Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children’s hospital from July 2016–March 2017. Forty-two families received rWGS for etiologic diagnosis of genetic disorders. Probands also received standard genetic testing as clinically indicated. Primary end-points were rate of diagnosis, clinical utility, and healthcare utilization. The latter was modelled in six infants by comparing actual utilization with matched historical controls and/or counterfactual utilization had rWGS been performed at different time points. The diagnostic sensitivity of rWGS was 43% (eighteen of 42 infants) and 10% (four of 42 infants) for standard genetic tests (P = .0005). The rate of clinical utility of rWGS (31%, thirteen of 42 infants) was significantly greater than for standard genetic tests (2%, one of 42; P = .0015). Eleven (26%) infants with diagnostic rWGS avoided morbidity, one had a 43% reduction in likelihood of mortality, and one started palliative care. In six of the eleven infants, the changes in management reduced inpatient cost by $800,000–$2,000,000. These findings replicate a prior study of the clinical utility of rWGS in acutely ill inpatient infants, and demonstrate improved outcomes and net healthcare savings. rWGS merits consideration as a first tier test in this setting.
The Affordable Care Act enables young adults to remain as dependents on their parents' health insurance until age twenty-six, and recent evidence suggests that as many as three million young adults have gained coverage as a result. However, there has been no evidence yet on the policy's effect on access to care, and questions remain about the coverage impact on important subgroups. Using data from two nationally representative surveys, comparing young adults who gained access to dependent coverage to a control group (adults ages 26-34) who were not affected by the new policy, we found sizable coverage gains for adults ages 19-25. The gains continued to grow throughout 2011 (up 6.7 percentage points from September 2010 to September 2011), with the largest gains seen in unmarried adults, nonstudents, and men. Analysis of the timing of the policy impact suggested that early gains in coverage were greatest for people in worse health. We found strong evidence of increased access to care because of the law, with significant reductions in the number of young adults who delayed getting care and in those who did not receive needed care because of cost.
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