Integration of SCID Screening into the Dutch Newborn Screening Program. Benefits and shortcomings of the available screening assays
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1 Integration of SCID Screening into the Dutch Newborn Screening Program Benefits and shortcomings of the available screening assays
2 SCID screening in USA About half of the states screens half of the newborns 2
3 Meanwhile, on the continent.. 3
4 Pilot SCID screening in Sweden Retrospective study with 2560 freshly collected, anonymized heelprick cards and 18 cards of SCID patients (and other (B-cell-related-) immunodeficiencies) Combined TREC/KREC - in house PCR 4 Borte et al., Blood 2012, 119(11)
5 Dutch Health council on SCID screening Serious health problem Acceptable treatment (gene therapy or hematopoetic stem cell therapy) Suitable test (TREC,KREC or both) Note-unintended findings (e.g. DiGeorge) Note-a cost-effectiveness study is needed Neonatal Screening. New recommendations. Dutch Health Council, The Hague, Netherlands
6 Distribution of SCID patients based on genetic diagnosis ; n=43 Pagter et al., Eur J Pediatrics
7 Fate of Dutch SCID patients Pagter et al., Eur J Pediatrics
8 Aims of Dutch retrospective SCID screening study To get first experience with DNA-analysis in the screening laboratory To get first experience with two (commercially available) TREC (/KREC) assays To evaluate common screening algorithms To get an idea of TREC in samples of premature births To supply data for an extended prospective pilot screening with an analysis of costs 8
9 Samples Anonymized fresh heel prick cards (n=1295) from the Dutch Newborn Screening Filter paper cards with peripheral blood of 22 patients with a clinical, genetically confirmed, SCID diagnosis, (affected genes: ADA n=2, RAG1 n=6, RAG2 n=2, IL2Rg n=4, JAK3 n=2, XLF n=2, Artemis n=2, CD3E n=2) and of 27 patients with a primary immunodeficiency (PID), potentially SCID Reference samples of the Newborn Screening Translational Research Initiative (CDC, Atlanta, Georgia) 9
10 Methods SCREEN-ID kit (TRM Leipzig*) Quantitative analysis of TREC, KREC en β-actin Real-time multiplex PCR EnLite Neonatal TREC kit (PElmer) Semi-quantitative analysis of TREC and β-actine End-point PCR *Currently: Mabtech Diagnostics, Nacka Strand, Sweden 10
11 Results EnLite assay samples of premature births 155 NBS cards of premature births (birth weight below 2500 g and GA 36,0 weeks) Average TREC-values; 65 copies/µl (median: 55) Retest rate = 29% 11
12 Effect of storage time on TREC numbers 12
13 Screening scheme Re-test: 1.62% Second sample: about 0.1%) 13
14 Results PE EnLite assay SCID patients 22 confirmed SCIDpatiënts (average TREC values: 0,47 copies/µl blood) 17 of 27 SCID-inconclusive diagnosis < cut off value of 40 copies/µl blood) 14
15 Results SCREEN-ID assay (KREC/TREC-assay) 15 APHL-NBSGTS, St. Louis
16 What did we learn? Both assays work fine in the hands of experienced and well-trained technicians A basically equipped PCR laboratory is sufficient High troughput KREC analysis seems not feasible at this time (no commercial supply) Screening protocol with cut off of 40 TREC copies/µl blood (re-test rate 1,62 %) may be adapted, with adapted policy for premature newborns 16
17 What next? To supply data for an extended prospective pilot screening with a cost-analysis Project plan for prospective pilot screening How to implement a suitable TREC assay in current Dutch routine screening inclusions Wat are some of the performance characteristics in a real life screening situation What are the implementation costs of SCID screening How to parents and clinical professionals involved experience the implementation of SCID screening in the Netherlands 17
18 Acknowledgements Erasmus University Medical Centre Rotterdam Mirjam van der Burg Ingrid Pico-Knijnenburg Leiden University Medical Centre (LUMC) Robbert Bredius Academic Medical Centre Amsterdam Anita Boelen Marja van Veen-Sijne Nat. Inst. Public Health and the Environment (RIVM) Maartje Blom Maartje Blom (RIVM/LUMC) 18
19 International Journal of Neonatal Screening (ISSN X) The official journal of the International Society for Neonatal Screening (ISNS) Editor-in-Chief Dr. Ralph Fingerhut Swiss Newborn Screening Laboratory, Zurich, Switzerland 19
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