Electronic medical record documentation of germline genetic evaluations in patients with ovarian cancer.

Germline genetic evaluation is indicated for all patients with epithelial ovarian cancer (EOC). For testing to have clinical utility, results must be documented within the electronic medical record (EMR) and accessible to providers at the point of care, which can be challenging in the context of current EMR limitations and genetic testing processes. We examined the receipt of genetics services and EMR capture of genetic testing results in patients with EOC. We conducted a retrospective chart review to examine germline genetic evaluations among patients with EOC seen by a gynecologic or medical oncologist at the University of Pennsylvania in 2016. EMRs were reviewed to determine: (1) if patients were referred for genetic evaluation; (2) if genetic testing was performed; (3) if results were documented in office notes, scanned third-party test reports, and/or the EMR problem list; (4) if provider notes correctly listed the variant classification. Overall, 413 (62%) of patients had documented genetic testing. Genetic testing was documented in almost all provider notes (96%) and the majority of scanned EMR reports (64%). Pathogenic variants were found in 119 (29%) individuals; the majority (70%) had genetic testing documented within EMR problem lists. Provider notes were highly accurate in describing variant classification. In this study, genetic testing was performed and documented in the EMR for most EOC patients. Approximately one-third of those tested did not have scanned test reports specifying variant found, limiting the utility of test results for cascade testing and therapeutic decisions.

Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.

PURPOSE: Genetic testing may alter clinical management for individuals with metastatic prostate cancer by identifying additional therapies. Traditional counseling models are unlikely to enable time-sensitive therapeutic decision-making. This study aimed to determine the feasibility and clinical impact of an alternative hereditary genetic testing model. MATERIALS AND METHODS: As part of a multicenter, single-arm prospective trial, individuals with advanced prostate cancer were referred by their oncologist for testing of 14 genes associated with hereditary prostate cancer. Pretest education (brochure and video) was provided in the oncology clinic. Questionnaires assessing participant satisfaction with both pretest education and decision to undergo genetic testing were collected. A genetic counselor contacted participants by phone to obtain family history and discuss results. Medical records were queried to determine whether a change in clinical management was discussed. RESULTS: Of 501 participants consented to germline analysis, 51 (10.2%) had at least 1 pathogenic/likely pathogenic variant. Change in treatment was discussed with 22/48 (45.8%) of eligible participants who tested positive. Feasibility of this model was assessed by participant satisfaction and turnaround time. Average±SD satisfaction with the pretest education (15.5±2.2, 4-20 scale) and with the decision to undergo genetic testing (17.1±2.9, 4-20 scale) were both high. Results were returned 20 days (median) after sample collection. CONCLUSIONS: Oncologist-initiated germline genetic testing in collaboration with a genetic counselor is a feasible approach to testing advanced prostate cancer patients with impactful clinical actionability. The testing model and educational material serve as resources to clinicians treating prostate cancer patients.

Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer.

PURPOSE: To address demands for timely germline information to guide treatments, we evaluated experiences of patients with ovarian, pancreatic, and prostate cancer with a mainstreaming genetic testing model wherein multigene panel testing was ordered by oncologists with standardized pretest patient education, and genetic counselors delivered results and post-test genetic counseling via telephone. METHODS: Among 1,203 eligible patients, we conducted a prospective single-arm study to examine patient uptake and acceptability (via self-report surveys at baseline and three weeks and three months following result return) of this mainstreaming model. RESULTS: Only 10% of eligible patients declined participation. Among 1,054 tested participants, 10% had pathogenic variants (PV), 16% had variants of uncertain significance (VUS), and 74% had no variant identified (NV). Participants reported high initial acceptability, including high satisfaction with their testing decision. Variability over time in several outcomes existed for participants with PV or NV: those with NV experienced a temporary increase in depression (pTime < 0.001; pTime2 < 0.001), and those with PV experienced a small increase in genetic testing distress (p = 0.03). Findings suggested that result type, sex, and cancer type were also associated with outcomes including clinical depression and uncertainty. CONCLUSION: This mainstreaming model may offer a feasible approach for extending access to germline genetic information.

Genetic counseling and oncology: proposed approaches for collaborative care delivery.

Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has integrated into cancer care. There are currently an insufficient number of genetic counselors (GC) to address genetic testing need through traditional pre- and post-test counseling. Alternative genetic counseling frameworks, discussed here, are under study to increase access to genetic testing while optimizing the skillsets of existent master's-trained GCs.

Modifiable Risk Factors and Readiness to Change among Homeless Adults.

Objectives: In this study, we examined the prevalence of modifiable health risk factors (eg, smoking, unsafe sexual practices, at-risk drinking, low fruit/vegetable consumption, inadequate physical activity, and overweight/obesity) and readiness to change among homeless adults in Oklahoma City, OK. A secondary aim was to examine the relationship between self-rated health and readiness to change. Methods: We examined readiness to change using "ladder of change" variables. We used linear regression models to predict self-rated health and readiness to change. Results: Participants (N = 581) were largely smokers (79%), consumed less than 5 fruit and vegetable servings per day (64%) and were overweight or obese (64%). Many participants were ready to change at-risk drinking (56%), fruit/vegetable consumption (74%), and overweight/obesity (74%). Regression analyses indicated that low fruit/vegetable consumption and physical activity were associated with lower self-rated health. Lower self-rated health was not significantly related to readiness to change any health risk factors. Conclusions: Among homeless adults, the prevalence of modifiable health risk factors was high, as was readiness to change. Research is needed to reduce individual risk factors in this understudied population.

Single session imaging of cerebellum at 7 Tesla: obtaining structure and function of multiple motor subsystems in individual subjects.

The recent increase in the use of high field MR systems is accompanied by a demand for acquisition techniques and coil systems that can take advantage of increased power and accuracy without being susceptible to increased noise. Physical location and anatomical complexity of targeted regions must be considered when attempting to image deeper structures with small nuclei and/or complex cytoarchitechtonics (i.e. small microvasculature and deep nuclei), such as the brainstem and the cerebellum (Cb). Once these obstacles are overcome, the concomitant increase in signal strength at higher field strength should allow for faster acquisition of MR images. Here we show that it is technically feasible to quickly and accurately detect blood oxygen level dependent (BOLD) signal changes and obtain anatomical images of Cb at high spatial resolutions in individual subjects at 7 Tesla in a single one-hour session. Images were obtained using two high-density multi-element surface coils (32 channels in total) placed beneath the head at the level of Cb, two channel transmission, and three-dimensional sensitivity encoded (3D, SENSE) acquisitions to investigate sensorimotor activations in Cb. Two classic sensorimotor tasks were used to detect Cb activations. BOLD signal changes during motor activity resulted in concentrated clusters of activity within the Cb lobules associated with each task, observed consistently and independently in each subject: Oculomotor vermis (VI/VII) and CrusI/II for pro- and anti-saccades; ipsilateral hemispheres IV-VI for finger tapping; and topographical separation of eye- and hand- activations in hemispheres VI and VIIb/VIII. Though fast temporal resolution was not attempted here, these functional patches of highly specific BOLD signal changes may reflect small-scale shunting of blood in the microvasculature of Cb. The observed improvements in acquisition time and signal detection are ideal for individualized investigations such as differentiation of functional zones prior to surgery.

Multisensory perceptual learning reshapes both fast and slow mechanisms of crossmodal processing.

Previous research has shown that sounds facilitate perception of visual patterns appearing immediately after the sound but impair perception of patterns appearing after some delay. Here we examined the spatial gradient of the fast crossmodal facilitation effect and the slow inhibition effect in order to test whether they reflect separate mechanisms. We found that crossmodal facilitation is only observed at visual field locations overlapping with the sound, whereas crossmodal inhibition affects the whole hemifield. Furthermore, we tested whether multisensory perceptual learning with misaligned audio-visual stimuli reshapes crossmodal facilitation and inhibition. We found that training shifts crossmodal facilitation towards the trained location without changing its range. By contrast, training narrows the range of inhibition without shifting its position. Our results suggest that crossmodal facilitation and inhibition reflect separate mechanisms that can both be reshaped by multisensory experience even in adult humans. Multisensory links seem to be more plastic than previously thought.

Spatial shifts of audio-visual interactions by perceptual learning are specific to the trained orientation and eye.

A large proportion of the human cortex is devoted to visual processing. Contrary to the traditional belief that multimodal integration takes place in multimodal processing areas separate from visual cortex, several studies have found that sounds may directly alter processing in visual brain areas. Furthermore, recent findings show that perceptual learning can change the perceptual mechanisms that relate auditory and visual senses. However, there is still a debate about the systems involved in cross-modal learning. Here, we investigated the specificity of audio-visual perceptual learning. Audio-visual cuing effects were tested on a Gabor orientation task and an object discrimination task in the presence of lateralised sound cues before and after eight-days of cross-modal task-irrelevant perceptual learning. During training, the sound cues were paired with visual stimuli that were misaligned at a proximal (trained) visual field location relative to the sound. Training was performed with one eye patched and with only one Gabor orientation. Consistent with previous findings we found that cross-modal perceptual training shifted the audio-visual cueing effect towards the trained retinotopic location. However, this shift in audio-visual tuning was only observed for the trained stimulus (Gabors), at the trained orientation, and in the trained eye. This specificity suggests that multimodal interactions resulting from cross-modal (audio-visual) task-irrelevant perceptual learning involves so-called unisensory visual processing areas in humans. Our findings provide further support for recent anatomical and physiological findings that suggest relatively early interactions in cross-modal processing.