Ideally, detection of genetic disorders should occur
very early in life, in a presymptomatic, well individual,
before the metabolic error could disrupt mental or
physical health and growth. The criteria for inclusion
of a test/disorder into a newborn screening program
continue to evolve. Currently the disorders included in
most newborn screening programs essentially meet
the following criteria:
1. have a significant incidence in the population screened,
2. are clinically well defined with the untreated natural history characterized,
3. have a well-defined biochemical phenotype,
4. cause significant morbidity and/or mortality,
5. are treatable, where treatment improves outcome,
6. testing is safe, simple and sufficiently sensitive.
7. specific confirmatory testing is available
8. testing, treatment and treatment outcome are cost effective with respect to non-treatment.
source.http://www.ub.edu.ar/centros_de_estudio/ceegmd/documentos/Jones_P_02a.pdf