Newborn Sequencing in Genomic Medicine and Public Health

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening

The Impact of Interface Design During an Initial High-Technology AAC Experience: A Collective Case Study of People with Aphasia

The purpose of this collective case study was to describe the communication behaviors of five people with chronic aphasia when they retold personal narratives to an unfamiliar communication partner using four variants of a visual scene display (VSD) interface. The results revealed that spoken language comprised roughly 70% of expressive modality units; variable patterns of use for other modalities emerged. Although inconsistent across participants, several people with aphasia experienced no trouble sources during the retells using VSDs with personally relevant photographs and text boxes. Overall, participants perceived the personally relevant photographs and the text as helpful during the retells. These patterns may serve as a springboard for future experimental investigations regarding how interface design influences the communicative and linguistic performance of people with aphasia. Includes supplementary files

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Identifying and assessing the benefits of interventions for postnatal depression: a systematic review of economic evaluations

Abstract Background Economic evaluations of interventions for postnatal depression (PND) are essential to ensure optimal healthcare decision-making. Due to the wide-ranging effects of PND on the mother, baby and whole family, there is a need to include outcomes for all those affected and to include health and non-health outcomes for accurate estimates of cost-effectiveness. This study aimed to identify interventions to prevent or treat PND for which an economic evaluation had been conducted and to evaluate the health and non-health outcomes included. Methods A systematic review was conducted applying a comprehensive search strategy across eight electronic databases and other sources. Full or partial economic evaluations of interventions involving preventive strategies (including screening), and any treatments for women with or at-risk of PND, conducted in OECD countries were included. We excluded epidemiological studies and those focussing on costs only. The included studies underwent a quality appraisal to inform the analysis. Results Seventeen economic evaluations met the inclusion criteria, the majority focused on psychological /psychosocial interventions. The interventions ranged from additional support from health professionals, peer support, to combined screening and treatment strategies. Maternal health outcomes were measured in all studies; however child health outcomes were included in only four of them. Across studies, the maternal health outcomes included were quality-adjusted-life-years gained, improvement in depressive symptoms, PND cases detected or recovered, whereas the child health outcomes included were cognitive functioning, depression, sleep and temperament. Non-health outcomes such as couples’ relationships and parent-infant interaction were rarely included. Other methodological issues such as limitations in the time horizon and perspective(s) adopted were identified, that were likely to result in imprecise estimates of benefits. Conclusions The exclusion of relevant health and non-health outcomes may mean that only a partial assessment of cost-effectiveness is undertaken, leading to sub-optimal resource allocation decisions. Future research should seek ways to expand the evaluative space of economic evaluations and explore approaches to integrate health and non-health outcomes for all individuals affected by this condition. There is a need to ensure that the time horizon adopted in studies is appropriate to allow true estimation of the long-term benefits and costs of PND interventions

California and Oregon NICU Wildfire Disaster Preparedness Tools

The 2020 wildfire season was devastating to the Western United States and affected the region’s NICUs. In this study, we ask the question, “what tools/strategies do medical professionals deem as important and most helpful as they are preparing for wildfire disaster response?” It is a follow up to our previous study: Learning from Wildfire Disaster Experience in California NICUs. We reevaluated how California NICUs dealt with the 2020 wildfires and expanded to Oregon and Southwest (SW) Washington NICUs. We conducted a survey with eleven Oregon and SW Washington NICUs about their wildfire evacuation preparedness. We also interviewed two neonatologists about their wildfire disaster experience evacuating their NICU or preparing to evacuate. Our findings suggest there is more work needed to fully prepare NICUs for wildfire disasters. We hope that by bringing light to the strategies used by affected clinicians, we can educate and support future NICU disaster preparedness responses