An Innovative Online Knowledge Translation Curriculum in Graduate Education.

BACKGROUND: There is increased acknowledgment of the importance of knowledge translation (KT) in the role of graduate-prepared healthcare practitioners, such as nurses, as change agents in the mobilization of evidence-based knowledge. The offering of flexible educational programming online and hybrid course delivery in higher education is a response to insufficient didactic methods for providing graduate students with the competencies to facilitate KT. AIMS: To describe the development, implementation, and evaluation of a cohort-based, online, innovative KT curriculum using a theoretical approach to KT called the Knowledge-As-Action Framework, which focuses on the knower, knowledge, and context as being inseparable. This process strategically engages with stakeholders to link practice concerns with existing realities, thus providing the best available knowledge to inform KT action in complex healthcare contexts. METHODS: The Model of Evidence-Informed, Context-Relevant, Unified Curriculum Development in Nursing Education guided the cohort-based online KT course process. The development, implementation, and evaluation involved (a) an environmental scan, (b) a literature review, (c) faculty development, (d) curriculum design of two 10-week courses, and (e) a summation of the concurrent participatory evaluation of the two courses, including faculty and student responses. The Knowledge-As-Action Framework is comprised of six interrelated dimensions as part of a "kite" metaphor, with the underlying premise that if any one of the dimensions results in an imbalance, the KT process may be grounded. RESULTS: Evaluation revealed (a) intentionality of the core processes of curriculum work; (b) effectiveness of indicators for evaluating the KT courses; (c) leadership should be added as a learning domain for KT; (d) the Knowledge-As-Action Framework provided an integrated, philosophical, and evidence-based approach to KT; (e) cohort model facilitated a community of inquiry; and (f) the formalized structured approach of the courses with ongoing supervision and mentoring allowed for timely completion. LINKING EVIDENCE TO ACTION: Teaching and learning in an online cohort model created a community of inquiry and facilitated experiential learning. The active engagement of students with their practice-based stakeholders promoted change in clinical settings and enhanced students' professional development to lead change.

The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.

BACKGROUND: Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, nonsense- and splice-site variants, although some larger pathogenic rearrangements occur. Currently, their contribution to familial breast cancer (BC) and ovarian cancer (OVC) in South Africa (SA) is unknown. METHODS: Seven hundred and forty-four patients affected with BC or OVC were screened for larger genomic rearrangements (LGRs) by means of multiplex ligation-dependent probe amplification or Next Generation Sequencing using the Oncomine™ BRCA research assay. RESULTS: The patients represented mostly medium to high-risk families, but also included lower risk patients without a family history of the disease, diagnosed at an early age of onset (< 40 years). Eight LGRs were detected (1.1%); seven in BRCA1 with a single whole gene deletion (WGD) detected for BRCA2. These eight LGRs accounted for 8.7% of the 92 BRCA1/2 pathogenic variants identified in the 744 cases. The pathogenic LGRs ranged from WGDs to the duplication of a single exon. CONCLUSIONS: Larger rearrangements in BRCA1/2 contributed to the overall mutational burden of familial BC and OVC in SA. Almost a quarter of all pathogenic variants in BRCA1 were LGRs (7/30, 23%). The spectrum observed included two WGDs, one each for BRCA1 and BRCA2.