Key Questions Considered by the Committee

The nomination package answers key questions about the nominated condition, the screening process, and treatment. The Committee considers each of these questions during review:

  1. Condition Seriousness. Is the nominated condition medically serious?
  2. Case Definition. Are the condition’s case definition and spectrum well described? Can they predict the phenotype or range of symptoms in newborns and children who will be identified through population-based screening?
  3. Analytic Validity. Is the condition’s screening process valid and reasonable for the newborn screening system? Is it sensitive enough to not miss any newborns who have the condition (i.e., have a low rate of false-positives)?
  4. Clinical Utility. Is the screening process clinically useful? Is it specific enough to find babies who have the condition, especially those most likely to benefit from treatment (especially if treatment is involved or risky)?
  5. Treatments. Are treatment protocols well-defined? Are U.S. Food and Drug Administration-approved drugs (if applicable) and treatments available?
  6. Prospective Pilot Data. Are there data about how well population-based screening works to find newborns with the condition?
Date Last Reviewed:  January 2022