Population-based carrier screening for cystic fibrosis: A systematic review of 23 years of research

Genetics in Medicine

Volumn 16, Issue 3, 2014, Pages 207-216

  Ioannou, Liane ^a,b   Mcclaren, Belinda J ^a   Massie, John ^a,c,d   Lewis, Sharon ^a   Metcalfe, Sylvia A ^a   Forrest, Laura ^a   Delatycki, Martin B ^a,b,d,e  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e AUSTIN HEALTH   (Australia)

Author keywords

Carrier screening; Cystic fibrosis; Literature review; Population based; Psychosocial

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ANXIETY; AUSTRALIA; CANADA; CARRIER SCREENING; CINAHL; COCHRANE LIBRARY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE; DENMARK; EDUCATION; EMBASE; EMOTION; ETHNICITY; FOLLOW UP; GENDER; GENE; GENETIC COUNSELING; GENETIC SCREENING; GERMANY; HETEROZYGOTE DETECTION; HUMAN; INCOME; LIVE BIRTH; MEDLINE; OUTCOME ASSESSMENT; PARITY; PATIENT ATTITUDE; PATIENT DECISION MAKING; PATIENT EDUCATION; PATIENT WORRY; PRACTICE GUIDELINE; PREGNANCY; PREVALENCE; PSYCHOLOGICAL ASPECT; PSYCINFO; REVIEW; SELF ESTEEM; SHOCK; SURPRISE; SYSTEMATIC REVIEW; UNITED KINGDOM; UNITED STATES; ATTITUDE TO HEALTH; GENETICS; HEALTH SURVEY; PATIENT PARTICIPATION; PROCEDURES; PSYCHOLOGY; STATISTICS AND NUMERICAL DATA;

CYSTIC FIBROSIS; GENETIC TESTING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HETEROZYGOTE DETECTION; HUMANS; PATIENT ACCEPTANCE OF HEALTH CARE; PATIENT PARTICIPATION; POPULATION SURVEILLANCE;

EID: 84893919316     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.125     Document Type: Review

References (105)

1. O'Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: Cloning and charaterization of complementary DNA. Science 1989;245:1066-1073
2. Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Cutting GR. CFTR-Related Disorders. In: GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2013. http://www. genetests.org. Accessed 21 January 2013
3. Dodge JA, Lewis PA, Stanton M, Wilsher J. Cystic fibrosis mortality and survival in the UK: 1947-2003. Eur Respir J 2007;29:522-526
4. Rowe SM, Miller S, Sorscher EJ. Mechanisms of disease: Cystic fibrosis. New Engl J Med 2005;352:1992
5. Castellani C, Massie J. Emerging issues in cystic fibrosis newborn screening. Curr Opin Pulm Med 2010;16:584-590
6. Sawyer SM, Cerritelli B, Carter LS et al. Reproductive behaviours in parents of children with cystic fibrosis changing their minds with time: A comparison of hypothetical and actual. Pediatrics 2006;118:649-656
7. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol 2011;117:1028-1031
8. Human Genetics Society of Australasia. Cystic fibrosis population screening position paper (Document No. PS02). HGSA: Sydney, Australia. http://www. hgsa.org.au/website/wp-content/uploads/2010/06/2010PS02- CYSTICFIBROSIS-POPULATION-SCREENING1.pdf. Accessed 4 December 2012
9. UK National Screening Committee. Cystic fibrosis (pregnancy). UK NSC Policy Database. http://www.screening.nhs.uk/cysticfibrosis-pregnancy. Accessed 22 September 2012
10. Decruyenaere M, Evers-Kiebooms G, Denayer L, Van den Berghe H. Cystic fibrosis: Community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 1992;41:189-196
11. Green JM. Principles and practicalities of carrier screening: Attitudes of recent parents. J Med Genet 1992;29:313-319
12. Magnay D, Wilson O, el Hait S, Balhamar M, Burn J. Carrier testing for cystic fibrosis: Knowledge and attitudes within a local community. J R Coll Physicians Lond 1992;26:69-70
13. Ten Kate LP, Tijmstra T. Community attitudes to cystic fibrosis carrier screening. Prenat Diagn 1990;10:275-276
14. McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M. 'It is not in my world': An exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 2008;16:435-444
15. Poppelaars FA, Henneman L, Adèr HJ, et al. How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genet 2003;6:157-165
16. Ioannou L, Massie J, Lewis S, McClaren B, Collins V, Delatycki MB. 'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening. J Community Genet, in press
17. Mennie M, Compton M, Gilfillan A, et al. Prenatal screening for cystic fibrosis: Attitudes and responses of participants. Clin Genet 1993;44:102-106
18. Poppelaars FA, van der Wal G, Braspenning JC, et al. Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: A focus group study. Public Health 2003;117:396-403
19. Ten Kate LP, Tijmstra T. Carrier screening for cystic fibrosis. Lancet 1989;2:973-974
20. Ioannou L, Massie J, Collins V, McClaren B, Delatycki MB. Population-based genetic screening for cystic fibrosis: Attitudes and outcomes. Public Health Genomics 2010;13:449-456
21. Watson EK, Mayall E, Chapple J, et al. Screening for carriers of cystic fibrosis through primary health care services. BMJ 1991;303:504-507
22. Watson EK, Williamson R, Chapple J. Attitudes to carrier screening for cystic fibrosis: A survey of health care professionals, relatives of sufferers and other members of the public. Br J Gen Pract 1991;41:237-240
23. Botkin JR, Alemagno S. Carrier screening for cystic fibrosis: A pilot study of the attitudes of pregnant women. Am J Public Health 1992;82:723-725
24. Williamson R, Allison ME, Bentley TJ, et al. Community attitudes to cystic fibrosis carrier testing in England: A pilot study. Prenat Diagn 1989;9:727-734
25. Twal M. Women's perceptions of the value of genetic screening at different life stages. Health Sci: Dissertation Abstracts Int 1998;59:Abstract 2712-B.
26. Neiger R, Abuelo DN, Passero MA. Attitudes toward genetic testing for cystic fibrosis among college students. J Genet Couns 1992;1:219-226
27. Welkenhuysen M, Evers-Kiebooms G, Decruyenaere M, Van den Berghe H, Bande-Knops J, Van Gerven V. Adolescents' attitude towards carrier testing for cystic fibrosis and its relative stability over time. Eur J Hum Genet 1996;4:52-62
28. Durfy SJ, Page A, Eng B, Chang PL, Waye JS. Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis. J Genet Couns 1994;3:141-155
29. Cobb E, Holloway S, Elton R, Raeburn JA. What do young people think about screening for cystic fibrosis? J Med Genet 1991;28:322-324
30. Poppelaars FA, Henneman L, Adèr HJ, et al. Preconceptional cystic fibrosis carrier screening: Attitudes and intentions of the target population. Genet Test 2004;8:80-89
31. Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW 3rd, Phillips III J.A. Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet 1996;58:617-627
32. Henneman L, Bramsen I, van der Ploeg HM, et al. Participation in preconceptional carrier couple screening: Characteristics, attitudes, and knowledge of both partners. J Med Genet 2001;38:695-703
33. Henneman L, Bramsen I, van Kempen L, et al. Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet 2003;6:5-13
34. Henneman L, Weijers-Poppelaars FAM, Ten Kate LP. Desirability and feasibility of preconception cystic fibrosis carrier screening. Neth J Med 2004;148:618-622
35. Sturm EL, Ormond KE. Adjunct prenatal testing: Patient decisions regarding ethnic carrier screening and fluorescence in situ hybridization. J Genet Couns 2004;13:45-63
36. Cuckle H, Quirke P, Sehmi I, et al. Antenatal screening for cystic fibrosis. Br J Obstet Gynaecol 1996;103:795-799
37. Harris HJ, Scotcher D, Craufurd D, Wallace A, Harris R. Cystic fibrosis carrier screening at first diagnosis of pregnancy in general practice. Lancet 1992;339:1539
38. Jung U, Urner U, Grade K, Coutelle C. Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population. Hum Genet 1994;94:19-24
39. Witt DR, Schaefer C, Hallam P, et al. Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 1996;58:823-835
40. Fang CY, Dunkel-Schetter C, Tatsugawa ZH, et al. Attitudes toward genetic carrier screening for cystic fibrosis among pregnant women: The role of health beliefs and avoidant coping style. Womens Health 1997;3:31-51
41. Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Cystic fibrosis carrier testing in early pregnancy by general practitioners. BMJ 1993;306:1580-1583
42. Bekker H, Modell M, Denniss G, et al. Uptake of cystic fibrosis testing in primary care: Supply push or demand pull? BMJ 1993;306:1584-1586
43. Tambor ES, Bernhardt BA, Chase GA, et al. Offering cystic fibrosis carrier screening to an HMO population: Factors associated with utilization. Am J Hum Genet 1994;55:626-637
44. Livingstone J, Axton RA, Mennie M, Gilfillan A, Brock DJ. A preliminary trial of couple screening for cystic fibrosis: Designing an appropriate information leaflet. Clin Genet 1993;43:57-62
45. Mennie ME, Liston WA, Brock DJ. Prenatal cystic fibrosis carrier testing: Designing an information leaflet to meet the specific needs of the target population. J Med Genet 1992;29:308-312
46. Myers MF, Bernhardt BA, Tambor ES, Holtzman NA. Involving consumers in the development of an educational program for cystic fibrosis carrier screening. Am J Hum Genet 1994;54:719-726
47. Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW 3rd, Phillips III J.A. Teaching about cystic fibrosis carrier screening by using written and video information. Am J Hum Genet 1995;57:171-181
48. Castellani C, Perobelli S, Bianchi V, et al. An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests. Am J Med Genet A 2011;155A:778-785
49. Flinter FA, Silver A, Mathew CG, Bobrow M. Population screening for cystic fibrosis. Lancet 1992;339:1539-1540
50. Bekker H, Denniss G, Modell M, Bobrow M, Marteau T. The impact of population based screening for carriers of cystic fibrosis. J Med Genet 1994;31:364-368
51. Brock DJ. Prenatal screening for cystic fibrosis: 5 years' experience reviewed. Lancet 1996;347:148-150
52. Miedzybrodzka ZH, Hall MH, Mollison J, et al. Antenatal screening for carriers of cystic fibrosis: Randomised trial of stepwise v couple screening. BMJ 1995;310:353-357
53. Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. Population screening for cystic fibrosis in Western Australia: Community response. Am J Med Genet 2000;93:198-204
54. Fries MH, Bashford M, Nunes M. Implementing prenatal screening for cystic fibrosis in routine obstetric practice. Am J Obstet Gynecol 2005;192:527-534
55. Hall J, Fiebig DG, King MT, Hossain I, Louviere JJ. What influences participation in genetic carrier testing? Results from a discrete choice experiment. J Health Econ 2006;25:520-537
56. Sparbel KJ, Williams JK. Pregnancy as foreground in cystic fibrosis carrier testing decisions in primary care. Genet Test Mol Biomarkers 2009;13:133-142
57. Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice. Br J Gen Pract 1996;46:225-227
58. Delvaux I, van Tongerloo A, Messiaen L, et al. Carrier screening for cystic fibrosis in a prenatal setting. Genet Test 2001;5:117-125
59. Mennie ME, Gilfillan A, Compton ME, Liston WA, Brock DJ. Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing. Prenat Diagn 1993;13:807-814
60. Grody WW, Dunkel-Schetter C, Tatsugawa ZH, et al. PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population. Am J Hum Genet 1997;60:935-947
61. Hill R, Stanisstreet M, Boyes E, O'Sullivan H. Public lacks knowledge about genetic testing and gene therapy. BMJ 1995;311:1370
62. Bernhardt BA, Chase GA, Faden RR, et al. Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med 1996;5:336-340
63. Kaplan F, Clow C, Scriver CR. Cystic fibrosis carrier screening by DNA analysis: A pilot study of attitudes among participants. Am J Hum Genet 1991;49:240-242
64. Gordon C, Walpole I, Zubrick SR, Bower C. Population screening for cystic fibrosis: Knowledge and emotional consequences 18 months later. Am J Med Genet A 2003;120A:199-208
65. Brandt NJ, Schwartz M, Skovby F, Clausen H. [A follow-up study of carriers of cystic fibrosis]. Ugeskr Laeg 1996;158:4623-4627
66. Clausen H, Brandt NJ, Schwartz M, Skovby F. Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman-A pilot study. Clin Genet 1996;49:200-205
67. Clausen H, Brandt NJ, Schwartz M, Skovby F. Psychological impact of carrier screening for cystic fibrosis among pregnant women. Eur J Hum Genet 1996;4:120-123
68. Marteau TM, Michie S, Miedzybrodzka ZH, Allanson A. Incorrect recall of residual risk three years after carrier screening for cystic fibrosis: A comparison of two-step and couple screening. Am J Obstet Gynecol 1999;181:165-169
69. Hartley NE, Scotcher D, Harris H, et al. The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. J Med Genet 1997;34:459-464
70. Payne Y, Williams M, Cheadle J, 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. Clin Genet 1997;51:153-163
71. Wake SA, Rogers CJ, Colley PW, Hieatt EA, Jenner CF, Turner GM. Cystic fibrosis carrier screening in two New South Wales country towns. Med J Aust 1996;164:471-474
72. Mitchell J, Scriver CR, Clow CL, Kaplan F. What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet 1993;30:538-542
73. Axworthy D, Brock DJ, Bobrow M, Marteau TM. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet 1996;347:1443-1446
74. Watson EK, Mayall ES, Lamb J, Chapple J, Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 1992;340:217-220
75. Doherty RA, Palomaki GE, Kloza EM, Erickson JL, Haddow JE. Couple-based prenatal screening for cystic fibrosis in primary care settings. Prenat Diagn 1996;16:397-404
76. Henneman L, Bramsen I, van der Ploeg HM, ten Kate LP. Preconception cystic fibrosis carrier couple screening: Impact, understanding, and satisfaction. Genet Test 2002;6:195-202
77. Dacus J, Mabie B, Gailey T, Rogers C, Likes C, Metcalf L. Cystic fibrosis screening at the Greenville Hospital System. J S C Med Assoc 2006;102:14-16
78. Levenkron JC, Loader S, Rowley PT. Carrier screening for cystic fibrosis: Test acceptance and one year follow-up. Am J Med Genet 1997;73:378-386
79. Mennie ME, Gilfillan A, Compton M, et al. Prenatal screening for cystic fibrosis. ancet 1992;340:214-216
80. Schwartz M, Brandt NJ, Skovby F. Screening for carriers of cystic fibrosis among pregnant women: A pilot study. Eur J Hum Genet 1993;1:239-244
81. Boulton M, Cummings C, Mayall E, Watson E, Williamson R. A video to inform and reassure autonomous cystic fibrosis carriers identified by a community screening programme. Health Educ J 1996;55:203-214
82. Massie J, Petrou V, Forbes R, et al. Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience. Aust N Z J Obstet Gynaecol 2009;49:484-489
83. Mennie ME, Compton ME, Gilfillan A, et al. Prenatal screening for cystic fibrosis: Psychological effects on carriers and their partners. J Med Genet 1993;30:543-548
84. Livingstone J, Axton RA, Gilfillan A, et al. Antenatal screening for cystic fibrosis: A trial of the couple model. BMJ 1994;308:1459-1462
85. Loader S, Caldwell P, Kozyra A, et al. Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet 1996;59:234-247
86. Ormond K. Implementing prenatal screening for cystic fibrosis in routine obstetric practice. Am J Obstet Gynecol 2006;194:904; author reply 904-904; author reply 905
87. Marteau TM, Dundas R, Axworthy D. Long-Term cognitive and emotional impact of genetic testing for carriers of cystic fibrosis: The effects of test result and gender. Health Psychol 1997;16:51-62
88. Murray J, Cuckle H, Taylor G, Littlewood J, Hewison J. Screening for cystic fibrosis. Health Technol Assess 1999;3:i-iv, 1
89. Gason AA, Delatycki MB, Metcalfe SA, Aitken M. It's back to school for genetic screening. Eur J Hum Genet 2006;14:384-389
90. Ioannou L, Massie J, Lewis S, et al. Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools. Clin Genet 2010;78:21-31
91. Multhaupt-Buell TJ, Lovell A, Mills L, Stanford KE, Hopkin RJ. Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status. Genet Med 2007;9:101-107
92. Mitchell JJ, Capua A, Clow C, Scriver CR. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-Thalassemia disease carriers in high schools. Am J Hum Genet 1996;59:793-798
93. McClaren BJ, Metcalfe SA, Amor DJ, Aitken M, Massie J. A case for cystic fibrosis carrier testing in the general population. Med J Aust 2011;194:208-209
94. Hale JE, Parad RB, Comeau AM. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008;358:973-974
95. Castellani C, Picci L, Tamanini A, Girardi P, Rizzotti P, Assael BM. Association between carrier screening and incidence of cystic fibrosis. JAMA 2009;302:2573-2579
96. Sontag MK, Wagener JS, Accurso FJ, Sagel SD. Consistent incidence of cystic fibrosis in a long-Term newborn screen population [abstract]. Pediat Pulmonol 2008; 43:272 (Abstract A203
97. McClaren BJ, Metcalfe SA, Aitken M, Massie RJ, Ukoumunne OC, Amor DJ. Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. Eur J Hum Genet 2010;18:1084-1089
98. Henneman L, Poppelaars FA, ten Kate LP. Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria. Genet Med 2002;4:241-249
99. Wald NJ, George L, Wald N, MacKenzie IZ. Further observations in connection with couple screening for cystic fibrosis. Prenat Diagn 1995;15:589-590
100. Slostad J, Stein QP, Flanagan JD, Hansen KA. Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic. Fertil Steril 2007;88:1687-1688
101. Mélançon MJ, De Braekeleer M. Adolescents' attitude towards carrier testing for cystic fibrosis. Eur J Hum Genet 1996;4:305-306
102. Coiana A, Faá V, Carta D, Puddu R, Cao A, Rosatelli MC. Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program. J Cyst Fibros 2011;10:207-211
103. Donaldson C, Shackley P, Abdalla M, Miedzybrodzka Z. Willingness to pay for antenatal carrier screening for cystic fibrosis. Health Econ 1995;4:439-452
104. Sparbel KJH. Cystic fibrosis carrier testing decision-making for women in primary care: Role of context. Nurs Health Sci 2007;9:234
105. O'Connor BV, Cappelli M. Health beliefs and the intent to use predictive genetic testing for cystic fibrosis carrier status. Psychol Health Med 1999;4:157-169