Search

DNA-based screening in individuals without known risk factors potentially identifies those who may benefit from genetic counseling, early medical interventions, and/or avoidance of late or missed diagnoses. While not currently in widespread usage, technological advances in genetic analysis overcome barriers to access by enabling less labor-intensive and more cost-efficient means to discover variants of clinical importance. This study describes the technical validation of a 430-gene next-generation sequencing based assay, GeneCompassTM, indicated for the screening of healthy individuals in the areas of actionable health risks, pharmaceutical drug response, and wellness traits. The test includes genes associated with Mendelian disorders and genetic susceptibility loci, encompassing 14 clinical areas and pharmacogenetic variants. The custom-designed target enrichment capture and bioinformatics pipelines interrogate multiple variant types, including single nucleotide variants, insertions/deletions (indels), copy number variants, and functional haplotypes (star alleles), including tandem alleles and structural variants. Validation was performed against reference DNA from three sources: 1000 Genomes Project (n = 3), Coriell biobank (n = 105), and previously molecularly characterized biological specimens: blood (n = 15) and saliva (n = 11). Analytical sensitivity and specificity for single nucleotide variants (SNVs) were 97.57% and 99.99%, respectively, and for indels were 74.57% and 97.34%, respectively. This study demonstrates the validity of an NGS assay for genetic screening and the broadening of access to preventative genomics.

Conformational searching and semiempirical (AM1) structure optimizations have been carried out on low degree polymers of 3-phenyl-1-ureidonitrile (PUN), a system of interest for its potential application in thin-film ultra-high-density data storage. The predicted structural properties and vibrational frequencies are in good agreement with experimental data. Most notably, a downshift in this C–N stretching frequency upon polymerization and the absence of a peak near 2200 cm −1 in both the experimental and theoretical IR spectra, support the proposal that PUN film polymerizes by opening of the C N bond.

Objective We explore whether the completion of an obstetrics/gynecology clerkship is associated with a decline in the importance that students place on seeking permission from the patient before conducting a pelvic examination while she is anesthetized. Study design Students at five Philadelphia area medical schools (n = 401 students) were asked how important it would be for a patient to be told that a medical student will perform a pelvic examination while she is anesthetized. We examined associations between the completion of an obstetrics/gynecology clerkship and attitudes toward consent with the use of linear regression to adjust for gender and the total amount of clerkship experience. Results After the data were controlled for gender and the total number of clerkships that had been completed, we found that students who had completed an obstetrics/gynecology clerkship thought that consent was significantly less important than did those students who had not completed a clerkship (P =.01). Conclusion To avoid this decline in attitudes toward seeking consent, clerkship directors should ensure that students perform examinations only after patients have given consent explicitly.

Moral standards of informed consent hold that patients have the right to refuse to allow medical students to participate in their care.1 But before patients can choose whether to interact with medical students, they must know who is a medical student, either by introduction or by physical identification via name tags. Several studies have shown significant variability in hospital and departmental policies regarding how medical students should be verbally introduced to patients.2–4 In one study,2 only 51% of medical schools with policies regarding medical student introductions gave students specific instructions to identify themselves as “students”; 2% with policies actually instructed students to introduce themselves as “doctors.” Another study showed that medical students frequently introduce themselves the way resident and faculty physicians introduce them to patients.5 It is unlikely that a student can graduate from medical school without having been introduced to a patient as “Doctor” at least once. Indeed, in the first season of the popular television show ER, a medical student on rotation in the emergency department was frequently introduced as “Doctor Carter.” Often, the patients were not informed of his educational status, even as he performed procedures on them. These studies have focused on verbal introductions. Less attention has been devoted to the physical presentation of medical students to patients via their name tags. Verbal introductions usually take place once; name tags repeatedly reinforce a medical student's status to patients. The name tag is a physical cue that offers patients a reminder of whom they are dealing with, long after the verbal introduction has been forgotten. We conducted a literature search on the BIOETHICS and MEDLINE databases, and searched the bibliography of the articles we identified on medical students and informed consent, and found no empirical studies examining the physical introduction of medical students to patients via their name tags. In this study, we explore how U.S. medical students doing clinical rotations are physically identified to patients via their name tags, and how patients interpret the educational status conveyed by those name tags.

A novel conformational searching scheme is employed to identify low energy structures for low-degree polymers of 3-phenyl-1-ureidonitrile, a proposed thin film data storage material. Vibrational analysis of the predicted polymer structures is consistent with experimental reports and supports the experimentally proposed polymerization mechanism.

To study the attitudes of preclinical and clinical medical students toward the importance of telling patients they are students, and to compare their attitudes with those of patients.We conducted a cross-sectional survey of medical students from five Philadelphia medical schools, and a longitudinal follow-up in one medical school, to assess the importance students place on telling patients they are medical students before interacting with them. We asked similar questions of 100 general medical outpatients from two academically affiliated hospitals.In total, 2,603 students (58%) responded to the cross-sectional survey, 74 (50%) responded to the longitudinal survey, and 100 patients responded to our interview survey (94% response rate). In the cross-sectional survey, there were negligible differences in the importance that patients and medical students placed on informing alert patients that they are interacting with students in nonsurgical settings. In surgical settings involving anesthetized patients, patients placed significantly more importance on being informed of students' roles in their surgery than did students, and preclinical students placed more importance on this than did clinical students. Results from the cross-sectional survey were supported by the longitudinal survey, in which fourth-year medical students placed significantly less importance on informing patients of their student status than the same cohort had done 2 years previously.Medical students place less importance on informing patients about their student status than patients desire, especially in surgical settings in which the patient is to be anesthetized. Medical students already having completed a clinical rotation stray further from patient ideals than preclinical medical students. These findings suggest that, as medical students advance in their training, they suffer an erosion in their attitudes about telling patients they are students.

Objective To explore how U.S. medical students doing clinical rotations are physically identified to patients via their name tags, and how patients interpret the educational status conveyed by those name tags.