Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging

Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and the associated increase in costs. The objectives of this study are twofold: (1) determine whether there is a difference in healthcare utilization and costs following disclosure of a pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via a genomic screening program, and (2) measure the post-disclosure uptake of National Comprehensive Cancer Network (NCCN) guideline-recommended risk management. We retrospectively reviewed electronic health record (EHR) and billing data from a female population of BRCA1/2 P/LP variant carriers without a personal history of breast or ovarian cancer enrolled in Geisinger’s MyCode genomic screening program with at least a one-year post-disclosure observation period. We identified 59 women for the study cohort out of 50,726 MyCode participants. We found no statistically significant differences in inpatient and outpatient utilization and average total costs between one-year pre- and one-year post-disclosure periods ($18,821 vs.$19,359, p = 0.76). During the first year post-disclosure, 49.2% of women had a genetic counseling visit, 45.8% had a mammography and 32.2% had an MRI. The uptake of mastectomy and oophorectomy was 3.5% and 11.8%, respectively, and 5% of patients received chemoprevention

Cannula and circuit management in peripheral extracorporeal membrane oxygenation: An international survey of 45 countries

Effective and safe practices during extracorporeal membrane oxygenation (ECMO) including infection precautions and securement of lines (cannulas and circuits) are critical to prevent life-threatening patient complications, yet little is known about the practices of bedside clinicians and data to support best practice is lacking. Therefore, the aim of this study was to identify and describe common line-related practices for patients supported by peripheral ECMO worldwide and to highlight any gaps for further investigation. An electronic survey was conducted to examine common line practices for patients managed on peripheral ECMO. Responses were obtained from 45 countries with the majority from the United States (n = 181) and United Kingdom (n = 32). Standardised infection precautions including hand hygiene, maximal barrier precautions and skin antisepsis were commonplace for cannulation. The most common antisepsis strategies included alcohol-based chlorhexidine gluconate (CHG) for cannula insertion (53%) and maintenance (54%), isopropyl alcohol on circuit access ports (39%), and CHG-impregnated dressings to cover insertion sites (36%). Adverse patient events due to line malposition or dislodgement were reported by 34% of respondents with most attributable to ineffective securement. Centres 'always' suturing peripheral cannula sites were more likely to experience a cannula adverse event than centres that 'never' sutured (35% [95% CI 30, 41] vs 0% [95% CI 0, 28]; Chi-square 4.40; p = 0.04) but this did not meet the a priori significance level o