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Developing standardized patient-based cases for communication training: lessons learned from training residents to communicate diagnostic uncertainty.

ABSTRACT: Health professions education has benefitted from standardized patient (SP) programs to develop and refine communication and interpersonal skills in trainees. Effective case design is essential to ensure an SP encounter successfully meets learning objectives that are focused on communication skills. Creative, well-designed case scenarios offer learners the opportunity to engage in complex patient encounters, while challenging them to address the personal and emotional contexts in which their patients are situated. Therefore, prior to considering the practical execution of the patient encounter, educators will first need a clear and structured strategy for writing, organizing, and developing cases. The authors reflect on lessons learned in developing standardized patient-based cases to train learners to communicate to patients during times of diagnostic uncertainty, and provide suggestions to develop a set of simulation cases that are both standardized and diverse. Key steps and workflow processes that can assist educators with case design are introduced. The authors review the need to increase awareness of and mitigate existing norms and implicit biases, while maximizing variation in patient diversity. Opportunities to leverage the breadth of emotional dispositions of the SP and the affective domain of a clinical encounter are also discussed as a means to guide future case development and maximize the value of a case for its respective learning outcomes.

SUBMITTER: Papanagnou D

PROVIDER: S-EPMC8296470 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundGiven the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery.MethodsWe designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease. Pilot project data included 74 families, consisting mostly of parent-offspring trios. Analyses performed on a research basis employed both WES from additional family members and complementary bioinformatics approaches and protocols.ResultsAnalysis of all possible modes of Mendelian inheritance, focusing on both single nucleotide variants (SNV) and copy number variant (CNV) alleles, yielded a likely contributory variant in 36% (27/74) of cases. If one includes candidate genes with variants identified within a single family, a potential contributory variant was identified in a total of ~51% (38/74) of cases enrolled in this pilot study. The molecular diagnosis was achieved in 30/63 trios (47.6%). Besides this, the analysis workflow yielded evidence for pathogenic variants in disease-associated genes in 4/6 singleton cases (66.6%), 1/1 multiplex family involving three affected siblings, and 3/4 (75%) quartet families. Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed recent disease gene discoveries (PURA, TANGO2, EMC1, GNB5, ATAD3A, and MIPEP) and increased the number of novel genes, defined in this study as genes identified in more than one family (DHX30 and EBF3).ConclusionAn efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders. Implementing these approaches requires collaborative clinical molecular diagnostic and research efforts.

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Developing standardized patient-based cases for communication training: lessons learned from training residents to communicate diagnostic uncertainty.

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