Preprint: Long-Term Healthcare Utilization After Genomic Diagnosis in Seriously Ill Children

WHY IT MATTERS

If you have a seriously ill child undergoing genetic testing, this research will help show whether getting a diagnosis actually changes how your child's care is managed and how often you'll need medical visits going forward.

Researchers studied how getting a genetic diagnosis through whole genome sequencing (a test that reads all of a person's genes) affects how much healthcare seriously ill children need over time. They looked at medical records from children in the UK between 2016 and 2020 to see if knowing the genetic cause of their illness changed how often they visited doctors, went to the hospital, or needed other medical care.

Long-Term Healthcare Utilization After Genomic Diagnosis in Seriously Ill Children Authors: Dias, J. M. L. et al. Server: medRxiv Category: pediatrics Abstract: ImportanceWhole genome sequencing (WGS) is increasingly used to diagnose severely ill children, yet the long-term impact of a genetic diagnosis on healthcare utilization and resource allocation remains poorly understood. ObjectiveTo determine the influence of a genetic diagnosis via WGS on long-term healthcare utilization metrics in severely ill children. DesignA retrospective cohort study using data from the Next Generation Children study (2016-2020) with record linkage and analysis of primary care records conducted between 2022 and 2024. SettingA multicenter study involving primary care a