Journal of Community Genetics

, Volume 7, Issue 3, pp 203–214 | Cite as

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

  • A. MatarEmail author
  • U. Kihlbom
  • A. T. Höglund
Original Article


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.


Healthcare Professional Thalassemia Club Foot Genetic Screening Clinical Geneticist 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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.

Compliance with ethical standards


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.


  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 34:145–152CrossRefPubMedGoogle Scholar
  2. Borry P, Henneman L, Lakeman P et al (2011) Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26:972–977CrossRefPubMedPubMedCentralGoogle Scholar
  3. Burström B (2015) Sweden—recent changes in welfare state arrangements. Int J Health Serv 45(1):87–104PubMedGoogle Scholar
  4. Castellani C, Macek M, Cassiman JJ et al (2010) Benchmarks for cystic fibrosis carrier screening: a european consensus document. J Cyst Fibros 9:165–178CrossRefPubMedGoogle Scholar
  5. Cho D, Mcgowan ML, Metcalfe J, Sharp RR (2013) Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod 28:1725–1730CrossRefPubMedPubMedCentralGoogle Scholar
  6. Clarkeburn H (2000) Parental duties and untreatable genetic conditions. J Med Ethics 26:400–403CrossRefPubMedPubMedCentralGoogle Scholar
  7. De Wert GMWR, Dondorp WJ, Knoppers BM (2011) Preconception care and genetic risk: ethical issues. J Commun Genet 3:221–228CrossRefGoogle Scholar
  8. Edwards JG, Feldman G, Goldberg J et al (2015) Expanded carrier screening in reproductive medicine—points to consider. Obstet Gynecol 125:653–662CrossRefPubMedGoogle Scholar
  9. Eriksson S (2014) Forskningsetisk prövning. In: CODEX., &, Aug 2015
  10. Fredriksson M (2012) Between equity and local autonomy: a governance dilemma in swedish healthcare. Acta Universitatis Upsaliensis, UppsalaGoogle Scholar
  11. Graneheim U, Lundman B (2004) Qualitative content analysis in nursing research: concepts, procedures and measures to achieve trustworthiness. Nurse Educ Today 24:105–112CrossRefPubMedGoogle Scholar
  12. Grody WW, Thompson BH, Gregg AR et al (2013) ACMG position statement on prenatal/preconception expanded carrier screening. Obstet Gynecol Survey 15:785–787CrossRefGoogle Scholar
  13. Guest G, Bunce A, Johnson L (2006) How many interviews are enough?: an experiment with data saturation and variability. Field Methods 18:59–82CrossRefGoogle Scholar
  14. Health Council of the Netherlands (2007) Preconception care: a good beginning. The Hague: Health Council of the Netherlands. publication no. 2007/19E: 81–86Google Scholar
  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 MediaGoogle Scholar
  16. Kingsmore S (2012) Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases 4Google Scholar
  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 35:23–28CrossRefPubMedGoogle 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):2–5CrossRefPubMedGoogle Scholar
  19. Mcdougall R (2007) Parental virtue: a new way of thinking about the morality of reproductive actions. Bioethics 21:181–19CrossRefPubMedGoogle 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 16:539–550CrossRefGoogle 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 75:244–250CrossRefPubMedGoogle 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):1361–1369CrossRefPubMedGoogle 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 97:407–413CrossRefPubMedGoogle Scholar
  24. Savulescu J, Kahane G (2009) The moral obligation to create children with the best chance of the best life. Bioethics 23:274–290CrossRefPubMedGoogle 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.Google Scholar
  26. Scully JL (2008) Disability and genetics in the era of genomic medicine. Nat Rev Genet 9:797–802CrossRefPubMedGoogle 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. 2015
  28. University Medical Center Groningen (2015) Research lines. In: PCS pilot study: Preconception screening of couples wishing to start a family. 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 25:451–457CrossRefGoogle 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–S5PubMedPubMedCentralGoogle Scholar
  31. Wasserman D (2005) The nonidentity problem, disability, and the role morality of prospective parents. Ethics 116:132–152CrossRefPubMedGoogle Scholar
  32. Wilfond BS, Nolan K (1993) National policy development for the clinical application of genetic diagnostic technologies. JAMA 270:2948–2948CrossRefPubMedGoogle Scholar
  33. World Medical Association (2013) World medical association declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA 310:2191–2191CrossRefGoogle Scholar
  34. Zlotogora J (2009) Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 126:247–253CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Center for Research Ethics and Bioethics, Department of Public Health and Caring SciencesUppsala UniversityUppsalaSweden

Personalised recommendations