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Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

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Abstract

Recent technological developments in molecular genetics facilitate the large-scale detection of inherited genetic disorders and allow an increasing number of genetic conditions to be screened for (American College of Medical Genetics 2012). This technological evolution creates the background which makes reflection necessary about the desirability to offer community-based (preconception) carrier screening in the healthcare system. A positive attitude of potential providers is vital to the success of a screening program. Therefore, the objective of this article is to elaborate a review of the attitudes of healthcare professionals toward carrier screening. Examination of existing carrier screening programs could provide such information. The literature review will be focused on the attitudes toward carrier screening for cystic fibrosis (CF). The databases Pubmed and Web of Science, as well as the interface Google Scholar, were searched using the keywords for the period 1990–2011. Studies were selected if they were published in a peer-reviewed journal in English and described the attitudes of potential providers toward carrier screening. Eleven studies were retrieved describing the attitudes toward carrier screening for CF. In total, seven studies reported attitudes toward the best time for carrier screening; four studies described opinions toward the best setting to offer CF carrier screening; six studies investigated the willingness to be involved in a carrier screening program, and in total 11 articles reported the concerns about offering carrier screening. Ten papers described a general attitude toward carrier screening. We can conclude that health care providers state willingness to be involved in a carrier screening program, but there is need for appropriate education as well as adequate support given the time constraints already present in consultation. The prospect of an increasing number of genetic disorders for which screening becomes possible, and the potential increasing demand for such screening in the future calls for the need for further debate on the desirability of carrier screening and relevant questions such as the conditions screened, the providers involved, the information provision, and counseling.

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References

  • ACMG The American College of Medical Genetics (2012) Points to Consider in the Clinical Application of Genomic Sequencing. Policy Statement. Available at: http://www.acmg.net/AM/Template.cfm?Section=Policy_Statements&Template=/CM/HTMLDisplay.cfm&ContentID=6979

  • ACOG The American College of Obstetricians an Gynecologists (2005) Update on carrier screening for cystic fibrosis. Committee Opinion No. 325. Obstet Gynecol 106:1465–1468

    Article  Google Scholar 

  • ACOG The American College of Obstetricians an Gynecologists (2011) Update on carrier screening for cystic fibrosis. Committee Opinion No. 486. Obstet Gynecol 117:1028–1031

    Article  Google Scholar 

  • Andermann A, Blancquaert I, Beauchamp S, Dery V (2008) Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40years. Bull World Health Organ 86:317–9

    Article  PubMed Central  PubMed  Google Scholar 

  • Angastiniotis M, Kyriakidou S, Hadjiminas M (1988) The Cyprus thalassemia control program. Birth Defects Orig Artic Ser 23:417–32

    CAS  PubMed  Google Scholar 

  • Angastiniotis MA, Hadjiminas MG (1981) Prevention of thalassaemia in Cyprus. Lancet 1:369–71

    Article  CAS  PubMed  Google Scholar 

  • Axworthy D, Brock DJ, Bobrow M, Marteau TM (1996) Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK cystic fibrosis follow-up study group. Lancet 347:1443–6

    Article  CAS  PubMed  Google Scholar 

  • Baars MJ, Henneman L, ten Kate LP (2004) Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in The Netherlands. Genet Test 8:431–6

    Article  PubMed  Google Scholar 

  • Barlow-Stewart K, Burnett L, Proos A, Howell V, Huq F, Lazarus R, Aizenberg H (2003) A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 40:e45

    Article  CAS  PubMed  Google Scholar 

  • Bekker H, Denniss G, Modell M, Bobrow M, Marteau T (1994) The impact of population based screening for carriers of cystic fibrosis. J Med Genet 31:364–8

    Article  CAS  PubMed  Google Scholar 

  • Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T (1993) Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ 306:1584–6

    Article  CAS  PubMed  Google Scholar 

  • Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:69–82

    Article  Google Scholar 

  • Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC (2011) Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26:972–7

    Article  PubMed  Google Scholar 

  • Boulton M, Cummings C, Williamson R (1996) The views of general practitioners on community carrier screening for cystic fibrosis. Br J Gen Pract 46:299–301

    CAS  PubMed Central  PubMed  Google Scholar 

  • Boulton M, Williamson R (1995) General practice and new genetics: what do general practitioners know about community carrier screening for cystic fibrosis? Public Understand Sci 4:255–267

    Article  Google Scholar 

  • Bruni T, Mameli M, Pravettoni G, Boniolo G (2012) Cystic fibrosis carrier screening in Veneto (Italy): an ethical analysis. Med Health Care Philos 15:321–8

    Article  PubMed  Google Scholar 

  • Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kaariainen H, Kruip S, Morris M, Pignatti PF, Pypops U, Schwarz M, Soller M, Stuhrman M, Cuppens H (2010) Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 9:165–78

    Article  PubMed  Google Scholar 

  • Childs B, Gordis L, Kaback MM, Kazazian HH Jr (1976) Tay-Sachs screening: social and psychological impact. Am J Hum Genet 28:550–8

    CAS  PubMed Central  PubMed  Google Scholar 

  • Darcy D, Tian L, Taylor J, Schrijver I (2011) Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers 15:517–23

    Article  PubMed  Google Scholar 

  • Delatycki MB (2008) Population screening for reproductive risk for single gene disorders in Australia: now and the future. Twin Res Hum Genet 11:422–30

    Article  PubMed  Google Scholar 

  • Denayer L, Welkenhuysen M, Evers-Kiebooms G, Cassiman JJ, Van den Berghe H (1996) The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1year. Clin Genet 49:232–6

    Article  CAS  PubMed  Google Scholar 

  • Faden RR, Tambor ES, Chase GA, Geller G, Hofman KJ, Holtzman NA (1994) Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening. Am J Med Genet 50:1–11

    Article  CAS  PubMed  Google Scholar 

  • Frumkin A, Zlotogora J (2008) Genetic screening for reproductive purposes at school: is it a good strategy? Am J Med Genet A 146A:264–9

    Article  PubMed  Google Scholar 

  • Gason AA, Metcalfe SA, Delatycki MB, Petrou V, Sheffield E, Bankier A, Aitken M (2005) Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling. Genet Med 7:626–32

    Article  PubMed  Google Scholar 

  • Gilani AI, Jadoon AS, Qaiser R, Nasim S, Meraj R, Nasir N, Naqvi FF, Latif Z, Memon MA, Menezes EV, Malik I, Memon MZ, Kazim SF, Ahmad U (2007) Attitudes towards genetic diagnosis in Pakistan: a survey of medical and legal communities and parents of thalassemic children. Community Genet 10:140–6

    Article  PubMed  Google Scholar 

  • Giordano PC, Plancke A, Van Meir CA, Janssen CA, Kok PJ, Van Rooijen-Nijdam IH, Tanis BC, van Huisseling JC, Versteegh FG (2006) Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenat Diagn 26:719–24

    Article  CAS  PubMed  Google Scholar 

  • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ, Subcommittee on Cystic Fibrosis Screening AoGSCAACoMG (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149–154

    Article  CAS  PubMed  Google Scholar 

  • Hartley NE, Scotcher D, Harris H, Williamson P, Wallace A, Craufurd D, Harris R (1997) The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. J Med Genet 34:459–64

    Article  CAS  PubMed  Google Scholar 

  • Henneman L, Bramsen I, van der Ploeg HM, Ader HJ, van der Horst HE, Gille JJ, ten Kate LP (2001) Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. J Med Genet 38:695–703

    Article  CAS  PubMed  Google Scholar 

  • Henneman L, Bramsen I, van Kempen L, van Acker MB, Pals G, van der Horst HE, Ader HJ, van der Ploeg HM, ten Kate LP (2003) Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet 6:5–13

    Article  PubMed  Google Scholar 

  • Henneman L, Poppelaars FA, ten Kate LP (2002) Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria. Genet Med 4:241–9

    Article  PubMed  Google Scholar 

  • Hock KT, Christensen KD, Yashar BM, Roberts JS, Gollust SE, Uhlmann WR (2011) Direct-to-consumer genetic testing: an assessment of genetic counselors' knowledge and beliefs. Genet Med 13:325–32

    Article  PubMed Central  PubMed  Google Scholar 

  • Howard HBP (2008) Direct-to-consumer genetic testing: more questions than benefits? Personalised Medicine 5:317–20

    Article  Google Scholar 

  • Howard HC, Borry P (2012) To ban or not to ban? Clinical geneticists' views on the regulation of direct-to-consumer genetic testing. EMBO Rep 13:791–4

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Human Genetics Commission (2011) Increasing options, informing choice: A report on preconception genetic testing and screening. Available at: http://www.hgc.gov.uk/Client/document.asp?DocId=315

  • Ioannou L, Massie J, Lewis S, Petrou V, Gason A, Metcalfe S, Aitken MA, Bankier A, Delatycki MB (2010) Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools. Clin Genet 78:21–31

    Article  CAS  PubMed  Google Scholar 

  • Jackson L, Pyeritz RE (2011) Molecular technologies open new clinical genetic vistas. Sci Transl Med 3:22–25

    Article  CAS  Google Scholar 

  • Jans SM, de Jonge A, Henneman L, Cornel MC, Lagro-Janssen AL (2012) Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening. Eur J Hum Genet. doi:10.1038/ejhg.2012.72

  • Johnson K, Posner SF, Biermann J, Cordero JF, Atrash HK, Parker CS, Boulet S, Curtis MG, Group CAPCW, Select Panel on Preconception C (2006) Recommendations to improve preconception health and health care-United States. A report of the CDC/ATSDR Preconception care work group and the select panel on preconception care. MMWR Recomm Rep 55:1–23

    PubMed  Google Scholar 

  • Khoury MJ, McCabe LL, McCabe ER (2003) Population screening in the age of genomic medicine. N Engl J Med 348:50–8

    Article  CAS  PubMed  Google Scholar 

  • Kolor K, Liu T, St Pierre J, Khoury MJ (2009) Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet Med 11:595

    Article  PubMed  Google Scholar 

  • Lakeman P, Henneman L, Bezemer PD, Cornel MC, ten Kate LP (2006) Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society. Genet Med 8:502–9

    Article  PubMed  Google Scholar 

  • Lakeman P, Plass AM, Henneman L, Bezemer PD, Cornel MC, ten Kate LP (2008) Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in The Netherlands. Genet Med 10:820–30

    Article  CAS  PubMed  Google Scholar 

  • Lakeman P, Plass AM, Henneman L, Bezemer PD, Cornel MC, ten Kate LP (2009) Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? Eur J Hum Genet 17:999–1009

    Article  PubMed  Google Scholar 

  • Levenkron JC, Loader S, Rowley PT (1997) Carrier screening for cystic fibrosis: test acceptance and one year follow-up. Am J Med Genet 73:378–86

    Article  CAS  PubMed  Google Scholar 

  • Loader S, Caldwell P, Kozyra A, Levenkron JC, Boehm CD, Kazazian HH Jr, Rowley PT (1996) Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet 59:234–47

    CAS  PubMed Central  PubMed  Google Scholar 

  • McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M (2008) It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 16:435–444

    Article  PubMed  Google Scholar 

  • McQueen MJ (2002) Some ethical and design challenges of screening programs and screening tests. Clin Chim Acta 315:41–48

    Article  CAS  PubMed  Google Scholar 

  • Mennie M, Campbell H, Liston WA, Brock DJ (1998) Attitudes of general practitioners to screening for cystic fibrosis. J Med Screen 5:11–5

    Article  CAS  PubMed  Google Scholar 

  • Mennie ME, Compton ME, Gilfillan A, Liston WA, Pullen I, Whyte DA, Brock DJ (1993) Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. J Med Genet 30:543–8

    Article  CAS  PubMed  Google Scholar 

  • Metcalfe SA (2012) Carrier screening in preconception consultation in primary care. J Community Genet 3:193–203

    Article  PubMed Central  PubMed  Google Scholar 

  • Mitchell JJ, Capua A, Clow C, Scriver CR (1996) Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet 59:793–8

    CAS  PubMed Central  PubMed  Google Scholar 

  • Modra LJ, Massie RJ, Delatycki MB (2010) Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust 193:157–60

    PubMed  Google Scholar 

  • Moher D, Liberati A, Tetzlaff J, Altman DG, Group P (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. J Clin Epidemiol 62: 1006–12

    Google Scholar 

  • Morgan MA, Driscoll DA, Mennuti MT, Schulkin J (2004) Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genet Med 6:450–5

    Article  PubMed  Google Scholar 

  • Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT (2005) Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol 105:1355–61

    Article  PubMed  Google Scholar 

  • Morris JK (2004) Is cascade testing a sensible method of population screening? J Med Screen 11:57–58

    Article  CAS  PubMed  Google Scholar 

  • Morris JK, Law MR, Wald NJ (2004) Is cascade testing a sensible method of screening a population for autosomal recessive disorders? Am J Med Genet A 128A:271–275

    Article  CAS  PubMed  Google Scholar 

  • Ohata T, Tsuchiya A, Watanabe M, Sumida T, Takada F (2009) Physicians' opinion for 'new' genetic testing in Japan. J Hum Genet 54:203–208

    Article  PubMed  Google Scholar 

  • Ormond KE, Mills PL, Lester LA, Ross LF (2003) Effect of family history on disclosure patterns of cystic fibrosis carrier status. Am J Med Genet C Semin Med Genet 119C:70–77

    Article  PubMed  Google Scholar 

  • Payne Y, Williams M, Cheadle J, Stott NC, Rowlands M, Shickle D, West G, Meredith L, Goodchild M, Harper PS, Clarke A (1997) 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 51:153–163

    Article  CAS  PubMed  Google Scholar 

  • Poppelaars FA, Henneman L, Ader HJ, Cornel MC, Hermens RP, van der Wal G, ten Kate LP (2003a) How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genet 6:157–165

    Article  PubMed  Google Scholar 

  • Poppelaars FA, van der Wal G, Braspenning JC, Cornel MC, Henneman L, Langendam MW, ten Kate LP (2003b) Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study. Public Health 117:396–403

    Article  CAS  PubMed  Google Scholar 

  • Poppelaars FA, Ader HJ, Cornel MC, Henneman L, Hermens RP, van der Wal G, ten Kate LP (2004) Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. J Genet Couns 13:31–44

    Article  PubMed  Google Scholar 

  • Powell KP, Cogswell WA, Christianson CA, Dave G, Verma A, Eubanks S, Henrich VC (2012) Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing. J Genet Couns 21:113–126

    Article  PubMed  Google Scholar 

  • Qureshi N, Armstrong S, Modell B (2006) GPs' opinions of their role in prenatal genetic services: a cross-sectional survey. Fam Pract 23:106–110

    Article  PubMed  Google Scholar 

  • Radhakrishnan M, van Gool K, Hall J, Delatycki M, Massie J (2008) Economic evaluation of cystic fibrosis screening: a review of the literature. Health Policy 85:133–147

    Article  PubMed  Google Scholar 

  • Raeburn JA (1994) Screening for carriers of cystic fibrosis. Screening before pregnancy is needed. BMJ 309:1428–1429

    Article  CAS  PubMed  Google Scholar 

  • Ready K, Haque IS, Srinivasan BS, Marshall JR (2012) Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers. Fertil Steril 97:407–413

    Article  PubMed  Google Scholar 

  • Riskin-Mashiah S, Auslander R (2007) Preconception care–when and what: the attitude of Israeli gynaecologists to preconception counseling. Arch Gynecol Obstet 275:367–371

    Article  PubMed  Google Scholar 

  • Roberts T, Schwarz MJ, Kerr-Liddell R, Hinks JL, Super M (2003) Cascade carrier-testing in cystic fibrosis. Paediatr Respir Rev 4:293–298

    Article  PubMed  Google Scholar 

  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N et al (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059–1065

    Article  CAS  PubMed  Google Scholar 

  • Ross LF (2006) Heterozygote carrier testing in high schools abroad: what are the lessons for the U.S.? J Law Med Ethics 34:753–764

    Article  PubMed  Google Scholar 

  • Rowley PT, Loader S, Levenkron JC, Phelps CE (1993) Cystic fibrosis carrier screening: knowledge and attitudes of prenatal care providers. Am J Prev Med 9:261–266

    CAS  PubMed  Google Scholar 

  • Shickle D, May A (1989) Knowledge and perceptions of haemoglobinopathy carrier screening among general practitioners in Cardiff. J Med Genet 26:109–112

    Article  CAS  PubMed  Google Scholar 

  • Watson EK, Marchant J, Bush A, Williamson B (1992) Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic. J Med Genet 29:490–491

    CAS  PubMed  Google Scholar 

  • Watson EK, Williamson R, Chapple J (1991) 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 41:237–240

    CAS  PubMed Central  PubMed  Google Scholar 

  • Weinreich SS, de Lange-de Klerk ES, Rijmen F, Cornel MC, de Kinderen M, Plass AM (2009) Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in The Netherlands: a pilot study among the general public and primary care providers. BMC Publ Health 9:338. doi:10.1186/1471-2458-9-338

    Article  Google Scholar 

  • Verweij M (2008) Preconceptional CF screening and the problem of medicalisation. In: Lakeman P (ed) Preconceptional carrier couple screening for cystic fibrosis and hemoglobinopathies, An ancestry-based offer in a multi-ethnic society. Gildeprint drukkerijen en B.V., Enschede, Amsterdam, pp 265–271

    Google Scholar 

  • Wilson JMG, Jungner G (1968) Principles and practice of screening for disease. Geneva: World Health Organisation. Public Health Papers No.34 (No.34). Available at: http://apps.who.int/iris/bitstream/10665/37650/1/WHOPHP34.pdf

  • Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R (1996) Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 58:823–35

    CAS  PubMed Central  PubMed  Google Scholar 

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  1. Center for Medical Genetics Ghent, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium

    S. Janssens & A. De Paepe

  2. Center for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium

    P. Borry

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  1. S. Janssens
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Correspondence to S. Janssens.

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For special issue "Predictive Genetic Testing, Risk Communication and Risk Perception"

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Janssens, S., De Paepe, A. & Borry, P. Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature. J Community Genet 5, 13–29 (2014). https://doi.org/10.1007/s12687-012-0131-z

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