As demand for genetic services grows, innovative genetic counseling service delivery models (SDMs) are needed. However, there is limited research on the barriers and needs of genetic counselors (GCs) interested in implementing new SDMs into their practice. In fall 2017, the National Society of Genetic Counselors (NSGC) Access and Service Delivery Committee’s SDM Subcommittee sent an online survey to the NSGC membership regarding the use of SDMs, which aimed to update the understanding of current SDM use and how this has changed over time. The survey included several questions with open-response components assessing the need for new SDMs and barriers to implementation. Inductive thematic analysis was used to identify common themes. Among 517 usable responses (16% response rate), more than half (54.4%) of respondents indicated their current SDM was inadequate to address the patient need in their area. Nearly two-thirds (64.8%) indicated they were in the process of or planning to make changes to their SDM, although 40.6% did not have a specific timeline. Three major themes related to expanding access, reimbursement for services, and lack of support were identified from responses to questions about implementation of additional SDMs. Access included subthemes of geographic and physical location limitations, addressing long wait times, and the need to expand services. Reimbursement for services included issues with billing, genetic counselor licensure, and limitations due to the need for physician involvement in billing. The lack of support was evident with issues related to understaffing; difficulty gaining support at the administrative, institutional, or physician level; time constraints; and funding concerns. This study shows that GCs need education, tools, and resources to overcome barriers in implementing new or adapting current SDMs, and there is a need for policy change, including new billing and coverage models.

Rosacea is a very common, chronic inflammatory disease characterized by flushing, erythema and inflammatory lesions. Increased oxidative stress plays a relevant pathogenetic role in Rosacea. Intracellular Glutathione (GSH) is the main scavenger protective mechanism against increased oxidative stress. An altered GSH metabolism in Rosacea has been described. GSH-C4 is a modified GSH molecule characterized by a better intracellular bioavailability and longer half-life. A daily cream (E-AR) containing GSH-C4 (0.1%) with beta-Glycyrrhetic (0.5%) and azelaic acids (10%), with an SPF of 30, is available.

In a pilot, prospective, two-center, assessor-blinded study we evaluate the efficacy and the tolerability of E-AR cream in subjects with mild to moderate Rosacea treated for 8 weeks.

The main outcomes were the Investigator Global Assessment (IGA) 7-point score (from 0, completely clear; to 6, severe) and the clinical and instrumental erythema severity score (ESS) (from 0 to 4) evaluated in a blinded fashion (ratments.Glioblastoma (GBM) is an incurable brain tumor for which new treatment strategies are urgently needed. Next-generation sequencing of GBM has most often been performed retrospectively and on archival tissue from both diagnostic and relapse surgeries with limited knowledge of clinical information, including treatment given. We sought to investigate the genomic composition prospectively in treatment-naïve patients, searched for possible targetable aberrations, and investigated for prognostic and/or predictive factors. A total of 108 newly diagnosed GBM patients were included. Clinical information, progression-free survival, and overall survival (OS) were noted. Tissues were analyzed by whole-exome sequencing, single nucleotide polymorphism (SNP) and transcriptome arrays, and RNA sequencing; assessed for mutations, fusions, tumor mutational burden (TMB), and chromosomal instability (CI); and classified into GBM subgroups. Each genomic report was discussed at a multidisciplinary tumor board meeting to evaluate for matching trials. From 111 consecutive patients, 97.3% accepted inclusion in this study. Eighty-six (77%) were treated with radiation therapy/temozolomide (TMZ) and adjuvant TMZ. One NTRK2 and three FGFR3-TACC3 fusions were identified. Copy number alterations in GRB2 and SMYD4 were significantly correlated with worse median OS together with known clinical variables like age, performance status, steroid dose, and O6-methyl-guanine-DNA-methyl-transferase status. Patients with CI-median or TMB-high had significantly worse median OS compared to CI-low/high or TMB-low/median. In conclusion, performing genomic profiling at diagnosis enables evaluation of genomic-driven therapy at the first progression. Furthermore, TMB-high or CI-median patients had worse median OS, which can support the possibility of offering experimental treatment already at the first line for this group.The pandemic caused by COVID-19 is affecting populations and healthcare systems worldwide. As we gain experience managing COVID-19, more data become available on disease severity, course, and treatment in patients infected with the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). However, data in pregnancy remain limited. This narrative review of COVID-19 during pregnancy underscores key knowledge gaps in our understanding of the impact of this viral infection on reproductive health. Current data suggest that pregnant people have similar disease course and outcomes compared to nonpregnant people, with the majority experiencing mild disease; however, pregnant people may have increased risk of hospitalization and intensive care unit (ICU) admission. Among patients who develop severe and critical disease, major maternal morbidity and mortality have been described including cardiomyopathy, mechanical ventilation, extracorporeal membrane oxygenation, and death. Many questions remain regarding maternal severity of disease in COVID-19. Further research is needed to better understand disease course in pregnancy. Additionally, the inclusion of pregnant patients in therapeutic trials will provide vital data on treatment options for patients. I-BET151 As we continue to treat more patients affected by SARS-CoV-2, multidisciplinary care and continued research are both needed to achieve optimal outcomes for mother and fetus.