Process and Relationship: A Walking-Dialogue

As an interdisciplinary duo from an academic library background and a performing arts background, we underwent a process of recording a series of dialogues about our respective research practices in and between our fields. As we conversed, we walked in separate locations while remaining connected by our phones, permitting us to explore a kinetic and spontaneous approach as a mode of inquiry. An experiment and intended provocation to demonstrate that, just as there are other ways to research, there are other ways of knowing, generating, and presenting ideas that articulate the value of alternative methods within the academy, specifically within the realm of arts-based research. Troubled by the fact that what we perform and produce as research is not easily sanctioned as “research” within the library or the academy, we discuss what it is about these arts-based methods of experimentation, creation, practice, and knowledge-seeking that we find so generative and value so highly. The main themes that we circled and returned to throughout this walking-dialogue fell into the following categories: embodiment on a local, living landscape; fragmentation, collage, and the interstices of juxtaposition; unknowing, failure and doubt; and diverse ways of knowing

The challenge of involving elderly patients in primary care by using an electronic communication tool with their professionals: a mixed methods study

Background: Elderly patients in primary care often have multiple health problems,with different healthcare professionals involved. For consistency in care, it is required that communication amongst professionals and patient-systems (patient and informal-carers) be well tuned. Electronic-communication can make it easier for patient-system to be active in care.Objective: To examine whether an e-communication tool (Congredi) designed for professionals, including a care plan and secure e-mail, is usable for patient-systems and what their experiences are.Methods: In a multi-method study, home-dwelling elderly patients with two or more professionals were invited to use Congredi; data were gathered from the system after 42 weeks. Also semi-structured interviews were undertaken with patient-systems with topics retrieved from literature. Analysis took place by two researchers independently; the themes were extracted together by consensus.Results: Data about actual use of the tool were gathered from 22 patients. Four profiles of Congredi-users were distinguished, varying in intensity of use. Data from  interviews with members of patient-systems (n = 7) showed that they were motivated and able to use Congredi. Barriers in daily use were limited participation of professionals, unanswered e-mail and not being alerted about actions. Despite limitations, patient-systems retained their motivation.Conclusion: Congredi was usable for patient-systems. The barriers found seem not to be tool-related but primarily user-related. An important barrier for daily use was limited active participation of involved professionals in a complete feedback loop. Potential for future implementation was found, as patient-systems were intrinsically motivated for better feedback with the professionals, even though in this study it only partly met their expectations

Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

The challenge of involving elderly patients in primary care using an electronic communication tool with their professionals : A mixed methods study

Background: Elderly patients in primary care often have multiple health problems, with different healthcare professionals involved. For consistency in care, it is required that communication amongst professionals and patient-systems (patient and informal-carers) be well tuned. Electronic-communication can make it easier for patient-system to be active in care. Objective: To examine whether an e-communication tool (Congredi) designed for professionals, including a care plan and secure e-mail, is usable for patient-systems and what their experiences are. Methods: In a multi-method study, home-dwelling elderly patients with two or more professionals were invited to use Congredi; data were gathered from the system after 42 weeks. Also semi-structured interviews were undertaken with patient-systems with topics retrieved from literature. Analysis took place by two researchers independently; the themes were extracted together by consensus. Results: Data about actual use of the tool were gathered from 22 patients. Four profiles of Congredi-users were distinguished, varying in intensity of use. Data from interviews with members of patient-systems (n = 7) showed that they were motivated and able to use Congredi. Barriers in daily use were limited participation of professionals, unanswered e-mail and not being alerted about actions. Despite limitations, patient-systems retained their motivation. Conclusion: Congredi was usable for patient-systems. The barriers found seem not to be tool-related but primarily user-related. An important barrier for daily use was limited active participation of involved professionals in a complete feedback loop. Potential for future implementation was found, as patient-systems were intrinsically motivated for better feedback with the professionals, even though in this study it only partly met their expectations

Professionals' Use of a Multidisciplinary Communication Tool for Patients With Dementia in Primary Care

In this descriptive study, the use of a professional e-communication tool, Congredi, is evaluated. Ninety-six Congredi records of patients with dementia could be divided into the subgroups low-complex care (n = 43) and high-complex care (n = 53). If Congredi is an adequate communication tool for professionals, the changing involvement of caregivers must also be reflected within the two subgroups. We hypothesized that use would be more intensive in the high-complex group in comparison with the low-complex group. Data were gathered during 42 weeks. Results showed that the mean number of care activities in the high-complex group was significantly higher than in the low-complex group (10.43 vs 5.61, P = .001). The number of professionals involved with the high-complex care group (3.58) was higher compared to the low-complex care group (2.51) (P = .000). The most frequent use was by case managers and nurses (43.4%) in the high-complex group and by several case managers (41.9%) in the low-complex group. It was concluded that professionals used Congredi adequately in the multidisciplinary care of patients with dementia because the changing involvement of caregivers and the level of care activities were reflected in the use of Congred