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Quality Assurance Program for Cystic Fibrosis Newborn Screening

Quality Assurance Program for Cystic Fibrosis Newborn Screening. Marie C. Earley, Ph.D. Research Microbiologist APHL Training Course June 29, 2011. National Center for Environmental Health. Newborn Screening Quality Assurance Program.

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Quality Assurance Program for Cystic Fibrosis Newborn Screening

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  1. Quality Assurance Program for Cystic Fibrosis Newborn Screening Marie C. Earley, Ph.D. Research Microbiologist APHL Training Course June 29, 2011 National Center for Environmental Health Newborn Screening Quality Assurance Program

  2. NSQAP has been mandated by Congress to provide QA materials for NBS Laboratories NSQAP shall provide for: • Quality assurance for laboratories involved in screening newborns and children for heritable disorders • Quality assurance for newborn-screening tests • Performance evaluation services • Technical assistance and technology transfer to newborn screening laboratories • Assistance to ensure analytic validity and utility of screening tests • Appropriate quality control and other performance test materials to evaluate the performance of new screening tools Newborn Screening Saves Lives Act of 2008

  3. The Newborn Screening Quality Assurance Program The only comprehensive quality assurance program using the dried-blood spots

  4. CF Mutation Detection Proficiency Testing Program

  5. Began as a collaborative effort between CDC and 3 CF Centers Specimens drawn from adult or adolescent CF patients and are NOT enriched with IRT (No IRT testing done). Began quarterly shipments in February 2007 Program has grown from 25 to 60 laboratories Repository contains all of the ACMG recommended mutations and additional rare mutations CF Mutation Detection Pilot Proficiency Testing Program

  6. Luminex Diagnostics (Luminex Platform) Hologic Invader Assay (Invader) InnogeneticsInno-Lipa (Hybridization) Abbott Diagnostics Oligonucleotide Ligation Assay Roche Diagnostics Linear Array (Hybridization)* Genprobe Diagnostics Elucigene (4 different kits, ARMS) MALDI-TOF mass spectrometry In-house (TaqMan, SNP, hydolysis probe, Lightcycler) Home brew Amplification/gel electrophoresis Amplification/Heteroduplex/restriction analysis Sequencing Many Different Methods

  7. Proficiency testing results summary

  8. Quality Control Materials

  9. Making CF QC Materials for Molecular Methods

  10. Laboratory-Created Molecular QC Materials CFTR Mutation Analysis • QA materials created from transformed cell lines • Six pools from an individual cell line were evaluated in-house • Six pools evaluated externally by CF Mutation Detection PT Program participants • Concentration of cells has been set • Five more pools using cell lines with different mutations have been prepared • Future materials will include additional CFTR mutations using the optimized protocol • This protocol will be expanded to future disorders as needed

  11. Cystic Fibrosis Quality Control Materials • First set of specimens sent as educational specimens (no grading of results) • All were made with an F508del carrier cell line • 96% response rate • Most labs could pick up , a few couldn’t and it was a small subset of the entire group • Continue with evaluations before sending out as pilot QC materials • We are working towards having the ACMG panel covered by the end of 2011 • We will continue to find a way to have cell lines for other mutations commonly found in commercial kits

  12. Other projects

  13. Hemoglobinopathies Proficiency Testing • Ongoing collaboration with Ghana to establish a mutually beneficial program to expand NBS proficiency testing for hemoglobinopathies • CDC will characterize the specimens and include them as PT specimens • Why Ghana? • Ghana has one of the highest incidences of sickle cell disease worldwide

  14. Characterization of Hemoglobinopathy DBS • After specimens are received and logged, each specimen will be tested by: • Microsatellite repeats to test for contamination • Isoelectric focusing • High Performance Liquid Chromatography • Sequencing of HBB1, HBA1, and HBA2 genes • Deletion analysis, if necessary • Mass spectrometry • Complete characterization will provide assurance that the variants are known and will provide data for comparing the different methods used for analysis

  15. Conclusions • NSQAP is working to develop and sustain PT programs for molecular assays used in NBS • The CF Mutation Detection Program has been a success and NBS labs have shown that they can successfully perform molecular assays • Pilot QC materials for CF molecular assays look promising and we are moving forward with plans to expand the number of mutations available for QC • We are moving forward to increase the variety of hemoglobinopathy specimens

  16. Acknowledgements Case Western Reserve University Dr. Michael Konstan Kate Hilliard The Johns Hopkins Hospital Dr. Peter Mogayzel All of our CF donors and NBS PT participants Centers for Disease Control and Prevention Newborn Screening and Molecular Biology Branch University of Wisconsin Dr. Phil Farrell Anita Laxova

  17. Acknowledgements • Newborn Screening & Molecular Biology Branch • Dana Chafin • Suzanne Cordovado, PhD • Miyono Hendrix • Sean Mochal • Joanne Mei, PhD • Carla Cuthbert, PhD • NSQAP Administration Team National Center of Environmental Health Newborn Screening Quality Assurance Program

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