Some 5–10% of all breast cancers are associated with a pathogenic variant in a breast cancer-associated gene (BRCA1/BRCA2). Historically, with referral to the Nottingham University Hospitals NHS Trust's clinical genetics department for genetic testing, waiting times were on average 12–14 weeks for an initial appointment and 4–6 months to obtain results from the date of testing. A specialist, nurse-led mainstreaming cancer genetics (MCG) service was set up in the trust's Nottingham Breast Institute (NBI) to: reduce waiting times for the initial consultation, counselling, consent and obtaining results for BRCA1/BRCA2 gene testing; and to ensure appropriate patients with breast cancer were offered genetic testing. Two breast clinical nurse specialists were trained so they could counsel, consent and give results for the BRCA1/BRCA2 gene testing directly to patients. Average waiting times for results from the time of testing were reduced to 35.8 days under the nurse-led service, which enabled oncologists and patients to consider individual treatment options at an earlier time. The MCG service reduced waiting times, resulting in an improved, more streamlined service for patients undergoing genetic testing. The MCG service extended the scope of practice of the breast nurse clinical specialists, embedded an expert advanced nursing role in the breast multidisciplinary team and developed nurse mentoring opportunities.
Recommended guidelines have limited breast cancer gene ( BRCA1 ) mutation testing to individuals with a personal or family history of early onset breast and/or ovarian cancer, and those with multiple affected close relatives. Such large breast cancer families are rare in the general population, limiting the clinical application of the BRCA1 discovery. Previous reports have suggested an association between medullary breast cancer and BRCA1 mutation carriers. To test the feasibility of using these rare histological subtypes as an alternative to epidemiological factors, 42 cases of medullary cancer unselected for family history were screened for BRCA1 point mutations and large exon rearrangements. The large majority (83%) of these patients did not have significant family of breast or ovarian cancer. Two deleterious mutations resulting in a premature stop codon, and one exon 13 duplication were found. All mutations were detected in patients with typical medullary cancer, who had family history of multiple breast and ovarian cancers. Our findings suggest that medullary breast cancers are not an indication for BRCA1 mutation screening in the absence of significant family risk factors.
<p>Increasing global populations are placing increasing pressure on our natural systems, reducing their capacity to produce the ecosystem services that we rely upon for human wellbeing (World Bank, 2004). Clarifying the implications of land-use decisions across the range of ecosystem services is fundamental to understanding the trade-offs inherent in land-use options. LUCI (the Land Utilization and Capability Indicator) is an emergent Geographic Information Systems (GIS) based framework developed to enable the mapping of several ecosystem services in a spatially explicit manner. This process enables a clearer understanding of the inter-dependencies between ecosystems and potential implications and trade-offs of management interventions across a range of services. There is however, limited understanding of the impact, utility and credibility of such tools for land-use decision-makers, or of how they perceive the information conveyed. This Thesis considered the impact that presenting information on land-use trade-offs through LUCI had on land-owners at the farm scale. This research supports previous findings that information alone does not drive behaviour (or decision-making) (Kollmuss, 2002, Fisk, 2011; Kennedy, 2010; Mackenzie-Mohr, 2000; Stern, 2000). Similarly, perceived credibility was not the main driver of decision-making nor is it necessarily rationally based. However without it, voluntary adoption of a new technology or tool is unlikely. Therefore, in seeking to diffuse tools, such as LUCI within a community, process design should take into account the social structures and the characteristics of targeted individuals within that community. The influence of temporal and context specific factors on decision-making provides both barriers and opportunities for technology diffusion. The research findings propose that when integrating new tools and technologies within communities, consideration is given to using a suite of tools, mechanisms and theories in concert such as Community-Based Social Marketing (Mackenzie-Mohr, 2011) and Diffusion Theory (Rogers, 2003) to facilitate improved diffusion and uptake by communities.</p>
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