Student Involvement in Curriculum Development Enhances Medical Education

Background: During the 2014 annual review of the curriculum for first year medical students at the Medical College of Georgia, the public health module was noted as an area that needed improvement. To address this concern, a Public Health Curriculum Workgroup was formed for the purpose of identifying specific areas to improve and developing a more robust and integrative curriculum. A small cohort of medical students with public health backgrounds were invited to be members of this workgroup and participate in the development and delivery of public health content to the next cohort of first year medical students. We hypothesized that having this type of student participation results in a more clinically relevant and engaging curriculum. Methods: The curriculum workgroup met weekly to establish learning objectives, prioritize topics, and design interactive activities. The student members contributed to both curricular planning and content delivery. First year medical students completed course evaluations following the public health curriculum. These evaluations included five Likert scale questions and three narrative feedback response questions. Evaluation data before and after student involvement in the curriculum was examined. Results: Student evaluations of the overall quality of the public health curriculum increased 38% from 2014-2016. The measure of how well the content contributed to development as a future physician increased 36%. There was a 33% increase in how well the instructional materials aided understanding of topics. Theming of narrative evaluation comments showed that student involvement in the curriculum was well received. In 2016, 28.4% of narrative comments cited student presentations as the most valuable aspect of their public health experience. Conclusions: Involving medical students with public health backgrounds in curriculum development and content delivery of a public health module for first year medical students led to improvements in overall quality, clinical relevance, and instructional materials

Variability in remission in family therapy for anorexia nervosa.

ObjectiveThe evolution toward more stringent conceptualizations of remission in family therapy for adolescent anorexia nervosa (AN) has, with time, introduced variability in outcomes across randomized controlled trials (RCTs). An examination of remission across the history of research on family therapy for AN shows that earlier studies adopted lenient definitions and generally yielded higher rates of remission than studies of the past decade that have used stricter definitions of remission. In this study, we investigate the reactivity of remission rates to the application of different definitions of remission used within the family therapy for AN literature, within a single RCT data set.MethodWe conducted a secondary analysis of data from a single-site RCT which compared the relative efficacy of two formats of family therapy in a sample of 106 Australian adolescents with AN. Using end-of-treatment data, we compared remission rates using 11 definitions of remission that have been used in studies of family therapy for AN spanning more than three decades.ResultsWe found wide variability in remission rates (21.7-87.7%; Cochran's Q χ2 (10, N = 106) = 303.55, p = .000], depending on which definition of remission was applied. As expected, more lenient criteria produced higher remission rates than more stringent definitions.DiscussionApplying different criteria of remission to a single data set illustrates the impact of changing how remission is defined. Failure to consider the greater stringency of remission criteria in recent studies could result in false inferences concerning the efficacy of family therapy for AN over time

Is Vision Essential to Physical Therapist Practice? Perceptions of Interested Parties in DPT Education

Introduction: The perceptions of students, faculty, staff, and clinicians regarding blindness or visual impairment (BVI) and physical therapist practice were explored before, during, and after interactions with a Doctor of Physical Therapy (DPT) student with BVI. Review of Literature: Information is sparse about the prevalence of students with disabilities in DPT programs in the United States. Medical school programs that welcome students with disabilities report positive interactions with faculty and student peers. Subjects: 36 (20 students, 11 faculty, 2 staff, and 3 clinical instructors) Methods: A recent DPT graduate (pseudonym JM) with BVI classified as “near total blindness”, is now a licensed, full-time employee at an outpatient orthopedic clinic. We surveyed students, faculty, staff, and clinicians who interacted with JM as a DPT student, asking for perceptions about the education, clinical skills, and employment potential of a DPT student with BVI. Results: An increase toward more favorable perceptions of individuals with BVI was exhibited for all 10 of the Likert scale questions, X2(2)=38.00 to 59.42, p\u3c 0.001. Post hoc analysis demonstrated an increase between perceptions before and during interactions with JM for all questions, Z=-4.02 to -4.95, p\u3c 0.001. Six of 10 questions exhibited an increase between perceptions during and after interacting with JM, Z=-2.53 to -3.50 p≤ 0.011. Qualitative analysis revealed three themes: accommodations, personal qualities, and setting with an overarching theme of an approbative shift in perceptions. Discussion and Conclusion: The shift in perceptions about vision as essential for physical therapist practice is important and suggests that “essential functions” should be considered within the context of the individual’s characteristics and lived experiences. Reevaluation of DPT program applicant qualifications regarding vision may be warranted. Further, for clinical instructors, the benefits may outweigh the challenges of mentoring a student with accommodations for BVI

The Recombinational Anatomy of a Mouse Chromosome

Among mammals, genetic recombination occurs at highly delimited sites known as recombination hotspots. They are typically 1–2 kb long and vary as much as a 1,000-fold or more in recombination activity. Although much is known about the molecular details of the recombination process itself, the factors determining the location and relative activity of hotspots are poorly understood. To further our understanding, we have collected and mapped the locations of 5,472 crossover events along mouse Chromosome 1 arising in 6,028 meioses of male and female reciprocal F1 hybrids of C57BL/6J and CAST/EiJ mice. Crossovers were mapped to a minimum resolution of 225 kb, and those in the telomere-proximal 24.7 Mb were further mapped to resolve individual hotspots. Recombination rates were evolutionarily conserved on a regional scale, but not at the local level. There was a clear negative-exponential relationship between the relative activity and abundance of hotspot activity classes, such that a small number of the most active hotspots account for the majority of recombination. Females had 1.2× higher overall recombination than males did, although the sex ratio showed considerable regional variation. Locally, entirely sex-specific hotspots were rare. The initiation of recombination at the most active hotspot was regulated independently on the two parental chromatids, and analysis of reciprocal crosses indicated that parental imprinting has subtle effects on recombination rates. It appears that the regulation of mammalian recombination is a complex, dynamic process involving multiple factors reflecting species, sex, individual variation within species, and the properties of individual hotspots

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10 ) and AC058822.1 (P = 1.47 × 10 ), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10 ), demonstrating the importance of diversifying study cohorts. [Abstract copyright: © 2023. The Author(s).

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. RESULTS: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. CONCLUSIONS: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups

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