Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy.

Recent improvements in cell-free DNA technology have enabled non-invasive prenatal testing (NIPT) to screen for fetal single-gene autosomal recessive conditions from maternal blood as early as the first trimester. This technique can determine the fetal risk for cystic fibrosis (CF) with a single blood sample from a pregnant person without the need for a partner sample, which is required for traditional carrier screening. A retrospective review of 100,106 consecutive general-risk pregnant patients who underwent CF carrier screening was completed.

Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

Background: The cumulative economic burden of rare diseases surpasses that of common conditions, yet patterns of healthcare resource utilization (HRU) across rare diseases remain poorly characterized. This study leverages multimodal data collected during clinical care and through surveys to provide an in-depth evaluation of HRU across the disease journey of individuals with rare genetic diseases. Individuals with a confirmed diagnosis of Kleefstra syndrome (KS; n = 40) or SLC6A1 epileptic encephalopathy (SLC6A1; n = 30) were recruited.

Assessing the impact of novel social media policies in the USA restricting youth exposure to food and beverage advertisements: a protocol for a difference-in-difference study.

Introduction: Social media is the most prominent source of online food and beverage advertisements (ads) seen by adolescents. Companies target adolescent social media users with ads that feature calorie-dense, nutrient-poor products, and exposure to ads drives poor diet and risk for future diet-related diseases. Black, Hispanic and lower socio-economic status youth are exposed to significantly more ads than White peers.

Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System.

Background: Genetic disorders are a leading contributor to morbidity and mortality in neonatal and pediatric intensive care units. Rapid whole-genome sequencing (rWGS) has demonstrated improved clinical outcomes and reduced costs of care. The objective of this study was to predict the effect of rWGS on healthcare spending if implemented as a first-line diagnostic test in the Blue Shield of California (BSC) private payer system.

Multi-cancer early detection tests: Attributes for clinical implementation.

Guideline-recommended screening programs exist for only a few single-cancer types, and these cancers represent less than one-half of all new cancer cases diagnosed each year in the U.S. In addition, these "single-cancer" standard of care (SoC) screening tests vary in accuracy, adherence, and effectiveness, though all are generally understood to lead to reductions in cancer-related mortality.