Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance
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1 Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance T Henry 1, C Wolf 2, M McCann 2, and S Berberich 1 1 Iowa Newborn Screening Program 2 Minnesota Newborn Screening Program APHL Newborn Screening and Genetic Testing Symposium New Orleans, LA September 11,
2 Median Normalization Inherent variability in screening programs/labs (ethnicity, reagents, instruments, etc) makes it difficult to compare data across laboratories to improve screen performance 2
3 Median Normalization Maternal/Prenatal Screening has successfully utilized median normalization, Multiples of the Median (MoM), to standardize analyte data among testing laboratories Median normalization: May provide a method for standardization of NBS data May provide a means to apply a uniform cut-off 3
4 Project Overview Collaborative effort between the Minnesota and Iowa Newborn Screening Programs Analyte data before and after median normalization was compared for each state program Specimens ordered by date and time received by the laboratory Median for each analyte was calculated using a 3000 specimen window; raw analyte value divided by median Minnesota dataset 7 months of data (Jan to Jul 2016) total n: 42,176 Iowa dataset 12 months of data (Jan to Dec 2016) total n: 38,888 4
5 Pilot Study Disorders/Analytes 1. Severe Combined Immunodeficiency (SCID)/ T-cell Receptor Excision Circles (TREC) 2. Congenital Hypothyroidism (CH)/ Thyroid Stimulating Hormone (TSH) 3. Cystic Fibrosis (CF)/ Immunoreactive Trypsinogen (IRT) 5
6 SCID/TREC Severe Combined Immunodeficiency/T-cell Receptor Excision Circles MN: DNA extraction assay, 384 well format, ViiA7 real time PCR instrument MN cut-off: and TREC Cq MoM (daily median) IA logistics in situ assay, 96 well format, ViiA7 real time PCR instrument IA cut-off: 1.100, 1.132, and TREC Cq MoM (population median) Data analysis Exclude GA < 34 wks, < 2000g birthweight, < 24 hrs collection postdelivery 6
7 SCID/TREC 7
8 SCID/TREC 8
9 SCID/TREC Statistical analysis of TREC Cq values: Column B vs. Column A TREC Cq IA TREC Cq vs. MN TREC Cq Column D vs. Column C TREC Cq MoM IA TREC Cq MoM vs. MN TREC Cq MoM Mann Whitney test P value < Exact or approximate P value? Approximate P value summary **** Significantly different (P < 0.05)? Yes One- or two-tailed P value? Two-tailed Sum of ranks in column A,B , Mann-Whitney U Mann Whitney test P value Exact or approximate P value? Approximate P value summary ns Significantly different (P < 0.05)? No One- or two-tailed P value? Two-tailed Sum of ranks in column C,D , Mann-Whitney U Difference between medians Median of column A 30.14, n=38953 Median of column B 30.76, n=37540 Difference: Actual Difference between medians Median of column C 0.999, n=38953 Median of column D , n= Difference: Actual
10 CH/TSH Congenital Hypothyroidism/Thyroid Stimulating Hormone Minnesota Perkin Elmer GSP instrument Age at time of collection cut-offs Iowa Perkin Elmer AutoDELFIA instrument Single fixed cut-off Data analysis Exclude GA < 34 wks, < 2000g birthweight, < 24 hrs collection postdelivery 10
11 CH/TSH Frequency distribution for raw TSH analyte values: 11
12 CH/TSH Frequency distribution for median normalized TSH analyte values: 12
13 CH/TSH Statistical analysis of TSH values: TSH raw TSH MoM Column B vs. Column A IA TSH raw vs. MN TSH raw Column D vs. Column C IA TSH MoM vs. MN TSH MoM Mann Whitney test P value < Exact or approximate P value? Approximate P value summary **** Significantly different (P < 0.05)? Yes One- or two-tailed P value? Two-tailed Sum of ranks in column A,B , Mann-Whitney U Mann Whitney test P value Exact or approximate P value? Approximate P value summary ns Significantly different (P < 0.05)? No One- or two-tailed P value? Two-tailed Sum of ranks in column C,D , Mann-Whitney U Difference between medians Median of column A 9.2, n=38953 Median of column B 10.3, n=37540 Difference: Actual 1.1 Difference between medians Median of column C 1, n=38953 Median of column D 1, n=37540 Difference: Actual 0 13
14 CH/TSH Comparative TSH presumptive positive rates: Age at collect TSH BORD TSH PP 0 to 26 hrs 30 to 49.9 uiu/ml >/= 50 uiu/ml MN 51 (0.13 %) 15 (0.04 %) IA 166 (0.42 %) 16 (0.04%) 27 to 48 hrs 25 to 49.9 uiu/ml >/= 50 uiu/ml MN 58 (0.15 %) 9 (0.02 %) IA 98 (0.26 %) 7 (0.02 %) 49 to 168 hrs 18 to 49.9 uiu/ml >/= 50 uiu/ml MN 2 (0.005 %) 0 (0.00 %) IA 7 (0.02 %) 1 (0.01 %) > 168 hrs NA >/= 10 uiu/ml MN NA 11 (0.03 %) IA NA 3 (0.01 %) 14
15 CH/TSH Comparative TSH MoM presumptive positive rates: Age at collect TSH BORD TSH PP 0 to 26 hrs >/= 3.00 MoM (~30 uiu/ml) >/= 5.00 MoM ( ~50 uiu/ml) MN 115 (0.30 %) 18 (0.05 %) IA 131 (0.33 %) 14 (0.04 %) 27 to 48 hrs >/= 2.50 MoM (~25 uiu/ml) >/= 5.00 MoM ( ~50 uiu/ml) MN 119 (0.31 %) 9 (0.02 %) IA 88 (0.22 %) 6 (0.02 %) 49 to 168 hrs >/= 2.00 MoM (~20 uiu/ml) >/= 5.00 MoM ( ~50 uiu/ml) MN 2 (0.01 %) 0 (0.00 %) IA 6 (0.02 %) 3 (0.01 %) > 168 hrs NA >/= 1.00 MoM (~10 uiu/ml) MN NA 14 (0.04 %) IA NA 3 (0.01 %) 15
16 CF/IRT Cystic Fibrosis/Immunoreactive Trypsinogen Minnesota Perkin Elmer GSP Fixed and floating cut-offs Iowa Perkin Elmer AutoDELFIA Fixed cut-off Data analysis Exclude < 34 weeks GA, < 2000 grams, and < 24 hours age at collection 16
17 CF/IRT Frequency distribution for raw IRT values: 17
18 CF/IRT Frequency distribution for median normalized IRT values: 18
19 CF/IRT Statistical analysis of IRT values: IRT raw IRT MoM Column B vs. Column A IA raw IRT vs. MN raw IRT Column D vs. Column C IA IRT MoM vs. MN IRT MoM Mann Whitney test P value < Exact or approximate P value? Approximate P value summary **** Significantly different (P < 0.05)? Yes One- or two-tailed P value? Two-tailed Sum of ranks in column A,B , Mann-Whitney U Mann Whitney test P value Exact or approximate P value? Approximate P value summary ns Significantly different (P < 0.05)? No One- or two-tailed P value? Two-tailed Sum of ranks in column C,D , Mann-Whitney U Difference between medians Median of column A 21.3, n=39189 Median of column B 22, n=38887 Difference: Actual 0.7 Difference between medians Median of column C 1, n=39189 Median of column D 1, n=38887 Difference: Actual 0 19
20 CF/IRT Comparative IRT presumptive positive rates: state IRT >/= 55.0 ng/ml total n % MN IA state IRT >/= 65.0 ng/ml total n % MN IA state IRT >/= 75.0 ng/ml total n % MN IA
21 CF/IRT Comparative IRT MoM presumptive positive rates: state IRT MoM >/=2.50 (approx. 55 ng/ml) total n % MN IA state IRT MoM >/=3.00 (approx. 66 ng/ml) total n % MN IA state IRT MoM >/=3.50 (approx. 77 ng/ml) total n % MN IA
22 Summary Prior to median normalization, statistically significant differences in raw analyte values were observed between the MN and IA NBS labs Following median normalization, no significant differences were observed Following median normalization, borderline and presumptive positive rates were similar for the MN and IA labs for disorders analyzed 22
23 Conclusions Median normalization: 1. may provide a method to compare data across labs (regardless of instrumentation, reagents, etc) 2. may provide a method to analyze data using a uniform cutoff 3. may provide a method to aggregate data for rare disorders Aggregation of data may provide improved screen performance through better characterization of affected versus unaffected populations 23
24 Future Directions Much more to be done Analysis of data from more disorders Inclusion of corrections for demographic variables with known impact to screen performance example: age at time of specimen collection for TSH 24
25 Acknowledgements Minnesota Department of Health Iowa Department of Public Health 25
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