Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from in vivo or in vitro studies, and computational predictions of potential impacts of each variant. Finally, we weigh all evidence to reach an overall conclusion on the potential for each variant to be disease-causing. In this report, we highlight the principles of variant assessment, address the caveats and pitfalls, and provide examples to illustrate the process. By sharing our experience and providing a framework for variant assessment, including access to a freely available customizable tool, we hope to help move towards standardized and consistent approaches to variant assessment.

The evidence presented in the 19 articles indicates that the use of SPs to teach nurse-patient communication skills targets more challenging clinical interactions. Engaging SPs in both CST program facilitation and course evaluation provides nurse educators with a strong foundation to develop further pedagogical and research capacity. Expanding the utilisation of SPs to augment nurses' communication skills and ability to engage with patients in a broader range of clinical contexts with increased methodological rigor is recommended.

Cross-training and interprofessional educational from undergraduate to postgraduate programmes will better align the training of nurses and physicians to communicate effectively. Further research is needed to determine the feasibility and generalisability of interventions, such as localising physicians and using communication tools, to improve nurse-physician communication. Organisational and cultural changes are needed to overcome ingrained practices impeding nurse-physician communication.

A scoping review aims to systematically explore and map the research available from a wide range of sources. The objective of this study was to produce a scoping review checklist to guide future scoping studies to enable rigorous review and critique of phenomena of interest. The methods used included a review of literature, expert consensus group meetings, a modified Delphi survey and, finally, verification against recent scoping study examples. Results showed that the checklist was able to identify key elements of scoping reviews. The 22-item Scoping Review Checklist (SRC), which includes two optional stakeholder consultation items, has been developed using rigorous recommended approaches. The checklist can be used to guide the conduct and critique of scoping studies.

BackgroundThe phenomenon of being ‘with woman’ is fundamental to midwifery as it underpins its philosophy, relationships and practices. There is an identified gap in knowledge around the ‘with woman’ phenomenon from the perspective of midwives providing care in a variety of contexts. As such, the aim of this study was to explore the experiences of being ‘with woman’ during labour and birth from the perspective of midwives’ working in a model where care is provided by a known midwife.MethodsA descriptive phenomenological design was employed with ten midwives working in a ‘known midwife’ model who described their experiences of being ‘with woman’ during labour and birth. The method was informed by Husserlian philosophy which seeks to explore the same phenomenon through rich descriptions by individuals revealing commonalities of the experience.ResultsFive themes emerged 1) Building relationships; 2) Woman centred care; 3) Impact on the midwife; 4) Impact on the woman; and 5) Challenges in the Known Midwife model. Midwives emphasised the importance of trusting relationships while being ‘with woman’, confirming that this relationship extends beyond the woman – midwife relationship to include the woman’s support people and family. Being ‘with woman’ during labour and birth in the context of the relationship facilitates woman-centred care. Being ‘with woman’ influences midwives, and, it is noted, the women that midwives are working with. Finally, challenges that impact being ‘with woman’ in the known midwife model are shared by midwives.ConclusionsFindings offer valuable insight into midwives’ experiences of being ‘with woman’ in the context of models that provide care by a known midwife. In this model, the trusting relationship is the conduit for being ‘with woman’ which influences the midwife, the profession of midwifery, as well as women and their families. Descriptions of challenges to being ‘with woman’ provide opportunities for professional development and service review. Rich descriptions from the unique voice of midwives, provided insight into the applied practices of being ‘with woman’ in a known midwife model which adds important knowledge concerning a phenomenon so deeply embedded in the philosophy and practices of the profession of midwifery.