Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions

Erwin Birnie,Juliette Schuurmans,Mirjam Plantinga,Kristin M Abbott,Angela Fenwick,Anneke Lucassen,Marjolein Y Berger,Irene M Van Langen,Adelita V Ranchor

doi:10.1038/s41436-021-01199-6

Abstract

PurposeThe aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population. MethodsDutch GPs invited 4,295 women aged 18–40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing. ResultsOne hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30–34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing. ConclusionSome individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.

Highlights

Advances in genomic technology enable relatively inexpensive and efficient carrier screening for multiple autosomal (AR) or Xlinked conditions simultaneously, i.e., expanded carrier screening (ECS).[1]
We previously reported that provision of the UMCG test by motivated and trained general practitioners (GPs) was feasible, that most participants made an informed decision to proceed with ECS, and approximately 15% of couples accepted this offer.[15,16]
One couple was excluded before GP counseling due to unexpected pregnancy

Summary

Introduction

Advances in genomic technology enable relatively inexpensive and efficient carrier screening for multiple (rare) autosomal (AR) or Xlinked conditions simultaneously, i.e., expanded carrier screening (ECS).[1]. Couple-based ECS is advantageous: ECS is offered to couples from the general population without a known prior risk of being a carrier of an AR condition, and the chances of being a carrier for a particular condition in the test are generally low. Only couple-based results have utility for reproductive decision making, whereas individual carrier states do not. Individual test results can invoke increased anxiety or worry, illness perceptions, and unnecessary resource use or physician workload.[5,6] couple-based ECS stimulates joint decision making and agreement on counseling and testing.[6] The prior probability of being a carrier couple for a condition included in this test in the Dutch general population is approximately 1 in 150.12

Methods

Results

Discussion

Conclusion