The utility of limited Spanish proficiency in interpreted genetic counseling sessions.

Professional interpreters are an integral component of healthcare for Spanish-speaking individuals with limited English proficiency (LEP). Research has demonstrated that errors in interpretation are common and can contribute to poor outcomes for Spanish-speaking clients. Providers with some Spanish proficiency may be able to detect clinically significant interpretation errors, potentially limiting negative clinical outcomes and helping to reduce health disparities for clients with LEP. This study aimed to identify the level of Spanish proficiency necessary for genetic counselors to be able to detect a majority of clinically significant errors made by a professional interpreter during a reproductive genetic counseling session. Practicing genetic counselors and genetic counseling graduate students were surveyed regarding their Spanish language background, experience working with interpreters, and self-rated Spanish proficiency. Participants then watched short video clips from three simulated reproductive genetic counseling sessions conducted with a professional interpreter and were tasked with identifying clinically significant interpretation errors. Survey responses were analyzed from 118 participants who met eligibility criteria. Participants who reported "basic" and "fair" Spanish proficiency detected an average of 36.5% and 67% of clinically significant errors, respectively. Those reporting "good" proficiency or higher detected more than 80% of errors. Overall self-rated Spanish proficiency was positively correlated with years of Spanish language education and individual measures of speaking, listening, and reading proficiency, indicating that self-report may be a reasonable measure of proficiency when the goal is error detection in an interpreted session. Genetic counselors with even minimal Spanish proficiency can detect clinically significant interpretation errors, allowing for the correction of these errors during the session. Genetic counselors with "basic" and "fair" may consider genetic counseling-specific Spanish language classes to increase their proficiency to be able to detect a majority of interpretation errors and thereby improve the quality of care and reduce health disparities for Spanish-speaking clients.

C/EBPß regulates the M2 transcriptome in ß-adrenergic-stimulated macrophages.

At the M2 terminal of the macrophage activation spectrum, expression of genes is regulated by transcription factors that include STAT6, CREB, and C/EBPß. Signaling through ß-adrenergic receptors drives M2 activation of macrophages, but little is known about the transcription factors involved. In the present study, we found that C/EBPß regulates the signaling pathway between ß-adrenergic stimulation and expression of Arg1 and several other specific genes in the greater M2 transcriptome. ß-adrenergic signaling induced Cebpb gene expression relatively early with a peak at 1 h post-stimulation, followed by peak Arg1 gene expression at 8 h. C/EBPß transcription factor activity was elevated at the enhancer region for Arg 1 at both 4 and 8 h after stimulation but not near the more proximal promoter region. Knockdown of Cebpb suppressed the ß-adrenergic-induced peak in Cebpb gene expression as well as subsequent accumulation of C/EBPß protein in the nucleus, which resulted in suppression of ß-adrenergic-induced Arg1 gene expression. Analysis of genome-wide transcriptional profiles identified 20 additional M2 genes that followed the same pattern of regulation by ß-adrenergic- and C/EBPß-signaling. Promoter-based bioinformatic analysis confirmed enrichment of binding motifs for C/EBPß transcription factor across these M2 genes. These findings pinpoint a mechanism that may be targeted to redirect the deleterious influence of ß-adrenergic signaling on macrophage involvement in M2-related diseases such as cancer.

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.

X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe cerebral demyelination. Females who are heterozygous for ALD typically develop milder symptoms by late adulthood. Treatment for adrenal insufficiency associated with ALD exists in the form of cortisol, and cerebral ALD may be treated with stem cell transplantation. Currently, there is no treatment for myelopathy. Since 2013, at least 14 states have added ALD to their newborn screening (NBS) panel, including California in 2016. We examined the impact of a positive NBS result for ALD on families in California. Qualitative interviews were conducted with mothers of 10 children who were identified via NBS for ALD. Interviews were transcribed verbatim and analyzed using thematic analysis by two coders. Mothers felt strongly that ALD should be included on California's NBS panel; however, many expressed concerns over their experience. Themes included stress at initial phone call, difficulty living with uncertainty, concerns regarding mental health support, and desire for more information on disease progression, treatments and clinical trials. Mothers exhibited diverse coping strategies, including relying on faith, information seeking, and maintaining hope. Mothers' recommendations for healthcare providers included: educating providers making the initial phone call, providing patient-friendly resources, offering information about ongoing research, and streamlining care coordination. Advice for parents of children with ALD focused on staying hopeful and appreciating the time they have with their children. As more states add ALD to their NBS panel, it is important to improve the current model to promote family resiliency and autonomy.