Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study

Abstract

Reproductive autonomy, medicalization, and discrimination against disabled and parental responsibility are the main ongoing ethical debates concerning reproductive genetic screening. To examine Swedish healthcare professionals’ views on preconception expanded carrier screening (ECS), a qualitative study involving academic and clinical institutions in Sweden was conducted in September 2014 to February 2015. Eleven healthcare professionals including clinicians, geneticists, a midwife, and a genetic counselor were interviewed in depth using a semi-structured interview guide. The questionnaire was constructed after reviewing the main literature and meetings with relevant healthcare providers. The interviews were recorded, transcribed verbatim, and content analyzed for categories and subcategories. Participants nurtured many ethical and non-ethical concerns regarding preconception ECS. Among the ethical concerns were the potential for discrimination, medicalization, concerns with prioritization of healthcare resources, and effects on reproductive freedom. The effects of implementation of preconception ECS, its stakeholders, regulations, and motivation are some of non-ethical concerns. These concerns, if not addressed, may affect the uptake and usage of carrier screening within Swedish healthcare system. As this is a qualitative study with a small non-random sample size, the findings cannot be generalized. The participants had little to no working experience with expanded screening panels. Moreover, the interviews were conducted in English, a second language for the participants, which might have limited the expression of their views. However, the authors claim that the findings may be pertinent to similar settings in other Scandinavian countries.

This is a preview of subscription content, access via your institution.

References

  1. Benn P, Chapman AR, Erickson K et al (2013) Obstetricians and gynecologists’ practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenatal Diagnosis Prenat Diagn 34:145–152

    Article  PubMed  Google Scholar 

  2. Borry P, Henneman L, Lakeman P et al (2011) Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26:972–977

    Article  PubMed  PubMed Central  Google Scholar 

  3. Burström B (2015) Sweden—recent changes in welfare state arrangements. Int J Health Serv 45(1):87–104

    PubMed  Google Scholar 

  4. Castellani C, Macek M, Cassiman JJ et al (2010) Benchmarks for cystic fibrosis carrier screening: a european consensus document. J Cyst Fibros 9:165–178

    Article  PubMed  Google Scholar 

  5. Cho D, Mcgowan ML, Metcalfe J, Sharp RR (2013) Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod 28:1725–1730

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  6. Clarkeburn H (2000) Parental duties and untreatable genetic conditions. J Med Ethics 26:400–403

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  7. De Wert GMWR, Dondorp WJ, Knoppers BM (2011) Preconception care and genetic risk: ethical issues. J Commun Genet 3:221–228

    Article  Google Scholar 

  8. Edwards JG, Feldman G, Goldberg J et al (2015) Expanded carrier screening in reproductive medicine—points to consider. Obstet Gynecol 125:653–662

    Article  PubMed  Google Scholar 

  9. Eriksson S (2014) Forskningsetisk prövning. In: CODEX. http://www.codex.vr.se/manniska5.shtml, & http://www.epn.se/media/1205/the_ethical_review_act.pdf, Aug 2015

  10. Fredriksson M (2012) Between equity and local autonomy: a governance dilemma in swedish healthcare. Acta Universitatis Upsaliensis, Uppsala

    Google Scholar 

  11. Graneheim U, Lundman B (2004) Qualitative content analysis in nursing research: concepts, procedures and measures to achieve trustworthiness. Nurse Educ Today 24:105–112

    CAS  Article  PubMed  Google Scholar 

  12. Grody WW, Thompson BH, Gregg AR et al (2013) ACMG position statement on prenatal/preconception expanded carrier screening. Obstet Gynecol Survey 15:785–787

    Article  Google Scholar 

  13. Guest G, Bunce A, Johnson L (2006) How many interviews are enough?: an experiment with data saturation and variability. Field Methods 18:59–82

    Article  Google Scholar 

  14. Health Council of the Netherlands (2007) Preconception care: a good beginning. The Hague: Health Council of the Netherlands. publication no. 2007/19E: 81–86

  15. Juth N, Munthe C (2011) The ethics of screening in health care and medicine: serving society or serving the patient? (Vol. 51): Springer Science & Business Media

  16. Kingsmore S (2012) Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases 4

  17. Langlois S, Benn P, Wilkins-Haug L (2015) Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. Prenatal Diagnosis Prenat Diagn 35:23–28

    Article  PubMed  Google Scholar 

  18. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Yntema H (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24(1):2–5

    CAS  Article  PubMed  Google Scholar 

  19. Mcdougall R (2007) Parental virtue: a new way of thinking about the morality of reproductive actions. Bioethics 21:181–19

    Article  PubMed  Google Scholar 

  20. Ormond KE, Iris M, Banuvar S et al (2007) What do patients prefer: informed consent models for genetic carrier testing. J Genet Counsel 16:539–550

    CAS  Article  Google Scholar 

  21. Ormond KE, Banuvar S, Daly A et al (2009) Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening. Patient Educ Couns 75:244–250

    CAS  Article  PubMed  Google Scholar 

  22. Raz AE, Vizner Y (2008) Carrier matching and collective socialization in community genetics: Dor yeshorim and the reinforcement of stigma. Soc Sci Med 67(9):1361–1369

    Article  PubMed  Google Scholar 

  23. 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 

  24. Savulescu J, Kahane G (2009) The moral obligation to create children with the best chance of the best life. Bioethics 23:274–290

    Article  PubMed  Google Scholar 

  25. Schoen C, Santolaya-Forgas J, Genc M, Ashkinadze E (2014) Differential utilization of expanded genetic screening tests in patients of reproductive ages from private and academic practices.

  26. Scully JL (2008) Disability and genetics in the era of genomic medicine. Nat Rev Genet 9:797–802

    CAS  Article  PubMed  Google Scholar 

  27. The Ministry of Education and Cultural Affairs (2003) The act concerning the ethical review of research involving humans (2003:460). In: The ethical Review Act. http://www.epn.se/media/1205/the_ethical_review_act.pdf. 2015

  28. University Medical Center Groningen (2015) Research lines. In: PCS pilot study: Preconception screening of couples wishing to start a family. http://www.rug.nl/research/genetics/research/pcs-pilot-study?lang=en. Aug 2015

  29. Van Der Zee B, Beaufort ID (2011) Preconception care: a parenting protocol. A moral inquiry into the responsibilities of future parents towards their future children. Bioethics 25:451–457

    Article  Google Scholar 

  30. van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Scheffer H (2013) Whole-genome sequencing in health care. Eur J Hum Genet 21:S1–S5

    PubMed  PubMed Central  Google Scholar 

  31. Wasserman D (2005) The nonidentity problem, disability, and the role morality of prospective parents. Ethics 116:132–152

    Article  PubMed  Google Scholar 

  32. Wilfond BS, Nolan K (1993) National policy development for the clinical application of genetic diagnostic technologies. JAMA 270:2948–2948

    CAS  Article  PubMed  Google Scholar 

  33. World Medical Association (2013) World medical association declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA 310:2191–2191

    Article  Google Scholar 

  34. Zlotogora J (2009) Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 126:247–253

    Article  PubMed  Google Scholar 

Download references

Study funding and acknowledgments

This research was supported by Uppsala University, Sweden. The authors would like to extend their thanks to respondents who took time of their busy schedules to participate in the study.

Author’s roles

A. M.: main contributions to conception, design, acquisition of data, analysis, and interpretation of data; drafting the manuscript and revising it, and final approval of the version to be published.

U. K.: assist with the conception and design. Revising it critically for important intellectual content, and final approval of the version to be published.

A. T. H.: contributions to the design, assist with analysis and interpretation of data; revising it critically for important intellectual content, and final approval of the version to be published.

Author information

Affiliations

Authors

Corresponding author

Correspondence to A. Matar.

Ethics declarations

Funding

This research was funded by Uppsala University, Sweden.

Conflicts of interest

Author AM declares no conflict of interest. Author UK declares no conflict of interest. Author ATH declares no conflict of interest.

Ethical approval

This study involved human participants. All procedures were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Verbal informed consent was obtained from all individual participants included in the study.

This article does not contain any studies with animals performed by any of the authors.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Matar, A., Kihlbom, U. & Höglund, A.T. Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study. J Community Genet 7, 203–214 (2016). https://doi.org/10.1007/s12687-016-0268-2

Download citation

Keywords

  • Healthcare Professional
  • Thalassemia
  • Club Foot
  • Genetic Screening
  • Clinical Geneticist