GIM Manuscript 1 for UIC INDIGO system_Michael Petros (1).pdf (166.59 kB)
Download file

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

Download (166.59 kB)
journal contribution
posted on 22.11.2013, 00:00 by Michael Petros
Purpose Advances in technology have made newborn screening (NBS) for more than fifty inborn errors of metabolism possible using a dried blood sample. A framework is proposed that public health practitioners may use when considering candidate disorders for NBS panels. Methods The framework expands upon the ten Wilson-Jungner criteria with the addition of eleven criteria specific to NBS. A calculation, the “pNBS Decision Score”, is used to quantify results and rank candidate disorders. Results The pNBS Decision Scores that were calculated for Phenylketonuria (OMIM 261600), Cystic Fibrosis (OMIM 219700), Pompe Disease (OMIM 232300) and Severe Combined Immunodeficiency (OMIM 102700) support their inclusion as NBS disorders. The pNBS Decision Score suggests that Krabbe Disease (OMIM 245200) is not a candidate disorder for inclusion at this time. Conclusion The proposed framework adds to the ability of policy-makers to quantify an essential portion of the process for adding disorders to newborn screening panels. Other factors such as ethical, legal and social issues, clinical utility and advocacy are also part of the policy process. The framework is not intended to replace existing nomination processes, but rather to enhance those processes by encouraging iterative review of NBS-specific criteria. The use of the framework will provide consistency across a portion of the decision process. The public health community should take the opportunity to re-visit the screening determinants of the Wilson-Jungner criteria from a twenty-first century perspective. The results suggest that this framework provides the public health practitioner with a consistent process for making an evidence-based decision.


Publisher Statement

This is a copy of an article published in the Genetics in Medicine © 2012 Nature Publishing Group. Available at doi: 10.1038/gim.0b013e31823331d0


Nature Publishing Group





Issue date


Usage metrics