Attitudes of European Geneticists Regarding Expanded Carrier Screening

JOGNN - Journal of Obstetric, Gynecologic, and Neonatal Nursing

Volumn 46, Issue 1, 2017, Pages 63-71

  Janssens, Sandra ^a   Chokoshvili, Davit ^a   Vears, Danya ^a   De Paepe, Anne ^a   Borry, Pascal ^a  

^a NONE

Author keywords

attitudes; carrier screening; ethics; qualitative research; recessive disorders

Indexed keywords

CAUCASIAN; EUROPE; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HEALTH PERSONNEL ATTITUDE; HETEROZYGOTE DETECTION; HUMAN; STANDARDS;

ATTITUDE OF HEALTH PERSONNEL; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC CARRIER SCREENING; GENETIC COUNSELING; GENETIC TESTING; HUMANS;

EID: 85007489774     PISSN: 08842175     EISSN: 15526909     Source Type: Journal    
DOI: 10.1016/j.jogn.2016.08.012     Document Type: Article

References (43)

1. Baars, M.J., Henneman, L., ten Kate, L.P., Preconceptional cystic fibrosis carrier screening: Opinions of general practitioners, gynecologists, and pediatricians in the Netherlands. Genetic Testing 8:4 (2004), 431–436, 10.1089/gte.2004.8.431.
2. Bailey, D.B., Lewis, M.A., Roche, M., Powell, C.M., Family relations in the genomic era: Communicating about intergenerational transmission of risk for disability. Family Relations 63:1 (2014), 85–100, 10.1111/fare.12054.
3. Bajaj, K., Gross, S., Carrier screening: Past, present, and future. Journal of Clinical Medicine 3:3 (2014), 1033–1042, 10.3390/jcm3031033.
4. Bell, C.J., Dinwiddie, D.L., Miller, N.A., Hateley, S.L., Ganusova, E.E., Mudge, J.,.. Kingsmore, S.F., Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science Translational Medicine, 3(65), 2011, 65ra64, 10.1126/scitranslmed.3001756.
5. Benn, P., Chapman, A.R., Erickson, K., Defrancesco, M.S., Wilkins-Haug, L., Egan, J.F., Schulkin, J., Obstetricians and gynecologists’ practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenatal Diagnosis 34:2 (2014), 145–152, 10.1002/pd.4272.
6. Bruni, T., Mameli, M., Pravettoni, G., Boniolo, G., Cystic fibrosis carrier screening in Veneto (Italy): An ethical analysis. Medicine, Health Care and Philosophy 15:3 (2012), 321–328, 10.1007/s11019-011-9347-7.
7. Castellani, C., Picci, L., Tridello, G., Casati, E., Tamanini, A., Bartoloni, L.,.. Veneto, C.F.L.N., Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genetics in Medicine 18:2 (2015), 145–151, 10.1038/gim.2015.68.
8. Cho, D., McGowan, M.L., Metcalfe, J., Sharp, R.R., Expanded carrier screening in reproductive healthcare: Perspectives from genetics professionals. Human Reproduction 28:6 (2013), 1725–1730, 10.1093/humrep/det091.
9. Cousens, N.E., Gaff, C.L., Metcalfe, S.A., Delatycki, M.B., Carrier screening for beta-thalassaemia: A review of international practice. European Journal of Human Genetics 18:10 (2010), 1077–1083, 10.1038/ejhg.2010.90.
10. De Wert, G.M., Dondorp, W.J., Knoppers, B.M., Preconception care and genetic risk: Ethical issues. Journal of Community Genetics 3:3 (2012), 221–228, 10.1007/s12687-011-0074-9.
11. De Wert, G., Dondorp, W., Pennings, G., Shenfield, F., Devroey, P., Tarlatzis, B.,.. Diedrich, K., ESHRE Task Force on Ethics and Law: Intrafamilial medically assisted reproduction. Human Reproduction 26 (2011), 504–509, 10.1093/humreo.deq383.
12. Downe-Wamboldt, B., Content analysis: Method, applications, and issues. Health Care for Women International 13:3 (1992), 313–321, 10.1080/07399339209516006.
13. Edwards, J.G., Feldman, G., Goldberg, J., Gregg, A.R., Norton, M.E., Rose, N.C.,.. Watson, M.S., Expanded carrier screening in reproductive medicine-points to consider: A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstetrics & Gynecology 125:3 (2015), 653–662, 10.1097/AOG.0000000000000666.
14. Ferreira, J.C., Schreiber-Agus, N., Carter, S.M., Klugman, S., Gregg, A.R., Gross, S.J., Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: Navigating the genetic maze. American Journal of Obstetrics & Gynecology 211:3 (2014), 197–204, 10.1016/j.ajog.2014.02.001.
15. Graneheim, U.H., Lundman, B., Qualitative content analysis in nursing research: Concepts, procedures and measures to achieve trustworthiness. Nurse Education Today 24:2 (2004), 105–112, 10.1016/j.nedt.2003.10.001.
16. Health Council of the Netherlands. Genetic screening. 1994 Retrieved from https://www.gezondheidsraad.nl/en/task-and-procedure/areas-of-activity/optimum-healthcare/genetic-screening.
17. Henneman, L., Borry, P., Chokoshvili, D., Cornel, M.C., van El, C.G., Forzano, F.,.. Peterlin, B., Responsible implementation of expanded carrier screening. European Journal of Human Genetics 24:6 (2016), e1–e12, 10.1038/ejhg.2015.271.
18. Henneman, L., Bramsen, I., Van Os, T.A., Reuling, I.E., Heyerman, H.G., van der Laag, J.,.. ten Kate, L.P., Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenatal Diagnosis 21:1 (2001), 1–9, 10.1002/1097-0223(200101)21:1<1::AID-PD967>3.0.CO;2-#.
19. Henneman, L., ten Kate, L.P., Preconceptional couple screening for cystic fibrosis carrier status: Couples prefer full disclosure of test results. Journal of Medical Genetics, 39(5), 2002, E26.
20. Hietala, M., Hakonen, A., Aro, A.R., Niemela, P., Peltonen, L., Aula, P., Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: A survey from Finland. American Journal of Human Genetics 56:6 (1995), 1493–1500.
21. Higgins, A., Flanagan, J., Von Wald, T., Hansen, K.A., An expanded carrier screening tool enhances preconception cystic fibrosis screening in infertile couples. Open Journal of Obstetrics and Gynecology, 5(7), 2015, 412, 10.4236/ojog.2015.57059.
22. Janssens, S., Chokoshvilli, D., Binst, C., Mahieu, I., Henneman, L., De Paepe, A., Borry, P., Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues. European Journal of Human Genetics 24:4 (2015), 506–512, 10.1038/ejhg.2015.160.
23. Kaback, M.M., Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model. European Journal of Pediatrics 159:Suppl 3 (2000), S192–S195, 10.1007/PL00014401.
24. Kingsmore, S., Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLOS Currents, 2012, 10.1371/4f9877ab8ffa9 e4f9877ab9878ffa9879.
25. Langlois, S., Benn, P., Wilkins-Haug, L., Current controversies in prenatal diagnosis 4: Pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. Prenatal Diagnosis 35:1 (2015), 23–28, 10.1002/pd.4532.
26. Lazarin, G.A., Haque, I.S., Nazareth, S., Iori, K., Patterson, A.S., Jacobson, J.L.,.. Srinivasan, B.S., An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine 15:3 (2012), 178–186, 10.1038/gim.2012.114.
27. Liamputtong, P., Ezzy, D., Qualitative research methods. 2005, Oxford University Press, Oxford, UK.
28. McGowan, M.L., Cho, D., Sharp, R.R., The changing landscape of carrier screening: Expanding technology and options?. Health Matrix (Cleveland, Ohio: 1991) 23:1 (2013), 15–33.
29. Metcalfe, S.A., Carrier screening in preconception consultation in primary care. Journal of Community Genetics 3:3 (2012), 193–203, 10.1007/s12687-011-0071-z.
30. Mosconi, P., Castellani, C., Villani, W., Satolli, R., Cystic fibrosis: To screen or not to screen? Involving a Citizens’ jury in decisions on screening carrier. Health Expectations 18:6 (2014), 1956–1967, 10.1111/hex.12261.
31. Popay, J., Rogers, A., Williams, G., Rationale and standards for the systematic review of qualitative literature in health services research. Qualitative Health Research 8:3 (1998), 341–351, 10.1177/104973239800800305.
32. Poppelaars, F.A., van der Wal, G., Braspenning, J.C., Cornel, M.C., Henneman, L., Langendam, M.W., ten Kate, L.P., Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: A focus group study. Public Health 117:6 (2003), 396–403, 10.1016/S0033-3506(03)00136-7.
33. Raz, A.E., Disability rights, prenatal diagnosis and eugenics: A cross-cultural view. Journal of Genetic Counseling 14:3 (2005), 183–187, 10.1007/s10897-005-0573-0.
34. Ready, K., Haque, I.S., Srinivasan, B.S., Marshall, J.R., Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers. Fertility and Sterility 97:2 (2012), 407–413, 10.1016/j.fertnstert.2011.11.007.
35. Ropers, H.H., On the future of genetic risk assessment. Journal of Community Genetics 3:3 (2012), 229–236, 10.1007/s12687-012-0092-2.
36. Schamber, L., Time-line interviews and inductive content analysis: Their effectiveness for exploring cognitive behaviors. Journal of the American Society for Information science 51:8 (2000), 734–744, 10.1002/(Sici)1097-4571(2000)51:8<734::Aid-Asi60>3.0.Co;2–3.
37. Skirton, H., Direct to consumer testing in reproductive contexts—Should health professionals be concerned?. Life Sciences, Society and Policy, 11, 2015, 4, 10.1186/s40504-014-0018-3.
38. Srinivasan, B.S., Evans, E.A., Flannick, J., Patterson, A.S., Chang, C.C., Pham, T.,.. Patrizio, P., A universal carrier test for the long tail of Mendelian disease. Reproductive Biomedicine Online 21:4 (2010), 537–551, 10.1016/j.rbmo.2010.05.012.
39. Stark, Z., Massie, J., McClaren, B., Ioannou, L., Cousens, N., Lewis, S.,.. Delatycki, M.B., Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions. Twin Research And Human Genetics 16:2 (2013), 601–607, 10.1017/thg.2012.152.
40. Stoll, K., Resta, R., Considering the cost of expanded carrier screening panels. Genetics in Medicine 15:4 (2013), 318–319, 10.1038/gim.2013.18.
41. Tanner, A.K., Valencia, C.A., Rhodenizer, D., Espirages, M., Da Silva, C., Borsuk, L.,.. Hegde, M., Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status. The Journal of Molecular Diagnostics 16:3 (2014), 350–360, 10.1016/j.jmoldx.2013.12.003.
42. Wienke, S., Brown, K., Farmer, M., Strange, C., Expanded carrier screening panels—Does bigger mean better?. Journal of Community Genetics 5:2 (2014), 191–198, 10.1007/s12687-013-0169-6.
43. Wilfond, B.S., Goddard, K.A., It's complicated: Criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Molecular Genetics & Genomic Medicine 3:4 (2015), 239–242, 10.1002/mgg3.130.