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Enhanced interpretation of newborn screening results without analyte cutoff values.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2012 Jul; Vol. 14 (7), pp. 648-55. Date of Electronic Publication: 2012 Feb 16. - Publication Year :
- 2012
-
Abstract
- Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.<br />Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.<br />Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events.<br />Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.
- Subjects :
- Computational Biology
Data Interpretation, Statistical
Databases, Factual
Diagnosis, Differential
False Positive Reactions
Humans
Infant, Newborn
International Cooperation
Metabolome
Minnesota
Multivariate Analysis
Pattern Recognition, Automated
Predictive Value of Tests
Retrospective Studies
Neonatal Screening methods
Software
Tandem Mass Spectrometry methods
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 14
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 22766634
- Full Text :
- https://doi.org/10.1038/gim.2012.2