Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple‐based approach and examination of couples' views

Abstract

Background Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X‐linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple‐based ECS test‐offer for AR conditions, where results are offered as couple‐results only, and describe how couples view such an offer. Methods and results An online survey covering attitudes, perceived difficulty, and intention to take up couple‐based ECS was used to examine couples' views. Results show that in 76% of the participating couples there is no objection at all towards receiving couple‐results only. Most couples display similar views. Observed discrepancies usually involved one of the couple members having a positive view, whilst the other was neutral. Although views stayed strikingly stable after discussion, the partner's opinion was regarded as important in deciding whether or not to have testing. Conclusion This study shows that most couples do not object to receiving couple rather than individual ECS results, have similar views towards the offer, and are able to discuss differences in views and intentions.

Ethical issues in reproductive genetic carrier screening

“…Publicly funded population RCS globally is tending towards reporting couple‐based findings. Evidence suggests that participants understand and accept this approach and that it is feasible as a population screening model 5,13,16. Mackenzie's Mission participants will be informed when they both carry the same disease‐causing variant for an autosomal recessive condition, or when the genetic mother is found to carry one of the X‐linked conditions screened for.…”

“…Any potential for false reassurance can be carefully addressed during the pre‐ and post‐test education processes. Pragmatically, publicly funded RCS would be prohibitively expensive to offer if it reported individual carrier results, as the majority of individuals screened are likely to be a carrier for something 16. Each of these people would then need individual follow‐up, despite their future offspring having a very low chance of actually having that autosomal recessive condition, even if they were to re‐partner 17…”

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

“…The size of the gene panel also imposes potential technical constraints, in terms of the requirement to analyze and report large numbers of variants. For this study, the use of a couples-based approach to analysis, with autosomal variants reported only if both partners carry a variant that meets reporting criteria, means that the burden of analysis is markedly reduced compared with reporting individual variant information, removing this as a constraint on panel design [14,15]. A couples-based approach also greatly reduces the genetic counseling requirements for the study [16].…”

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review

“…To date, attention in the literature has centred on the attitudes of patients and families of those affected by genetic conditions, [3][4][5] hypothetical views of HCPs on whether screening should be offered 6 and the cost effectiveness of RGCS. 7,8 While these elements are important, they do not inform us about how to implement a RGCS programme.…”