Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

摘要: Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded screening, which tests hundreds to thousands of mutations simultaneously, requires an objective, systematic means describing given disease's build screening panels. We hypothesized diseases with characteristics deemed be highest impact would likewise rated as most severe, and lower less severe. describe pilot test this hypothesis in we surveyed 192 health care professionals determine the specific phenotypic on perceived severity, asked same group rate selected inherited diseases. The results support hypothesis: identified four “Tiers” (1–4). Based these responses, developed algorithm that, based combination normally seen affected individual, classifies Profound, Severe, Moderate, or Mild. This allows simple classification replicable not labor intensive.