Newborn screening for pompe disease? a qualitative study exploring professional views

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• 作者：Carla G van El (1)
  Tessel Rigter (1)
  Arnold JJ Reuser (2) (3)
  Ans T van der Ploeg (2) (3) (4)
  Stephanie S Weinreich (1) (2) (3)
  Martina C Cornel (1) (5) (6)
  
  1. Department of Clinical Genetics/EMGO Institute for Health and Care Research ; Section Community Genetics ; VU University Medical Center ; Van der Boechorststraat 7 ; 1081BT ; Amsterdam ; The Netherlands
  2. Center for Lysosomal and Metabolic Diseases ; Erasmus MC University Medical Center ; Wytemaweg 80 ; 3015CN ; Rotterdam ; The Netherlands
  3. Department of Clinical Genetics ; Erasmus MC University Medical Center ; Dr. Molewaterplein 50 ; 3015 GE ; Rotterdam ; The Netherlands
  4. Department of Pediatrics ; Division of Metabolic Diseases and Genetics ; Erasmus MC University Medical Center ; Dr. Molewaterplein 60 ; 3915GJ ; Rotterdam ; The Netherlands
  5. Centre for Medical Systems Biology ; Leiden University ; Postbox 9600 ; 2300 RC ; Leiden ; The Netherlands
  6. CSG Centre for Society and the Life Sciences ; Toernooiveld 216 ; 6525 EC ; Nijmegen ; The Netherlands
  
• 刊名：BMC Pediatrics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：295 KB
• 参考文献：1. Burgard, P, Rupp, K, Lindner, M, Haege, G, Rigter, T, Weinreich, SS, Loeber, JG, Taruscio, D, Vittozzi, L, Cornel, MC, Hoffmann, GF (2012) 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 35: pp. 613-625 CrossRef
  2. Wilson, JMG, Jungner, G (1968) Principles and practice of screening for disease. WHO, Geneva
  3. Chien, YH, Chiang, SC, Zhang, XK, Keutzer, J, Lee, NC, Huang, AC, Chen, CA, Wu, MH, Huang, PH, Tsai, FJ, Chen, YT, Hwu, WL (2008) Early detection of pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122: pp. e39-e45 CrossRef
  4. Mechtler, TP, Stary, S, Metz, TF, De Jes煤s, VR, Greber-Platze, S, Pollak, A, Herkner, KR, Streubel, B, Kasper, DC (2012) Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379: pp. 335-341 CrossRef
  5. Duffey, TA, Bellamy, G, Elliott, S, Fox, AC, Glass, M, Turecek, F, Gelb, MH, Scott, CR (2010) A tandem mass spectrometry triplex assay for the detection of fabry, pompe, and mucopolysaccharidosis-I (hurler). Clin Chem 56: pp. 1854-1861 CrossRef
  6. Secretary鈥檚 Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC): External evidence review report. [ mchbadvisory/heritabledisorders/nominatecondition/workgroup.html" class="a-plus-plus">http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html]. (Accessed December 11, 2013)
  7. Genetic Alliance: Federal advisory committee recommends pompe disease for newborn screening. [ http://www.babysfirsttest.org/sites/default/files/Pompe_Final_0.pdf]. (Accessed December 11 2013)
  8. Cornel, MC, Rigter, T, Weinreich, SS, Burgard, P, Hoffmann, GF, Lindner, M, Loeber, JG, Rupp, K, Taruscio, D, Vittozzi, L (2014) A framework to start the debate on neonatal screening policies in the EU - an expert opinion document. Eur J Hum Genet 22: pp. 12-17 CrossRef
  9. G眉ng枚r, D, Reuser, AJJ (2013) How to describe the clinical spectrum in pompe disease ?. Am J Med Genet Part A 161A: pp. 399-400 CrossRef
  10. Bombard, Y, Miller, FA, Hayeems, RZ, Avard, D, Knoppers, BM (2010) Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet 18: pp. 751-760 CrossRef
  11. Forman, J, Coyle, F, Levy-Fisch, J, Roberts, P, Terry, S, Legge, M (2013) Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. J Community Genet 4: pp. 59-67 CrossRef
  12. Potter, BK, Avard, D, Wilson, BJ (2008) Newborn blood spot screening in four countries: stakeholder involvement. J Public Health Policy 29: pp. 121-142 CrossRef
  13. Bruni, RA, Laupacis, A (2008) Public engagement in setting priorities in health care. CMAJ 179: pp. 15-18 CrossRef
  14. Weinreich, SS, Rigter, T, Van El, CG, Dondorp, WJ, Kostense, PJ, Van der Ploeg, AT, Reuser, AJ, Cornel, MC, Hagemans, ML (2012) Public support for neonatal screening for pompe disease, a broad-phenotype condition. Orphanet J Rare Dis 7: pp. 15 CrossRef
  Neonatal screening. Health Council of the Netherlands, The Hague
  15. Van den Hout, HM, Hop, W, Van Diggelen, OP, Smeitink, JA, Smit, GP, Poll-The, BT, Bakker, HD, Loonen, MC, de Klerk, JB, Reuser, AJ, Van der Ploeg, AT (2003) The natural course of infantile Pompe鈥檚 disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112: pp. 332-340 CrossRef
  16. Rigter, T, Weinreich, SS, Van El, CG, De Vries, JM, Van Gelder, CM, G眉ng枚r, D, Reuser, AJ, Hagemans, ML, Cornel, MC, van der Ploeg, AT (2012) Severely impaired health status at diagnosis of pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Molecular Genet Metab 107: pp. 448-455 CrossRef
  17. Kwon, JM, Steiner, RD (2011) " I鈥檓 fine; I鈥檓 just waiting for my disease". the new and growing class of presymptomatic patients. Neurology 77: pp. 522-523 CrossRef
  18. Health Care Insurance Board of the Netherlands: / Advice alglucosidase Alfa (myozyme) in case of pompe disease. (in Dutch) [ http://www.zorginstituutnederland.nl/binaries/content/documents/zinl-www/documenten/publicaties/rapporten-en-standpunten/2012/1211-advies-alglucosidase-alfa-myozyme-bij-de-indicatie-ziekte-van-pompe/1211-advies-alglucosidase-alfa-myozyme-bij-de-indicatie-ziekte-van-pompe/Advies+alglucosidase+alfa+%28Myozyme%29+bij+de+indicatie+%27ziekte+van+Pompe%27.pdf]. (Acccessed August 2014)
  19. Schippers EI: / Letter from the minister of health, welfare and sports to the house of representatives of the Netherlands on reimbursement for orphan drugs for pompe disease and fabry disease. dated 30鈥?-2013, reference number GMT-3152045 (in Dutch) [ http://www.rijksoverheid.nl/documenten-en-publicaties/kamerstukken/2013/01/30/kamerbrief-over-vergoeding-weesgeneesmiddelen-voor-ziekte-van-pompe-en-ziekte-van-fabry.html]. (Acccessed August 2014)
  20. Van El, CG, Pieters, T, Cornel, M (2012) Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands. J Community Genet 3: pp. 79-89 CrossRef
  21. Van der Ploeg, AT, Clemens, PR, Corzo, D, Escolar, DM, Florence, J, Groeneveld, GJ, Herson, S, Kishnani, PS, Laforet, P, Lake, SL, Lange, DJ, Leshner, RT, Mayhew, JE, Morgan, C, Nozaki, K, Park, DJ, Pestronk, A, Rosenbloom, B, Skrinar, A, Van Capelle, CI, Van der Beek, NA, Wasserstein, M, Zivkovic, SA (2010) A randomized study of alglucosidasealfa in late-onset Pompe鈥檚 disease. N Engl J Med 362: pp. 1396-1406 CrossRef
  22. Borry, P, Evers-Kiebooms, G, Cornel, MC, Clarke, A, Dierickx, K (2009) Genetic testing in asymptomatic minors: background considerations towards ESHG recommendations. Eur J Hum Genet 17: pp. 711-719 CrossRef
  23. Friedman Ross, L (2012) Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis 35: pp. 627-634 CrossRef
  24. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2431/14/203/prepub
  
• 刊物主题：Pediatrics; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2431

文摘

Background Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders. Methods We conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail. Results Advantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages. Conclusion When weighing pros and cons, interviewees attach different importance to different arguments, based on personal and professional views. Professionals expect benefits from neonatal screening for Pompe disease, especially for early-onset cases. Some interviewees valued screening in later manifesting cases as well, while stressing the need for adequate support of pre-symptomatic patients and their families. Others considered the psychological burden and uncertainties regarding treatment as reasons not to screen.