Making the case for objective performance metrics in newborn screening by tandem mass spectrometry

Piero Rinaldo, Saba Zafari, Silvia Tortorelli, Dietrich Matern

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the overall performance metrics of the Minnesota program, limited to MS/MS testing, were as follows: detection rate 1:1,816, positive predictive value 37% (54% in 2006 till date), and false positive rate 0.09%. The repeat rate and the proportion of cases with abnormal findings actually been reported are new metrics proposed here as an objective mean to express the overall noise in a program, where noise is defined as the total number of abnormal results obtained using a given set of cut-off values. On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value >20%, and false positive rate <0.3%.

Original languageEnglish (US)
Pages (from-to)255-261
Number of pages7
JournalMental Retardation and Developmental Disabilities Research Reviews
Volume12
Issue number4
DOIs
StatePublished - 2006

Fingerprint

Tandem Mass Spectrometry
Noise

Keywords

  • Detection rate
  • False positive rate
  • Positive predictive value
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology

Cite this

Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. / Rinaldo, Piero; Zafari, Saba; Tortorelli, Silvia; Matern, Dietrich.

In: Mental Retardation and Developmental Disabilities Research Reviews, Vol. 12, No. 4, 2006, p. 255-261.

Research output: Contribution to journalArticle

Rinaldo, Piero ; Zafari, Saba ; Tortorelli, Silvia ; Matern, Dietrich. / Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. In: Mental Retardation and Developmental Disabilities Research Reviews. 2006 ; Vol. 12, No. 4. pp. 255-261.
@article{a1fc17c63cbd49468a472eff427e501a,
title = "Making the case for objective performance metrics in newborn screening by tandem mass spectrometry",
abstract = "The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the overall performance metrics of the Minnesota program, limited to MS/MS testing, were as follows: detection rate 1:1,816, positive predictive value 37{\%} (54{\%} in 2006 till date), and false positive rate 0.09{\%}. The repeat rate and the proportion of cases with abnormal findings actually been reported are new metrics proposed here as an objective mean to express the overall noise in a program, where noise is defined as the total number of abnormal results obtained using a given set of cut-off values. On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value >20{\%}, and false positive rate <0.3{\%}.",
keywords = "Detection rate, False positive rate, Positive predictive value, Tandem mass spectrometry",
author = "Piero Rinaldo and Saba Zafari and Silvia Tortorelli and Dietrich Matern",
year = "2006",
doi = "10.1002/mrdd.20130",
language = "English (US)",
volume = "12",
pages = "255--261",
journal = "Mental Retardation and Developmental Disabilities Research Reviews",
issn = "1080-4013",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Making the case for objective performance metrics in newborn screening by tandem mass spectrometry

AU - Rinaldo, Piero

AU - Zafari, Saba

AU - Tortorelli, Silvia

AU - Matern, Dietrich

PY - 2006

Y1 - 2006

N2 - The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the overall performance metrics of the Minnesota program, limited to MS/MS testing, were as follows: detection rate 1:1,816, positive predictive value 37% (54% in 2006 till date), and false positive rate 0.09%. The repeat rate and the proportion of cases with abnormal findings actually been reported are new metrics proposed here as an objective mean to express the overall noise in a program, where noise is defined as the total number of abnormal results obtained using a given set of cut-off values. On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value >20%, and false positive rate <0.3%.

AB - The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the overall performance metrics of the Minnesota program, limited to MS/MS testing, were as follows: detection rate 1:1,816, positive predictive value 37% (54% in 2006 till date), and false positive rate 0.09%. The repeat rate and the proportion of cases with abnormal findings actually been reported are new metrics proposed here as an objective mean to express the overall noise in a program, where noise is defined as the total number of abnormal results obtained using a given set of cut-off values. On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value >20%, and false positive rate <0.3%.

KW - Detection rate

KW - False positive rate

KW - Positive predictive value

KW - Tandem mass spectrometry

UR - http://www.scopus.com/inward/record.url?scp=33845972665&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33845972665&partnerID=8YFLogxK

U2 - 10.1002/mrdd.20130

DO - 10.1002/mrdd.20130

M3 - Article

C2 - 17183573

AN - SCOPUS:33845972665

VL - 12

SP - 255

EP - 261

JO - Mental Retardation and Developmental Disabilities Research Reviews

JF - Mental Retardation and Developmental Disabilities Research Reviews

SN - 1080-4013

IS - 4

ER -