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.

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

“…Though some respondents expected this to be an inevitable development, many expressed concerns: a lack of pre- and post-test counselling, and doubts about the quality of the test. These concerns have also been reported elsewhere [ 1 , 16 , 33 ], and already in 2010 policy on advertising and the provision of predictive genetic tests by so-called direct-to-consumer companies has been developed [ 39 ]. Without a clear structure within healthcare, commercial companies could potentially play a role in offering carrier screening, but the policy recommendations also apply [ 1 , 39 ].…”

“…Stakeholders in our study furthermore feared that EUCS might lead to the medicalisation of pregnancy and to eugenics. These particular dilemmas were also mentioned in a Swedish interview study among health professionals [ 33 ]. We, and others, have also described that rather than increasing equity of access, EUCS might hinder this when specific mutations for high-risk groups were not included in the screening panels [ 15 , 18 ].…”

“…In the Swedish interview study, stakeholders expressed concerns about the costs of expanded carrier screening and the effects of its implementation on the budgeting of other healthcare areas. They indicated that money could better be spent on more vital diseases such as cancer [ 33 ]. In the case of insufficient resources, it is necessary to determine which tests are most important to provide, bearing in mind that allocating healthcare resources fairly requires the use of ethically reflected criteria [ 34 ].…”

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

“…For the target population, this should also include investigation of likely uptake and postscreening decisions around reproductive choices. A recent study in the Netherlands has made initial contributions in the area of citizens/user perceptions of expanded carrier screening ( 51 ), while a qualitative study in Sweden has examined healthcare professionals’ views on preconception carrier screening ( 52 ). This line of work must be extended to further local contexts.…”

Autonomous decisions by couples in reproductive care

“…These concepts were reiterated in a study interviewing healthcare professionals in Sweden. Participants maintained that preconception ECS could enhance reproductive autonomy and reduce incidence of abortion [23]. Still, none of these articles elaborated on the role of the couple or the possibility of couple autonomy in reproductive decisions.…”