Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: A sociotechnical analysis

Health Policy

Volumn 83, Issue 2-3, 2007, Pages 277-286

  Achterbergh, Roos ^a,b   Lakeman, Phillis ^a   Stemerding, Dirk ^c   Moors, Ellen H M ^b   Cornel, Martina C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF TWENTE   (Netherlands)

Author keywords

cystic fibrosis; Haemoglobinopathy; Implementation; Preconceptional; Screening; Sociotechnical analysis

Indexed keywords

ARTICLE; CYSTIC FIBROSIS; GENETIC SCREENING; HEALTH PROGRAM; HEMOGLOBINOPATHY; MATERNAL CARE; RISK ASSESSMENT;

CYSTIC FIBROSIS; FEMALE; GENETIC SCREENING; HEALTH PLAN IMPLEMENTATION; HEMOGLOBINOPATHIES; HETEROZYGOTE DETECTION; HUMANS; MALE; NETHERLANDS; PRECONCEPTION CARE; PROGRAM DEVELOPMENT;

EID: 34547872031     PISSN: 01688510     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.healthpol.2007.02.007     Document Type: Article

References (56)

1. Khoury M.J., McCabe L.L., and McCabe E.R. Population screening in the age of genomic medicine. New England Journal of Medicine 348 (2003) 50-58
2. Collins F.S. Shattuck lecture-medical and societal consequences of the Human Genome Project. New England Journal of Medicine 341 (1999) 28-37
3. Halliday J.L., Collins V.R., Aitken M.A., Richards M.P., and Olsson C.A. Genetics and public health-evolution, or revolution?. Journal of Epidemiology and Community Health 58 (2004) 894-899
4. Henneman L., Langendam M.W., and ten Kate L.P. Community genetics and its evaluation: a European Science Foundation Workshop. Community Genetics 4 (2001) 56-59
5. Newson A.J., and Humphries S.E. Cascade testing in familial hypercholesterolaemia: how should family members be contacted?. European Journal of Human Genetics 13 (2005) 401-408
6. Rosenstein B.J., and Zeitlin P.L. Cystic fibrosis. Lancet 351 (1998) 277-282
7. Welsh M.J., Tsui L.C., Boat T.F., and Beaudet A.L. Cystic fibrosis. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease. 7th ed. (1995), McGraw-Hill, New York 3799-3876
8. Higgs D.R. The thalassaemia syndromes. Quarterly Journal of Medicine 86 (1993) 559-564
9. Morris J.K., Law M.R., and Wald N.J. Is cascade testing a sensible method of screening a population for autosomal recessive disorders?. American Journal of Medical Genetics A 128 (2004) 271-275
10. de Wert G. Cascade screening: whose information is it anyway?. European Journal of Human Genetics 13 (2005) 397-398
11. Hodge Jr. J.G. Ethical issues concerning genetic testing and screening in public health. American Journal of Medical Genetics C Seminar on Medical Genetics 125 (2004) 66-70
12. Koch L., and Stemerding D. The sociology of entrenchment: a cystic fibrosis test for everyone?. Social Science Medicine 39 (1994) 1211-1220
13. Moors EHM, Rip A, Wiskerke JSC. The dynamics of innovation: a multilevel co-evolutionary perspective. In: Wiskerke JSC, van der PLoeg JD, editors. Seeds of transition. Essays on novelty production, niches and regimes in agriculture. Assen: Van Gorcum; 2004.
14. Rip A., and Kemp R. Technological change. In: Rayner S., and Malone E.L. (Eds). Human choice and climate change (1998), Batelle Press, Columbus 327-399
15. Geels F.W. Technological transistions as evolutionary reconfiguration processes: a multi-level prespective and a case-study. Research Policy 31 8/9 (2002) 1257-1274
16. Geels F.W. From sectoral systems of innovation to socio-technical systems: insights about dynamics and change from sociology and institutional theory. Research Policy 33 6-7 (2004) 897-920
17. Axworthy D., Brock D.J., Bobrow M., and Marteau T.M. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet 347 (1996) 1443-1446
18. Bekker H., Denniss G., Modell M., Bobrow M., and Marteau T. The impact of population based screening for carriers of cystic fibrosis. Journal Medical Genetics 31 (1994) 364-368
19. Henneman L., Bramsen I., van der Ploeg H.M., Ader H.J., van der Horst H.E., Gille J.J., et al. Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. Journal Medical Genetics 38 (2001) 695-703
20. Payne Y., Williams M., Cheadle J., Stott N.C., Rowlands M., Shickle D., et al. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51 (1997) 153-163
21. Watson E.K., Mayall E.S., Lamb J., Chapple J., and Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 340 (1992) 217-220
22. Chern J.P., Lin K.H., Su Y.N., Lu M.Y., Jou S.T., Lin D.T., et al. Impact of a national beta-thalassemia carrier screening program on the birth rate of thalassemia major. Pediatric Blood and Cancer 46 (2006) 72-76
23. Keskin A., Turk T., Polat A., Koyuncu H., and Saracoglu B. Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. Acta Haematology 104 (2000) 31-33
24. Modell B., and Kuliev A. The history of community genetics: the contribution of the haemoglobin disorders. Community Genetics 1 (1998) 3-11
25. de Walle H.E., Cornel M.C., de Smit D.J., and de Jong-Van Den Berg L.T. Preconceptional use of folic acid amongst women of advanced maternal age. Prenatal Diagnosis 19 (1999) 996-997
26. de Walle H.E., and de Jong-Van Den Berg L.T. Insufficient folic acid intake in the Netherlands: what about the future?. Teratology 66 (2002) 40-43
27. Nelis A. DNA diagnostics in the Netherlands. Thesis. Twente University; 1998.
28. Stemerding D., and van Berkel D. Maternal serum screening, political decision-making and social learning. Health Policy 56 (2001) 111-125
29. Bobadilla J.L., Macek Jr. M., Fine J.P., and Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Human Mutations 19 (2002) 575-606
30. Estivill X., Bancells C., and Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Human Mutations 10 (1997) 135-154
31. Grody W.W., Cutting G.R., Klinger K.W., Richards C.S., Watson M.S., and Desnick R.J. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genetics in Medicine 3 (2001) 149-154
32. Weatherall D.J., and Clegg J.B. Inherited haemoglobin disorders: an increasing global health problem. Bulletin of World Health Organization 79 (2001) 704-712
33. Henneman L., Bramsen I., van Kempen L., van Acker M.B., Pals G., van der Horst H.E., et al. Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genetics 6 (2003) 5-13
34. Poppelaars F.A., Henneman L., Ader H.J., Cornel M.C., Hermens R.P., van der W.G., et al. How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genetics 6 (2003) 157-165
35. Schrander-Stumpel C. Preconception care: challenge of the new millennium?. American Journal of Medical Genetics 89 (1999) 58-61
36. Baars M.J., Scherpbier A.J., Schuwirth L.W., Henneman L., Beemer F.A., Cobben J.M., et al. Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genetics in Medicine 7 (2005) 295-301
37. Henneman L., Bramsen I., van der Ploeg H.M., and ten Kate L.P. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic Testing 6 (2002) 195-202
38. Poppelaars F.A., Henneman L., Ader H.J., Cornel M.C., Hermens R.P., van der W.G., et al. Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population. Genetic Testing 8 (2004) 80-89
39. Henneman L., Poppelaars F.A., and ten Kate L.P. Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria. Genetics in Medicine 4 (2002) 241-249
40. Kuppermann M., Nease Jr. R.F., Gates E., Learman L.A., Blumberg B., Gildengorin V., et al. How do women of diverse backgrounds value prenatal testing outcomes?. Prenatal Diagnosis 24 (2004) 424-429
41. Rabino I. Genetic testing and its implications: human genetics researchers grapple with ethical issues. Science, Technology and Human Values 28 (2003) 365-402
42. Cornel M.C., and Erickson J.D. Comparison of national policies on periconceptional use of folic acid to prevent spina bifida and anencephaly (SBA). Teratology 55 (1997) 134-137
43. Czeizel A.E., and Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. New England Journal of Medicine 327 (1992) 1832-1835
44. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 1991;338:131-137.
45. Oakley Jr. G.P., and Johnston Jr. R.B. Balancing benefits and harms in public health prevention programmes mandated by governments. British Medical Journal 329 (2004) 41-43
46. Health Council of the Netherlands, Netherlands Nutrition Centre. Vervolgadvies inzake foliumzuurvoorziening in relatie tot neuraalbuisdefecten [Continued advice concerning folic acid use in relation to neural tube defects] 1993; The Hague: Netherlands Nutrition Centre.
47. Meijer W.M., de Smit D.J., Jurgens R.A., and de Jong-Van Den Berg L.T.W. Improved periconceptional use of folic acid after patient education in pharmacies: promising results of a pilot study in the Netherlands. International Journal of Pharmaceutical Practice 13 (2005) 47-51
48. Botto L.D., Lisi A., Robert-Gnansia E., Erickson J.D., Vollset S.E., Mastroiacovo P., et al. International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?. British Medical Journal 330 (2005) 571
49. Busby A., Abramsky L., Dolk H., Armstrong B., Addor M.C., Anneren G., et al. Preventing neural tube defects in Europe: a missed opportunity. Reproductive Toxicology 20 (2005) 393-402
50. Brown M.S., and Goldstein J.L. A receptor-mediated pathway for cholesterol homeostasis. Science 232 (1986) 34-47
51. Sibley C., and Stone N.J. Familial hypercholesterolemia: a challenge of diagnosis and therapy. Cleveland Clinic Journal of Medicine 73 (2006) 57-64
52. Umans-Eckenhausen M.A., Defesche J.C., Sijbrands E.J., Scheerder R.L., and Kastelein J.J. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 357 (2001) 165-168
53. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., and Neil H.A. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. British Medical Journal 324 (2002) 1303
54. Tyerman P.F., and Tyerman G.V. Another way of screening for familial hypercholesterolaemia. British Medical Journal 325 (2002) 340
55. Defesche J.C., Lansberg P.J., Umans-Eckenhausen M.A., and Kastelein J.J. Advanced method for the identification of patients with inherited hypercholesterolemia. Seminars in Vascular Medicine 4 (2004) 59-65
56. Marang-van de Mheen P.J., van Maarle M.C., and Stouthard M.E. Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in The Netherlands. Journal of Epidemiology in Community Health 56 (2002) 145-147