Citations

Efforts to characterize stakeholder attitudes about the implementation of genomic medicine would benefit from a validated instrument for measuring public views of the potential benefits and harms of genomic technologies, which would facilitate comparison across populations and clinical settings. We sought to develop a scale to evaluate attitudes about the future of genomic medicine. We developed a 21‐item scale that examined the likelihood of various outcomes of genomic medicine. The scale was administered to participants in a genomic sequencing study. Exploratory factor analysis was conducted and bivariate correlations were calculated. The genomic orientation (GO) scale was completed by 2895 participants. A two‐factor structure was identified, corresponding to an optimism subscale (16 items, α = 0.89) and a pessimism subscale (5 items, α = 0.63). Genomic optimism was positively associated with a perceived value of genetic test results, higher health literacy, and decreased decisional conflict about participation in a genomic research study. Genomic pessimism was associated with concerns about genetic testing, lower health literacy, and increased decisional conflict about the decision to participate in the study. The GO scale is a promising tool for measuring both positive and negative views regarding the future of genomic medicine and deserves further validation.

Purpose: To investigate the musculus uvulae morphology in vivo in adults with normal velopharyngeal anatomy and to examine sex and race effects on the muscle morphology. We also sought to provide a preliminary comparison of musculus uvulae morphology in adults with normal velopharyngeal anatomy to adults with repaired cleft palate. Methods: Three-dimensional magnetic resonance imaging data and Amira 5.5 Visualization Modeling software were used to evaluate the musculus uvulae in 70 participants without cleft palate and 6 participants with cleft palate. Muscle length, thickness, width, and volume were compared among participant groups. Results: Analysis of covariance analysis did not yield statistically significant differences in musculus uvulae length, thickness, width, or volume by race or sex among participants without cleft palate when the effect of body size was accounted for. Two-sample t test revealed that the musculus uvulae in participants with repaired cleft palate is significantly shorter ( P = .008, 13.65 mm vs 16.07 mm) and has less volume ( P = .002, 51.08 mm 3 vs 97.62 mm 3 ) than participants without cleft palate. Conclusion: In adults with normal velopharyngeal anatomy, the musculus uvulae is a cylindrical oblong-shaped muscle lying on the nasal surface of the soft palate, with its greatest bulk located just nasal to the levator veli palatini muscle sling. In participants with repaired cleft palate, the musculus uvulae is substantially reduced in volume. This diminished muscle bulk located just at the point where the palate contacts the posterior pharyngeal wall may contribute to velopharyngeal insufficiency in children with repaired cleft palate.

Purpose We assessed the decision-making of individuals pursuing genomic sequencing without a requirement for pretest genetic counselling. We sought to describe the extent to which individuals who decline genetic counselling reported decisional conflict or struggled to make a decision to pursue genomic testing. Methods We administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. The primary outcomes of interest were self-reported decisional conflict about the decision to participate in the study and time required to reach a decision. Results We received 2895 completed surveys (response rate=95.3%), and of these respondents 97.8% completed the decisional conflict scale in its entirety. A majority of individuals (63%) had minimal or no decisional conflict about the pursuit of genomic sequencing and were able to reach a decision quickly (78%). Multivariable logistic regression analyses identified several characteristics associated with decisional conflict, including lower education, lower health literacy, lower self-efficacy in coping, lack of prior experience with genetic testing, not discussing study participation with a family member or friend, and being male. Conclusion As genomic sequencing is used more widely, genetic counselling resources may not be sufficient to meet demand. Our results challenge the notion that all individuals need genetic counselling in order to make an informed decision about genomic sequencing.

ObjectivesThe aim of this study was to investigate the reproducibility of a standardized method to assess the ultrasound liver‐to‐thoracic area ratio in fetuses with congenital diaphragmatic hernia.MethodsWe selected 24 images of 9 fetuses diagnosed with left‐sided at our institution between January 2010 and December 2017. Eight operators (1 maternal‐fetal medicine specialist and 7 sonographers) reviewed the selected images and assessed the ultrasound liver‐to‐thoracic area ratio according to a standardized protocol. We evaluated the correlation between operators using the intraclass correlation coefficient and compared agreement between the sonographers and a physician with experience in measuring the ultrasound liver‐to‐thoracic area ratio using a Bland‐Altman analysis.ResultsGood intraoperator reproducibility was observed for the standardized ultrasound liver‐to‐thoracic area ratio (intraclass correlation coefficient, 0.78). Good agreement among sonographers and the physician was also observed for the standardized measurements (bias, 0.01; precision, 0.03; limits of agreement, –0.05 to + 0.07).ConclusionsWe demonstrated that good intraoperator and interoperator reproducibility of ultrasound liver‐to‐thoracic area ratio assessment is feasible after standardizing the method in our center.

Background Cardiac resynchronization therapy results in improved ejection fraction in patients with heart failure. We sought to determine whether these effects were mediated by changes in contractility, afterload, or volumes. Methods and Results In 610 patients with New York Heart Association class I/ II heart failure from the Re synchronization Reverses Remodeling in Systolic Left Ventricular Dysfunction ( REVERSE ) study, we performed detailed quantitative echocardiography assessment prior to and following cardiac resynchronization therapy. We derived measures of contractility (the slope [end‐systolic elastance] and the volume intercept of the end‐systolic pressure–volume relationship, stroke work, and preload recruitable stroke work), measures of arterial load and ventricular–arterial coupling, and measures of chamber size (volume intercept, end‐systolic and end‐diastolic volumes). At 6 and 12 months, cardiac resynchronization therapy was associated with a reduction in the volume intercept and end‐systolic and end‐diastolic volumes ( P <0.01). There were no consistent effects on end‐systolic elastance, stroke work, preload recruitable stroke work, or ventricular–arterial coupling. In the active cardiac resynchronization therapy population, baseline measures of arterial load were associated with the clinical composite score (odds ratio 1.30, 95% CI 1.04 to 1.63, P =0.02). The volume intercept was associated with mortality (hazard ratio 1.90, 95% CI 1.01 to 3.59, P =0.047) and more modestly with the combined end point of mortality or heart failure hospitalization (hazard ratio 1.48, 95% CI 0.8 to 2.25, P =0.06). In contrast, end‐systolic elastance, stroke work, preload recruitable stroke work, and ventricular–arterial coupling were not associated with any outcomes. Conclusion In patients with NYHA Class I/ II heart failure, cardiac resynchronization therapy exerts favorable changes in left ventricular end‐systolic and end‐diastolic volumes and the volume intercept. The volume intercept may be useful to gain insight into prognosis in heart failure. Clinical Trial Registration URL : https://www.clinicaltrials.gov/ . Unique identifier: NCT 00271154.

ObjectivesThis study investigated the reproducibility of standardization of lung‐to‐head ratio measurements in congenital diaphragmatic hernia (CDH) at our center among sonographers after we standardized the method.MethodsWe reviewed ultrasound images of 12 fetuses with CDH at Mayo Clinic from 2010 to 2016. Nine operators (1 maternal‐fetal medicine specialist with experience in measuring the lung‐to‐head ratio and 8 sonographers), who were blinded to previous findings, reviewed 33 selected images from 12 fetuses with left CDH. The method for lung‐to‐head ratio measurement was standardized before starting the measurements. The lung‐to‐head ratio was assessed by different methods to obtain the lung areas: anteroposterior, longest, and area tracing. We evaluated the correlation between operators using the intraclass correlation coefficient (ICC). We also compared agreement between the sonographers and a physician with experience in measuring the lung‐to‐head ratio using a Bland‐Altman analysis.ResultsThe methods with the best interoperator reproducibility were the standardized anteroposterior lung‐to‐head ratio (ICC, 0.69) and the standardized lung‐to‐head ratio tracing (ICC, 0.65) compared to the longest lung‐to‐head ratio (ICC, 0.56). The standardized lung‐to‐head ratio tracing had the best agreement among sonographers and the physician (bias, 0.11; limits of agreement, −0.27 to +0.49) than the anteroposterior lung‐to‐head ratio (bias, 0.35; limits of agreement, −0.13 to + 0.83) and the longest lung‐to‐head ratio (bias, 0.27; limits of agreement, −0.35 to +0.89).ConclusionsWe demonstrated that the lung‐to‐head ratio tracing method has high interoperator reproducibility and the best agreement among the operators at our center. Further multicenter studies are necessary to confirm our results.