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The Scottish Newborn Screening Laboratory (SNSL) Dr David Aitken Laboratory Director Pregnancy and Newborn Screening Institute of Medical Genetics Yorkhill, Glasgow G3 8SJ David.Aitken@ggc.scot.nhs.uk Slide 2 Newborn Bloodspot screening in Scotland 1965 - National Neonatal Screening Laboratory established in Dept of Bacteriology, Stobhill1965 - National Neonatal Screening Laboratory established in Dept of Bacteriology, Stobhill - Screening for phenylketonuria using the Guthrie Bacterial Inhibition Assay (BIA) 1970 - Screening for Galactosaemia using BIA1970 - Screening for Galactosaemia using BIA 1979 - Screening for Congenital Hypothyroidism using TSH RIA1979 - Screening for Congenital Hypothyroidism using TSH RIA 2001 Lab transferred to Biochemical Genetics Department, Institute of Medical Genetics at Yorkhill2001 Lab transferred to Biochemical Genetics Department, Institute of Medical Genetics at Yorkhill National Specialist Service with top slice funding from National Services DivisionNational Specialist Service with top slice funding from National Services Division 5.3 Laboratory and 3 A&C staff5.3 Laboratory and 3 A&C staff CPA AccreditedCPA Accredited Slide 3 Newborn Bloodspot screening in Scotland Evolution of the neonatal screening service at Yorkhill: 2001 Newborn bloodspot screening2001 Newborn bloodspot screening 2001 - New technology: AutoDelfia immunoassay analyser and automated bloodspot punching system2001 - New technology: AutoDelfia immunoassay analyser and automated bloodspot punching system 2002 - Redesign of Bloodspot card2002 - Redesign of Bloodspot card 2002 TSH I 125 radio-assay replaced with Delfia TSH2002 TSH I 125 radio-assay replaced with Delfia TSH 2002 Screening for Galactosaemia (BIA) abandoned2002 Screening for Galactosaemia (BIA) abandoned 2003 Screening for cystic fibrosis using IRT/DNA/IRT2003 Screening for cystic fibrosis using IRT/DNA/IRT 2003 Introduction of signed consent2003 Introduction of signed consent 2005 Guthrie BIA for Phenylalanine replaced by MSMS2005 Guthrie BIA for Phenylalanine replaced by MSMS 2005 New Laboratory Information Management System2005 New Laboratory Information Management System Slide 4 Redesigned blood spot card Slide 5 Ancestry group coding Slide 6 Semi-automated bloodspot multipuncher Slide 7 Autodelfia immunoassay analyser Slide 8 Quattro Micro Tandem Mass Spectrometer (MSMS) Slide 9 Laboratory Information Management System Patient ID entry Specimen Gate/LifeCycle Slide 10 Laboratory Information Management System Result viewer QC module Slide 11 Storage of bloodspot cards Slide 12 Slide 13 Slide 14 Storage and further use of Bloodspot cards Parents asked to consent to retention of cards beyond 12 month testing periodParents asked to consent to retention of cards beyond 12 month testing period Occasional requests for stored bloodspot to assist with clinical investigation of childOccasional requests for stored bloodspot to assist with clinical investigation of child Extensive use by laboratory for quality control, validation of new methods, etc.Extensive use by laboratory for quality control, validation of new methods, etc. Occasional requests for bloodspots for researchOccasional requests for bloodspots for research Occasional requests from Procurators Fiscal for bloodspot for forensic investigationOccasional requests from Procurators Fiscal for bloodspot for forensic investigation Regulatory framework being put in place to control accessRegulatory framework being put in place to control access Slide 15 SNSL: Consent February 2003 Screening for CF introduced using IRT/DNA/IRT protocolFebruary 2003 Screening for CF introduced using IRT/DNA/IRT protocol Consent form allowing parents to accept or decline any or all testsConsent form allowing parents to accept or decline any or all tests Signed by parent, witnessed and filed in case recordSigned by parent, witnessed and filed in case record If all testing declined blank card with babys details (but no blood) is sent to laboratoryIf all testing declined blank card with babys details (but no blood) is sent to laboratory If partial decline, midwife records e.g. no CF on cardIf partial decline, midwife records e.g. no CF on card Laboratory notifies Child Health Dept and GPLaboratory notifies Child Health Dept and GP Parents given fact sheet and offered opportunity to change their mindParents given fact sheet and offered opportunity to change their mind Slide 16 SNSL workload YearBirthsInsufficientParental specimensDeclines specimensDeclines 1965100,660 1970 87,335 1980 68,892 1990 65,973 0.51% 2000 53,076 0.42%15 (0.028%) 2001 52,527 0.82%20 (0.038%) 2002 51,270 1.14%18 (0.035%) 2003 52,432 1.39%56 (0.117%) 2004 53,957 0.93%42 (0.077%) 2005 54,386 0.98%44 (0.081%) 2006 55,690 0.55% 22 (0.040%) 2007 57,781 0.59%20 (0.035%) 2008 60,000 Slide 17 Referrals of presumptive positive cases, 2002/03-2008/09 Yr: 02/03 03/04 04/05 0506 06/07 07/08 08/09 PKU 6 8 9 10 12 15 9 CHT 35 31 31 25 38 29 31 CF 5 26 30 29 34 30 34 Total: 46 65 70 64 84 74 74 Slide 18 SNSL: Screening for Sickle Cell Disorder Newborn Screening Implementation issues (1) Information leaflet for parentsInformation leaflet for parents Training for Midwives and Laboratory staffTraining for Midwives and Laboratory staff Scottish newborn population: 12% non-A (British/Irish) ancestryScottish newborn population: 12% non-A (British/Irish) ancestry Bloodspot card: Modified Ancestry Classification in line with FOQBloodspot card: Modified Ancestry Classification in line with FOQ Standards turn around time etc.Standards turn around time etc. Linkage with antenatal haemoglobinopathy screeningLinkage with antenatal haemoglobinopathy screening Slide 19 SNSL: Screening for Sickle Cell Disorder Newborn Screening Implementation issues (2) Analytical:Analytical: Universal screening on bloodspots taken at 5 - 8 days of age EQA Primary screen by HPLC (BioRad Variant NBS System) Confirmatory testing: Isoelectric focusing (PE Resolve Hb assay) Referrals:Referrals: (1) SS, S/C, S/ -thal, S/D Punjab, S/O Arab, S/HPFH (2) -thal major, -thal intermedia, Hb H disease, E/ -thal, S/E (3) ?? C/ -thal, D/ -thal, DD, CC, CD, CE, DE, EE (4) ?? Sickle Cell traits Slide 20 Slide 21 Autodelfia immunoassay analyser Slide 22 Newborn Screening in the UK Conditions screened for in the UK are determined by the National Screening Committee Phenylketonuria (PKU)(Scotland: 1965)Phenylketonuria (PKU)(Scotland: 1965) Congenital Hypothyroidism (CHT)(Scotland: 1979)Congenital Hypothyroidism (CHT)(Scotland: 1979) Cystic Fibrosis (CF)(Scotland: 2003)Cystic Fibrosis (CF)(Scotland: 2003) Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)(Scotland: 2010)Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)(Scotland: 2010) Sickle Cell Disorder (SCD)(Scotland: 2010)Sickle Cell Disorder (SCD)(Scotland: 2010) New technology (MSMS) opens up the possibility for the further expansion of the screening programmeNew technology (MSMS) opens up the possibility for the further expansion of the screening programme Slide 23