Automated Time-Released Reminders Improve Patient Access to Colonoscopy.

Unscheduled colonoscopy orders lead to missed opportunities for early diagnosis and screening. The aim of this study was to evaluate the effect of an automated time-released reminder program on conversion of colonoscopy orders to scheduled cases. In this prospective study, we compared patients ordered for a colonoscopy who were enrolled in an automated reminder program (intervention) with a historical cohort of patients ordered for a colonoscopy who did not receive scheduling reminders (control). The intervention group received automated text message and email reminders using a software platform at 1, 7, and 14 days after a colonoscopy order was placed. The percentage of colonoscopies scheduled within 14 days of order placement improved from 66.0% in the control group to 73.4% in the intervention group (p = .001). The percentage of colonoscopies scheduled within 30 days improved from 73.6% to 90.0% (p < .0001). For colonoscopies ordered by a nongastroenterologist, the percentage of cases scheduled within 30 days of order placement improved from 65.8% in the control group to 90.0% in the intervention group (p < .0001). There was a 10% decrease in phone calls with endoscopy staff for the intervention group relative to the control group. Automated reminders for colonoscopy scheduling improve efficiency in colonoscopy scheduling.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Next-generation sequencing provides the opportunity to practice predictive medicine based on identified variants. Putative loss-of-function (pLOF) variants are common in genomes and understanding their contribution to disease is critical for predictive medicine. To this end, we characterized the consequences of pLOF variants in an exome cohort by iterative phenotyping. Exome data were generated on 951 participants from the ClinSeq cohort and filtered for pLOF variants in genes likely to cause a phenotype in heterozygotes. 103 of 951 exomes had such a pLOF variant and 79 participants were evaluated. Of those 79, 34 had findings or family histories that could be attributed to the variant (28 variants in 18 genes), 2 had indeterminate findings (2 variants in 2 genes), and 43 had no findings or a negative family history for the trait (34 variants in 28 genes). The presence of a phenotype was correlated with two mutation attributes: prior report of pathogenicity for the variant (p = 0.0001) and prior report of other mutations in the same exon (p = 0.0001). We conclude that 1/30 unselected individuals harbor a pLOF mutation associated with a phenotype either in themselves or their family. This is more common than has been assumed and has implications for the setting of prior probabilities of affection status for predictive medicine.

Addressing racial bias in wards.

Health disparities fall along racial lines, in part, due to structural inequalities limiting health care access. The concept of race is often taught in health professions education with a clear biologic underpinning despite the significant debate in the literature as to whether race is a social or biologic construct. The teaching of race as a biologic construct, however, allows for the simplification of race as a risk factor for disease. As health care providers, it is part of our professional responsibility and duty to patients to think and talk about race in a way that is cognizant of broader historical, political, and cultural literature and context. Openly discussing the topic of race in medicine is not only uncomfortable but also difficult given its controversies and complicated context. In response, we provide several evidence-based steps to guide discussions around race in clinical settings, while also hopefully limiting the use of bias and racism in the practice of medicine.

Applying Concept Mapping Methodology to Identify the Perceptions of Risk and Protective Factors for Childhood Obesity among Southeast Asian Refugees.

BACKGROUND: This study identifies Southeast Asian refugee parents' and grandparents' perceptions of the risk and protective factors for childhood obesity. METHODS: We used a mixed methods approach (concept mapping) for data collection and analyses. Fifty-nine participants engaged in modified nominal group meetings where they generated statements about children's weight status and structuring meetings where they sorted statements into piles based on similarity and rated statements on relative importance. Concept Systems® software generated clusters of ideas, cluster ratings, and pattern matches. RESULTS: Eleven clusters emerged. Participants rated "Healthy Food Changes Made within the School" and "Parent-related Physical Activity Factors" as most important, whereas "Neighborhood Built Features" was rated as the least important. Cambodian and Hmong participants agreed the most on cluster ratings of relative importance (r = 0.62). CONCLUSION: The study findings may be used to inform the development of culturally appropriate obesity prevention interventions for Southeast Asian refugee communities.

Interpreting secondary cardiac disease variants in an exome cohort.

BACKGROUND: Massively parallel sequencing to identify rare variants is widely practiced in medical research and in the clinic. Genome and exome sequencing can identify the genetic cause of a disease (primary results), but it can also identify pathogenic variants underlying diseases that are not being sought (secondary or incidental results). A major controversy has developed surrounding the return of secondary results to research participants. We have piloted a method to analyze exomes to identify participants at risk for cardiac arrhythmias, cardiomyopathies, or sudden death. METHODS AND RESULTS: Exome sequencing was performed on 870 participants not selected for arrhythmia, cardiomyopathy, or a family history of sudden death. Exome data from 22 cardiac arrhythmia- and 41 cardiomyopathy-associated genes were analyzed using an algorithm that filtered results on genotype quality, frequency, and database information. We identified 1367 variants in the cardiomyopathy genes and 360 variants in the arrhythmia genes. Six participants had pathogenic variants associated with dilated cardiomyopathy (n=1), hypertrophic cardiomyopathy (n=2), left ventricular noncompaction (n=1), or long-QT syndrome (n=2). Two of these participants had evidence of cardiomyopathy and 1 had left ventricular noncompaction on echocardiogram. Three participants with likely pathogenic variants had prolonged QTc. Family history included unexplained sudden death among relatives. CONCLUSIONS: Approximately 0.5% of participants in this study had pathogenic variants in known cardiomyopathy or arrhythmia genes. This high frequency may be due to self-selection, false positives, or underestimation of the prevalence of these conditions. We conclude that clinically important cardiomyopathy and dysrhythmia secondary variants can be identified in unselected exomes.