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

• Published in: Journal of community genetics 2016-07, Vol.7 (3), p.203-214
• Main Authors: Matar, A., Kihlbom, U., Höglund, A. T.
• Format: Article
• Language: English
• Subjects: autonomy; Biomedical and Life Sciences; Biomedicine; Epidemiology; expanded carrier screening; Gene Function; Gene Therapy; Human Genetics; Original; Original Article; Public Health; reproductiion
• ISSN: 1868-310X; 1868-6001; 1868-6001
• DOI: 10.1007/s12687-016-0268-2

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.