Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Table 1

Abstract

Background: Carrier screening for autosomal recessive disorders aims to facilitate reproductive decision-making by identifying couples with a 1-in-4 risk in every pregnancy of having an affected child. Except for a few countries or regions, carrier screening is not widely offered and is mostly ancestry-based. Technological advances enable carrier screening for multiple diseases simultaneously allowing universal screening regardless of ancestry (population-based expanded carrier screening). It is important to study how this can be successfully implemented. This study therefore aims to identify critical factors involved in successful implementation, from a user perspective, by learning from already implemented initiatives. Methods: Factors associated with successful implementation were identified by: (i) a literature review and (ii) two case studies; studying experiences with carrier screening in two high-risk communities (a Dutch founder population and the Ashkenazi Jewish population), including a survey among community members. Results: Factors identified were familiarity with (specific) genetic diseases and its availability, high perceived benefits of screening (e.g. screening avoids much suffering), acceptance of reproductive options, perceived risk of being a carrier and low perceived social barriers (e.g. stigmatization). In contrast to the Jewish community, the initial demand for screening in the Dutch founder population did not entirely come from the community itself. However, the large social cohesion of the community facilitated the implementation process. Conclusion: To ensure successful implementation of population-based expanded carrier screening, efforts should be made to increase knowledge about genetic diseases, create awareness and address personal benefits of screening in a non-directive way.

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening

“…It is well known that intentions to do a behaviour and actual participation are not always in alignment, and may be influenced by factors such as social barriers (eg, stigmatisation, discrimination), familiarity of diseases tested and awareness or perceived benefit 23. Consequently, tailored community education programmes addressing the issues identified in this study would be required to ensure individuals with different levels of genetic knowledge are sufficiently informed to make decisions regarding PCS testing.…”

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

“…In December 2014, a questionnaire (Q-non) was sent to 400 individuals of reproductive age (18-40 years) by two GPs to determine reasons for not making an appointment at the outpatient clinic among individuals eligible for carrier screening (i.e., those considering a pregnancy). Exclusion criteria were: suffering from cognitive impairment, being terminally ill, suffering from psychosocial problems, or having fertility problems [15].…”

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

“…These scales were based on previous research, where factors related to intended participation in PCS for cystic fibrosis were studied. 24 Perceived severity was measured with four items on a 5-point scale (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Respondents were asked how disturbing it would be to have a child with either severe pain, severe physical disability or severe intellectual disability, or who would die at a young age.…”

“…These factors were also mentioned in more recent studies and preconception carrier testing for other type of diseases. 13,14 However, it is still unknown if these factors will also be related to intended participation in ECS.…”