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

Genet Med. 2012 Jan;14(1):129-34. doi: 10.1038/gim.0b013e31823331d0. Epub 2011 Oct 7.


Purpose: Advances in technology have made newborn screening for more than 50 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 newborn screening panels.

Methods: The framework expands on the 10 Wilson-Jungner criteria with the addition of 11 criteria specific to newborn screening. 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 newborn screening 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 newborn screening-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 revisit the screening determinants of the Wilson-Jungner criteria from a 21st century perspective. The results suggest that this framework provides the public health practitioner with a consistent process for making an evidence-based decision.

MeSH terms

  • Genetic Diseases, Inborn / diagnosis
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / standards*
  • Humans
  • Infant, Newborn
  • Neonatal Screening / legislation & jurisprudence
  • Neonatal Screening / standards*
  • Public Health / legislation & jurisprudence
  • Public Health / standards*