Rural family medicine training site: Proposed framework.

OBJECTIVE: To develop a framework for a successful rural family medicine training program and to assess the potential for a rural family medicine residency training program using the Weyburn and Estevan areas of Saskatchewan as test sites. DESIGN: A mixed-method design was used; however, the focus of this article was on the qualitative data collected. Questions formulated for the semistructured interviews evolved from the literature. SETTING: Rural Saskatchewan. PARTICIPANTS: Community physicians and representatives from the Sun Country Regional Health Authority, the Saskatchewan Ministry of Health, and the University of Saskatchewan. METHODS: The data were documented during the interviews using a laptop computer, and the responses were reviewed with participants at the end of their interviews to ensure accuracy. The qualitative data collected were analyzed using inductive thematic analysis. MAIN FINDINGS: Through the analysis of the data several themes emerged related to implementing a rural family medicine residency training program. Key predictors of success were physical resources, physician champions, physician teachers, educational support, administrative support, and other specialist support. Barriers to the development of a rural family medicine training site were differing priorities, lack of human resources, and lack of physical resources. CONCLUSION: A project of this magnitude requires many people at different levels collaborating to be successful.

Basic Research Protocol: Exome Sequencing in Adults With Loin Pain Hematuria Syndrome: A Pilot Study.

Background: Loin pain hematuria syndrome (LPHS) is a poorly understood clinical syndrome characterized by hematuria and either unilateral or bilateral severe kidney pain in the absence of identifiable urological disease. Loin pain hematuria syndrome imposes a significant health and economic impact with a loss of productivity and quality of life in a young population. Owing to an incomplete understanding of its pathophysiology, treatment has been limited to nonspecific pain management. Nearly 60 years after its initial description, we are no further ahead in understanding the molecular pathways involved in LPHS. Objective: To outline the study design for exome sequencing in adults with LPHS and their families. Methods: In this single-center case series, 24 patients with LPHS and 2 additional first-degree family members per participant will be recruited. DNA extracted from venous blood samples will undergo exome sequencing on the Illumina NovaSeq 6000 System at 100× depth and will be assessed for pathogenic variants in genes associated with hematuria (number of genes in: glomerular endothelium [n = 10] and basement membrane [n = 8]), and pain pathways (number of genes in: pain transduction [n = 17], conduction [n = 8], synaptic transmission [n = 37], and modulation [n = 27]). We will further examine identified potentially pathogenic variants that co-segregate with LPHS features among affected families. Conclusions: This pilot study may identify new directions for an investigation into the molecular mechanisms underlying LPHS.

Contexte: Le syndrome de lombalgie-hématurie est un syndrome clinique encore mal compris qui se caractérise par une hématurie et une forte douleur rénale unilatérale ou bilatérale en l'absence d'une maladie urologique identifiable. Le syndrome de lombalgie-hématurie a une incidence importante sur la santé et l'économie en entraînant une perte de productivité et de qualité de vie dans une population jeune. La compréhension de la physiopathologie de ce syndrome étant incomplète, le traitement a été limité à la gestion non spécifique de la douleur. Près de soixante ans après sa description initiale, nous en sommes au même point dans la compréhension des voies moléculaires impliquées dans le syndrome de lombalgie-hématurie. Objectif: Décrire le plan de l'étude pour le séquençage de l'exome chez les adultes atteints du syndrome de lombalgie-hématurie et des membres de leur famille. Méthodologie: Pour cette série de cas menée dans un seul center, nous recruterons 24 patients atteints du syndrome de lombalgie-hématurie et deux membres au premier degré de leur famille. L'ADN extrait d'échantillons de sang veineux sera soumis à un séquençage de l'exome sur le système Ilumina NovaSeq 6000 réglé à 100X de profondeur. Il sera également analysé pour la présence de variants pathogènes dans les gènes associés à l'hématurie (nombre de gènes dans l'endothélium glomérulaire [n = 10] et la membrane basale [n = 8]), et aux voies de transmission de la douleur (nombre de gènes dans la transduction [n = 17], la conduction [n = 8], la transmission synaptique [n = 37] et la modulation [n = 27] de la douleur). Nous poursuivrons l'examen des variants potentiellement pathogènes identifiés qui co-ségrègent avec les caractéristiques du syndrome de lombalgie-hématurie parmi les familles touchées. Conclusion: Cette étude pilote pourrait révéler de nouveaux axes de recherche sur les mécanismes moléculaires qui sous-tendent le syndrome de lombalgie-hématurie.

Interpretation and management of genetic test results by Canadian family physicians: a multiple choice survey of performance.

Family physicians (FPs) will encounter genetic concerns within community practice. To determine how FPs compare to genetic counselors (GCs), a cross-sectional survey was distributed to Canadian FPs and GCs in 2019. The survey assessed risk analysis, counseling, and management of genetic information. FPs performed less well than GCs on each survey question and scenario (p < 0.05). Average overall survey scores for FPs were lower than GCs (62% vs. 93%, p < 0.001). Additional genetic training for FPs may help avoid potential harm.