Implementing population-based expanded carrier screening reporting couple results only: A mixed methods approach

Abstract

Genomic technologies now enable efficient and relatively inexpensive carrier screening for multiple (autosomal) recessive (AR) conditions simultaneously- called expanded carrier screening (ECS). ECS could be offered routinely to any couple who may want [further] children and inform their reproductive decision-making at a time where they could still change their reproductive plans. The aim of this PhD research was to investigate whether offering ECS to the general population adopting an approach where couple results only were reported would meet criteria for responsible implementation. I investigated the following elements: harms and benefits of offering ECS to the general population; clinical utility for reproductive decision-making; uptake and informed choice; and feasibility of test provision by non-genetics health professionals (HCPs). The unique aspect of this test offer is the approach to report couple results only, as opposed to reporting individual carrier states, and I explored this aspect in depth. I used a mixed methods methodological approach and the empirical research was split in two phases. Phase 1 was a implementation pilot study where trained general practitioners (GPs) offered a couple-based ECS test consisting of 50 severe AR conditions to the general population. Uptake, feasibility, informed-choice and psychological outcomes were investigated using longitudinal quantitative surveys (couples) and semi-structured interviews (GPs). Phase 2 was a qualitative study using focus groups and interviews in the fertility clinic to explore couples’ and health professionals’ (HCPs) views regarding and experiences of offering a couple-based ECS test in more detail. In Phase 1, I found that approximately 15% of the eligible population accepted the test offer within approximately one month. Most participants made an informed choice to undergo ECS testing and there were no indications that the test offer is associated with negative psychological outcomes in this population. Test provision by motivated and trained GPs was feasible. Participants were satisfied with receiving couple results. Phase 2 findings demonstrate that both HCPs and couples struggled with the concept of reporting couple results only, as individual carrier states were perceived as useful for reproductive decisions in some situations. HCPs appreciated the limited clinical utility of reporting individual results, although some were unsure about their responsibilities towards gamete donors, where there is a discrepancy between the social and genetic “couple”. This research demonstrates that introducing couple-based ECS to the general population by nongenetics health professionals could be such a responsible approach. My research did not suggest any significant harms of offering this type of testing in an implementation pilot setting. The next step to evaluate ECS to couples from the general population should be a large-scale nation-wide study to address the current gaps in knowledge, including longer term societal impact of an ECS routine test offer, and follow-up of carrier couples. If the purpose of an ECS test offer to couples from the general population is to inform couples’ reproductive decisions and enable meaningful reproductive options, a test offer focused on a limited set of severe AR conditions and generated as couple results is justified.

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ORCID for Anneke Lucassen: orcid.org/0000-0003-3324-4338

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