and Marteau 2010;Graves et al 2011;Yamanaka and Takeda 2011;Tan and Fitzgerald 2014).…”

Translating genetics beyond bench and bedside: A comparative perspective on health care infrastructures for ‘familial’ breast cancer

“…It thereby seeks to answer a question that has received relatively little attention in discussions on how the translation of genomic knowledge can contribute to the improvement of population health. While various social scientists have pointed to the changes that affect research communities, clinical practitioners and the relations between genomics research and the attribution of meaning to genomic findings in the clinic (Rabeharisoa and Bourret, 2009, Harvey, 2011), the broader infrastructures for health care delivery, access and reimbursement of genomic technologies remain more obscure (Aarden, 2016). To address this void, the paper neither seeks to address only the cutting edge of advances in the field, nor does it seek to be comprehensive with regard to contributions genomics has made to understanding the complexity of breast cancer predispositions and progression of disease.…”