Evaluating cancer genetic services in a safety net system: overcoming barriers for a lasting impact beyond the CHARM research project.

Underserved patients face substantial barriers to receiving cancer genetic services. The Cancer Health Assessments Reaching Many (CHARM) study evaluated ways to increase access to genetic testing for individuals in underserved populations at risk for hereditary cancer syndromes (HCS). Here, we report the successful implementation of CHARM in a low-resource environment and the development of sustainable processes to continue genetic risk assessment in this setting. The research team involved key clinical personnel and patient advisors at Denver Health to provide input on study methods and materials. Through iterative and collaborative stakeholder engagement, the team identified barriers and developed solutions that would both facilitate participation in CHARM and be feasible to implement and sustain long term in clinical care. With a focus on infrastructure building, educational modules were developed to increase awareness among referring providers, and standard methods of identifying and managing HCS patients were implemented in the electronic medical record. Three hundred sixty-four DH patients successfully completed the risk assessment tool within the study, and we observed a sustained increase in referrals to genetics for HCS (from 179 in 2017 to 427 in 2021 post-intervention). Implementation of the CHARM study at a low-resourced safety net health system resulted in sustainable improvements in access to cancer genetic risk assessment and services that continue even after the study ended.Trial registration NCT03426878.

Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution.

PURPOSE: This study describes challenges faced while incorporating sometimes conflicting stakeholder feedback into study design and development of patient-facing materials for a translational genomics study aiming to reduce health disparities among diverse populations. METHODS: We conducted an ethnographic analysis of study documents including summaries of patient advisory committee meetings and interviews, reflective field notes written by study team members, and correspondence with our institutional review board (IRB). Through this analysis, we identified cross-cutting challenges for incorporating stakeholder feedback into development of our recruitment, risk assessment, and informed consent processes and materials. RESULTS: Our analysis revealed three key challenges: (1) balancing precision and simplicity in the design of study materials, (2) providing clinical care within the research context, and (3) emphasizing potential study benefits versus risks and limitations. CONCLUSIONS: While involving patient stakeholders in study design and materials development can increase inclusivity and responsiveness to patient needs, patient feedback may conflict with that of content area experts on the research team and IRBs who are tasked with overseeing the research. Our analysis highlights the need for further empirical research about ethical challenges when incorporating patient feedback into study design, and for dialogue with genomic researchers and IRB representatives about these issues.

Infant with Clinical Evidence of Pulmonary Hypoplasia: A Case Report.

Pulmonary hypoplasia is the incomplete development of lung tissue. A reduced number of lung cells, airways, and alveoli is the hallmark and can be seen unilaterally or in both lungs. The diagnosis, however, is usually made upon pathologic examination. Here we have presented a case of a term infant presenting with severe hypoxemic respiratory failure. Despite optimizing medical and respiratory management, the infant passed away at 22 hours of life. On autopsy, she was discovered to have bilateral diaphragmatic eventrations, which is a rare cause of secondary pulmonary hypoplasia. She also was found to have some other minor abnormalities on autopsy but no unifying cause for the eventrations and other abnormalities was elucidated.

Discharge Planning and Hospital Readmissions.

This study examines the association between the quality of hospital discharge planning and all-cause 30-day readmissions and same-hospital readmissions. The sample included adults aged 18 years and older hospitalized in 16 states in 2010 or 2011 for acute myocardial infarction, heart failure, pneumonia, or total hip or joint arthroplasty. Data from the Hospital Consumer Assessment of Healthcare Providers and Systems measured discharge-planning quality at the hospital level. A generalized linear mixed model was used to estimate the contribution of patient and hospital characteristics to 30-day all-cause and same-hospital readmissions. Discharge-planning quality was associated with (a) lower rates of 30-day hospital readmissions and (b) higher rates of same-hospital readmissions for heart failure, pneumonia, and total hip or joint replacement. These results suggest that by improving inpatient discharge planning, hospitals may be able to influence their 30-day readmissions and increase the likelihood that readmissions will be to the same hospital.

Genome Sequence of Mycobacterium Phage Waterfoul.

Waterfoul is a newly isolated temperate siphovirus of Mycobacterium smegmatis mc2155. It was identified as a member of the K5 cluster of Mycobacterium phages and has a 61,248-bp genome with 95 predicted genes.

"Tele-rounding" with a remotely controlled mobile robot in the neonatal intensive care unit.

OBJECTIVE: To investigate the feasibility of 'tele-rounding' in the neonatal intensive care. METHODS: In this prospective study utilizing telemedicine technology in the NICU for daily patient bedside rounds ('tele-rounds'), twenty pairs of neonates were matched according to gestational age, diagnoses, and disease severity. One patient was cared for by the on-site NICU team lead by an on-site neonatologist. The other patient was cared for by the on-site team but led by an off-site neonatologist using a remote-controlled robot. Patient rounding data, clinical outcomes, length of stay, and hospital costs were compared between the two groups. Parents and staff were also surveyed about their satisfaction with telemedicine. RESULTS: Except for one parameter, no significant differences in care or outcomes were found between patients cared for by either neonatologist. The exception was the time the off-site neonatologist spent on the patient encounter compared to the on-site neonatologist (median [interquartile range]), (5 minutes [5, 6] vs. 8 minutes [7, 10.5], p = 0.002). This difference was due primarily to time needed to operate and maneuver the robot or occasionally to slower or dropped connection to the Internet. There were positive perceptions of telemedicine among both parents and NICU staff. CONCLUSION: As long as direct bedside care providers are available, remote-controlled, robotic telemedicine technology can be utilized by neonatologists to perform daily patient rounds in the neonatal intensive care unit.

Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect.

There is very little data linking the use of immunomodulating agents following solid organ transplantation in pregnant women with specific congenital anomalies in the offspring. Here we report on a late preterm infant with multiple, nonsyndromic, congenital anomalies including microtia/anotia, cleft lip and palate, micrognathia, ocular hypertelorism, microphthalmia and cataracts, complex congenital heart disease, rib anomalies, and intestinal malrotation. The similarity of the complex anomalies in our case to other reported cases suggests that the abnormalities are likely due to mycophenolate mofetil alone or in combination with other immunosuppressive medications taken by the mother during pregnancy.