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Invited Review Articles

Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies

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Pages 29-48 | Received 05 Feb 2020, Accepted 09 Jun 2020, Published online: 21 Jul 2020

References

  • Guthrie R. Blood screening for phenylketonuria. JAMA. 1961;178(8):863–863.
  • Jansen ME, Metternick-Jones SC, Lister KJ. International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents. Eur J Hum Genet. 2016;25(1):10–16.
  • Forman J, Coyle F, Levy-Fisch J, et al. Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. J Community Genet. 2013;4(1):59–67.
  • Centers for Disease Control and Prevention (CDC). Ten great public health achievements-United States, 2001–2010. MMWR Morb Mortal Wkly Rep. 2011;60:619–623.
  • Arnold GL. Inborn errors of metabolism in the 21st century: past to present. Ann Transl Med. 2018;6(24):467–467.
  • Andermann A, Blancquaert I, Beauchamp S, et al. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86(4):317–319.
  • Guthrie R, Susi A. A simple phenylalanine method for detecting Phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32:338–343.
  • Guthrie R. The origin of newborn screening. Screening. 1992;1(1):5–15.
  • Wilcken B, Wiley V. Fifty years of newborn screening. J Paediatr Child Health. 2015;51(1):103–107.
  • Chace DH, Hannon WH. Filter paper as a blood sample collection device for newborn screening. Clin Chem. 2016;62(3):423–425.
  • Beutler E, Baluda M, Donnell GN. A new method for the detection of galactoxemia and its carrier satate. J Lab Clin Med. 1964;64:694–705.
  • Heard GS, Secor McVoy JR, Wolf B. A screening method for biotinidase deficiency in newborns. Clin Chem. 1984;30(1):125–127.
  • Dussault JH, Coulombe P, Laberge C, et al. Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr. 1975;86(5):670–674.
  • Pang S, Hotchkiss J, Drash AL, et al. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45(5):1003–1008.
  • Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979;1(8114):472–474.
  • Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13(3):321–324.
  • Millington DS. The role of technology in newborn screening. N C Med J. 2019;80(1):49–53.
  • Moyer VA, Calonge N, Teutsch SM, et al. Expanding newborn screening: process, policy, and priorities. Hastings Cent Rep. 2008;38(3):32–39.
  • Therrell B. U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab. 2001;74(1–2):64–74.
  • Jansen ME, Lister KJ, van Kranen HJ, et al. Policy making in newborn screening needs a structured and transparent approach. Front Public Health. 2017;5:171.
  • Burgard P, Rupp K, Lindner M, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance . J Inherit Metab Dis. 2012;35(4):613–625.
  • Wilson JMG, Jungner G. Principles and practice of screening for disease. Public health paper. Geneva: World Health Organization; 1968.
  • Khoury MJ, McCabe LL, McCabe E. Population screening in the age of genomic medicine. N Engl J Med. 2003;348(1):50–58.
  • Grosse SD, Rogowski WH, Ross LF, et al. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genom. 2010;13(2):106–115.
  • Pitini E, De Vito C, Marzuillo C, et al. How is genetic testing evaluated? A systematic review of the literature. Eur J Hum Genet. 2018;26(5):605–615.
  • Shone SM. Newborn screening policy decisions: adding conditions. N C Med J. 2019;80(1):42–44.
  • American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics. 2006;117:S296–S307.
  • Martínez-Morillo E, Prieto García B, Álvarez Menéndez FV. Challenges for Worldwide harmonization of newborn screening programs. Clin Chem. 2016;62(5):689–698.
  • Kanungo S, Patel DR, Neelakantan M, et al. Newborn screening and changing face of inborn errors of metabolism in the United States. Ann Transl Med. 2018;6(24):468–468.
  • El-Hattab AW, Almannai M, Sutton VR. Newborn screening: history, current status, and future directions. Pediatr Clin North Am. 2018;65(2):389–405.
  • Gavrilov DK, Piazza AL, Pino G, et al. The combined impact of CLIR post-analytical tools and second tier testing on the performance of newborn screening for disorders of propionate, methionine, and cobalamin metabolism. IJNS. 2020;6(2):33.
  • Berry SA, Jurek AM, Anderson C, et al. The inborn errors of metabolism information system: a project of the Region 4 Genetics Collaborative Priority 2 Workgroup. Genet Med. 2010;12(12 Suppl):S215–S219.
  • Marquardt G, Currier R, McHugh DMS, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012;14(7):648–655.
  • Hall PL, Marquardt G, McHugh DMS, et al. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med. 2014;16(12):889–895.
  • Call for tender no EAHC/2009/Health/09 concerning evaluation of population newborn screening practices for rare disorders in Member States of the European Union [Internet]. old.iss.it. 2009. [cited 2020 Jan 27]. Available from: http://old.iss.it/binary/cnmr4/cont/TechnicalSpecifications.pdf
  • Loeber JG, Burgard P, Cornel MC, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis. 2012;35(4):603–611.
  • Loeber J. European Union should actively stimulate and harmonise neonatal screening initiatives. IJNS. 2018;4(4):32.
  • Communication from the commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases - Europe’s challenges [Internet]. op.europa.eu; 2008 [cited 2020 Jan 27]. Available from: https://op.europa.eu/en/publication-detail/-/publication/c8a042d8-ffb9-4b01-9c91-c1497a2b3fd7/language-en
  • EU Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). [Internet]. eur-lex.europa.eu; 2009 [cited 2020 Jan 27]. Available from: https://eurlex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
  • Expert Opinion document Newborn screening in Europe. Based on the EU Tender “Evaluation of population newborn screening practices for rare disorders in Member States of the European Union” [Internet]. isns-neoscreening.org; 2011 [cited 2020 Jan 27]. Available from: https://www.isns-neoscreening.org/wp-content/uploads/2018/11/Expert-opinion-document-on-NBS-FINAL.pdf
  • EUCERD Opinion 2013 Newborn Screening in Europe. [Internet]. EUCERD. [cited 2020. Jan 27]. Available from: http://www.eucerd.eu/wp-content/uploads/2013/07/EUCERD_NBS_Opinion_Adopted.pdf
  • Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171–187.
  • Ministerio de Sanidad, Consumo y Bienestar Social. Programas de Cribado neonatal de enfermedades endocrino-metabólicas. [Internet]. www.mscbs.gob.es. [cited 2020 Feb 4]. Available from: https://www.mscbs.gob.es/profesionales/saludPublica/prevPromocion/cribadoNeonatal.htm
  • Disposizioni in materia di accertamenti diagnostici neonatali obbligatori per la prevenzione e la cura delle malattie metaboliche ereditarie. (16G00180) [Internet]. trovanorme.salute.gov.it; 2016 [cited 2020 Feb 3]. Available from: http://www.trovanorme.salute.gov.it/norme/dettaglioAtto?id=55762
  • Therrell BL, Jr, Padilla CD. Newborn screening in the developing countries. Curr Opin Pediatr. 2018;30(6):734–739.
  • Pollitt RJ. Introducing new screens: why are we all doing different things? J Inherit Metab Dis. 2007;30(4):423–429.
  • Shook LM, Ware RE. Sickle cell screening in Europe: the time has come. Br J Haematol. 2018;183(4):534–535.
  • van der Hilst CS, Derks TGJ, Reijngoud D-J, et al. Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands. J Pediatr. 2007;151(2):115–120.e1203.
  • Pandor A, Eastham J, Beverley C, et al. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess. 2004;8(12):iii–121.
  • Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31(2):57–68.
  • Walter JH, Patterson A, Till J, et al. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J Inherit Metab Dis. 2009;32(1):95–101.
  • Hall K. Suitable specimen types for newborn biochemical screening-a summary. IJNS. 2017;3(3):17.
  • Clinical and Laboratory Standards Institute (CLSI). Blood Collection on Filter Paper for Newborn Screening Programs. Approved Standard-6th ed. Wayne (PA): Clinical and Laboratory Standards Institute; 2013.
  • Juraibah Al F, Alothaim A, Eyaid Al W, et al. Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism. Ann Saudi Med. 2019;39(5):291–294.
  • Public Health England. Newborn blood spot screening: programme handbook [Internet]. gov.uk; 2018 [cited 2020 Jan 27]. Available from: https://www.gov.uk/government/publications/health-professional-handbook-newborn-blood-spot-screening/2-screening-pathway
  • Cornel MC, Rigter T, Weinreich SS, et al. A framework to start the debate on neonatal screening policies in the EU: an expert opinion document. Eur J Hum Genet. 2014;22(1):12–17.
  • Bombard Y, Miller FA, Hayeems RZ, et al. Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet. 2010;18(7):751–760.
  • Buchbinder M, Timmermans S. Newborn screening and maternal diagnosis: rethinking family benefit. Soc Sci Med. 2011;73(7):1014–1018.
  • Comeau AM. Paradigm shifts in newborn screening? Genet Med. 2019;21(3):534–535.
  • Kokotos F. The vulnerable child syndrome. Pediatr Rev. 2009;30(5):193–194.
  • Schmitz K. Vulnerable child syndrome. Pediatr Rev. 2019;40(6):313–315.
  • Timmermans S, Buchbinder M. Patients-in-waiting: living between sickness and health in the genomics era. J Health Soc Behav. 2010;51(4):408–423.
  • Lewis MH. Newborn screening controversy: past, present, and future. JAMA Pediatr. 2014;168(3):199–200.
  • Ross LF. Ethical and policy issues in newborn screening of children for neurologic and developmental disorders. Pediatr Clin North Am. 2015;62(3):787–798.
  • Puckett RL, Orsini JJ, Pastores GM, et al. Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Mol Genet Metab. 2012;105(1):126–131.
  • Li Y, Brockmann K, Turecek F, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem. 2004;50(3):638–640.
  • Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005;352(20):2069–2081.
  • Orsini JJ. Newborn screening for Krabbe disease: perceived and current ethical issues. Dev Med Child Neurol. 2019;61(12):1354.
  • Kemper AR, Knapp AA, Green NS, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genet Med. 2010;12(9):539–543.
  • Arnold CG. Two faces of patient advocacy: the current controversy in newborn screening. J Med Ethics. 2014;40(8):558–562.
  • Public Health England. UK NSC: evidence review process [Internet]. gov.uk; 2017 [cited 2020 Jan 28]. Available from: https://www.gov.uk/government/publications/uk-nsc-evidence-review-process/uk-nsc-evidence-review-process
  • Oerton J, Khalid JM, Besley G, et al. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. J Med Screen. 2011;18(4):173–181.
  • Taylor JL, Lee S. Lessons learned from newborn screening in pilot studies. N C Med J. 2019;80(1):54–58.
  • EUCERD Recommendations on European reference networks for RD. [Internet]. EUCERD; 2013 [cited 2020 May 10]. Available from: www.eucerd.eu
  • Leppert K, Bisordi K, Nieto J, et al. Genetic counselors’ experience with and opinions on the management of newborn screening incidental carrier findings. J Genet Counsel. 2018;27(6):1328–1340.
  • Miller FA, Hayeems RZ, Bombard Y, et al. Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening. J Med Ethics. 2009;35(10):626–634.
  • Oliver S, Dezateux C, Kavanagh J, Lempert T, Stewart R, et al. Disclosing to parents newborn carrier status identified by routine blood spot screening. Cochrane Database Syst Rev. 2004;(4):CD003859.
  • Hurley MN, McKeever TM, Prayle AP, et al. Rate of improvement of CF life expectancy exceeds that of general population-observational death registration study. J Cyst Fibros. 2014;13(4):410–415.
  • Keogh RH, Szczesniak R, Taylor-Robinson D, et al. Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: a longitudinal study using UK patient registry data. J Cyst Fibros. 2018;17(2):218–227.
  • Ong T, Ramsey BW. New therapeutic approaches to modulate and correct cystic fibrosis transmembrane conductance regulator. Pediatr Clin North Am. 2016;63(4):751–764.
  • Plass AMC, van El CG, Pieters T, et al. Neonatal screening for treatable and untreatable disorders: prospective parents' opinions. Pediatrics. 2010;125(1):e99–e106.
  • Grosse SD. Does newborn screening save money? The difference between cost-effective and cost-saving interventions. J Pediatr. 2005;146(2):168–170.
  • Cipriano LE, Rupar CA, Zaric GS. The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Value Health. 2007;10(2):83–97.
  • Prosser LA, Grosse SD, Kemper AR, et al. Decision analysis, economic evaluation, and newborn screening: challenges and opportunities. Genet Med. 2013;14(8):703–712.
  • Grosse SD, Thompson JD, Ding Y, et al. The use of economic evaluation to inform newborn screening policy decisions: the Washington State experience. Milbank Q. 2016;94(2):366–391.
  • Phan HC, Taylor JL, Hannon H, el al. Newborn screening for spinal muscular atrophy: anticipating an imminent need. Semin Perinatol. 2015;39(3):217–229.
  • Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5(2):145–158.
  • LaFranchi SH. Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis. 2010;33(S2):225–233.
  • Ford G, LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab. 2014;28(2):175–187.
  • Comeau AM, Accurso FJ, White TB, Cystic Fibrosis Foundation, et al. Guidelines for implementation of cystic fibrosis newborn screening programs: cystic Fibrosis Foundation workshop report. Pediatrics. 2007;119(2):e495–e518.
  • Nshimyumukiza L, Bois A, Daigneault P, et al. Cost effectiveness of newborn screening for cystic fibrosis: a simulation study. J Cyst Fibros. 2014;13(3):267–274.
  • Chace DH, Hannon WH. Impact of Second-tier testing on the effectiveness of newborn screening. Clin Chem. 2010;56(11):1653–1655.
  • Matern D, Tortorelli S, Oglesbee D, et al. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007)). J Inherit Metab Dis. 2007;30(4):585–592.
  • Oglesbee D, Sanders KA, Lacey JM, et al. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem. 2008;54(3):542–549.
  • Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem. 2004;50(3):621–625.
  • Monostori P, Klinke G, Richter S, et al. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. PLoS One. 2017;12(9):e0184897.
  • la Marca G, Malvagia S, Pasquini E, et al. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem. 2007;53(7):1364–1369.
  • Tortorelli S, Turgeon CT, Lim JS, et al. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010;157(2):271–275.
  • Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem. 2008;54(4):657–664.
  • Forni S, Fu X, Palmer SE, et al. Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis. Mol Genet Metab. 2010;101(1):25–32.
  • Pasquali M, Schwarz E, Jensen M, et al. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis. 2014;37(2):231–236.
  • Sinclair GB, van Karnebeek CDM, Ester M, et al. A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening. Mol Genet Metab. 2016;118(3):173–177.
  • Turgeon CT, Moser AB, Morkrid L, et al. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab. 2015;114(1):46–50.
  • Burlina AB, Polo G, Rubert L, et al. Implementation of second-tier tests in newborn screening for lysosomal disorders in North Eastern Italy. IJNS. 2019;5(2):24.
  • Turgeon CT, Orsini JJ, Sanders KA, et al. Measurement of psychosine in dried blood spots–a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis. 2015;38(5):923–929.
  • Donati MA, Pasquini E, Spada M, et al. Newborn screening in mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):126–126.
  • Griffiths WJ, Wang Y, Alvelius G, et al. Analysis of oxysterols by electrospray tandem mass spectrometry. J Am Soc Mass Spectrom. 2006;17(3):341–362.
  • Tortorelli S, Turgeon CT, Gavrilov DK, et al. Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clin Chem. 2016;62(9):1248–1254.
  • Cribado neonatal de la fibrosis quística. Eficacia/efectividad y protocolos de implementación [Newborn screening for cystic fibrosis. Efficacy/effectiveness and implementation protocols]. Red Española de Agencias de Evaluación de Tecnologías y Prestaciones del SNS. Axencia de Avaliación de Tecnoloxías Sanitarias de Galicia; 2013. Spanish. [cited 2020 Jun 16]. Available at: https://www.sergas.es/Docs/Avalia-t/avaliat201201fibrosis-Quistica.pdf

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