Improving Smoking Cessation Counseling Using a Point-of-Care Health Intervention Tool (IT): From the Virginia Practice Support and Research Network (VaPSRN)

Purpose: Primary care practices are an ideal setting for reducing national smoking rates because >70% of smokers visit their physician annually, yet smoking cessation counseling is inconsistently delivered to patients. We designed and created a novel software program for handheld computers and hypothesized that it would improve clinicians' ability to provide patient-tailored smoking cessation counseling at the point of care. Methods: A handheld computer software program was created based on smoking cessation guidelines and an adaptation of widely accepted behavioral change theories. The tool was evaluated using a validated before/after survey to measure physician smoking cessation counseling behaviors, knowledge, and comfort/self-efficacy. Results: Participants included 17 physicians (mean age, 41 years; 71% male; 5 resident physicians) from a practice-based research network. After 4 months of use in direct patient care, physicians were more likely to advise patients to stop smoking (P = .049) and reported an increase in use of the “5 As” (P = .03). Improved self-efficacy in counseling patients regarding smoking cessation (P = .006) was seen, as was increased comfort in providing follow-up to patients (P = .04). Conclusions: Use of a handheld computer software tool improved smoking cessation counseling among physicians and shows promise for translating evidence about smoking cessation counseling into practice and educational settings.This is the publisher’s final pdf. The published article can be found at: http://www.jabfm.org/Keywords: Practice-based Research, Health Information Technology, Smoking Cessation, Behavioral Counselin

Does Informed Consent Alter Elderly Patients' Preferences for Colorectal Cancer Screening?: Results of a Randomized Trial

OBJECTIVE: To assess the impact of informed consent on el–derly patients' colorectal cancer (CRC) screening preferences. DESIGN: Randomized, controlled trial. SETTING: Four general internal medicine practices. PATIENTS: We studied 399 elderly patients visiting their primary care provider for routine office visits. INTERVENTIONS: Patients were randomized to receive either a scripted control message briefly describing CRC screening methods or one of two informational interventions simulating an informed consent presentation about CRC screening. One intervention described CRC mortality risk reduction in relative terms; the other, in absolute terms. MEASUREMENTS AND MAIN RESULTS: The main outcome measure was intent to begin or continue fecal occult blood testing (FOBT), flexible sigmoidoscopy, or both. There was no difference in screening interest between the control group and the two information groups (p = .8). The majority (63%) of patients intended to begin or continue CRC screening. Informed patients were able to gauge more accurately the positive predictive value of screening (p = .0009). Control patients rated the efficacy of screening higher than did patients receiving relative risk reduction information, who rated it higher than did patients receiving absolute risk reduction information (p = .0002). CONCLUSIONS: Elderly patients appeared to understand CRC screening information and use it to gauge the efficacy of screening, but provision of information had no impact on their preferences for screening. In view of the large proportion who preferred not to be screened, we conclude that elderly patients should be involved in the screening decision. However, factors other than provision of information must determine their CRC screening preferences

Patient Safety in the Ambulatory Setting: A Clinician-based Approach

BACKGROUND: Voluntary reporting of near misses/adverse events is an important but underutilized source of information on errors in medicine. To date, there is very little information on errors in the ambulatory setting and physicians have not traditionally participated actively in their reporting or analysis. OBJECTIVES: To determine the feasibility and effectiveness of clinician-based near miss/adverse event voluntary reporting coupled with systems analysis and redesign as a model for continuous quality improvement in the ambulatory setting. DESIGN: We report the initial 1-year experience of voluntary reporting by clinicians in the ambulatory setting, coupled with root cause analysis and system redesign by a patient safety committee made up of clinicians from the practice. SETTING: Internal medicine practice site of a large teaching hospital with 25,000 visits per year. MEASUREMENTS AND MAIN RESULTS: There were 100 reports in the 1-year period, increased from 5 in the previous year. Faculty physicians reported 44% of the events versus 22% by residents, 31% by nurses, and 3% by managers. Eighty-three percent were near misses and 17% were adverse events. Errors involved medication (47%), lab or x-rays (22%), office administration (21%), and communication (10%) processes. Seventy-two interventions were recommended with 75% implemented during the study period. CONCLUSION: This model of clinician-based voluntary reporting, systems analysis, and redesign was effective in increasing error reporting, particularly among physicians, and in promoting system changes to improve care and prevent errors. This process can be a powerful tool for incorporating error reporting and analysis into the culture of medicine

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons. Furthermore, knock down of rigor mortis, the fly homolog of human GEMIN5, leads to developmental defects, motor dysfunction, and a reduced lifespan. Interestingly, we observed that GEMIN5 variants disrupt a distinct set of transcripts and pathways as compared to SMA patient neurons, suggesting different molecular pathomechanisms. These findings collectively provide evidence that pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome