Population-based preconception expanded carrier screening for severe recessive disorders: Does a GP-provided test offer with couple results meet criteria for responsible implementation?

Schuurmans, J., Plantinga, M., Birnie, E., Abbott, K. M., Diemers, A. D., Van der Kolk, D. M., Van den Heuvel, L. M., Berger, M. Y., Verkerk, M., Fenwick, A., Ranchor, A. V., Lucassen, A. and Van Langen, I. M. (2020) Population-based preconception expanded carrier screening for severe recessive disorders: Does a GP-provided test offer with couple results meet criteria for responsible implementation? European Journal of Human Genetics, 28 (SUPPL 1), 153-153.

Abstract

Introduction: Expanded carrier screening (ECS) enables the identification of couples who are at increased risk of having children with recessive conditions. Based on preliminary research, we conducted a pilot study of GP-provided population-based preconception ECS (2016-2018) to evaluate whether this approach would meet criteria for responsible implementation as specified by Henneman et al., EJHG, 2016. The free test-offer consisted of 50 severe early-onset childhood conditions. Only couple-results were reported. We discuss key insights to guide large-scale implementation.

Methods: We used a mixed-methods approach. Trained GPs from nine practices invited their female patients (n = 4295, aged 18-40) and partners. We addressed uptake, feasibility (e.g. pre-test counselling possible within 20 minutes), informed-choice, psychological outcomes (e.g. anxiety, decisional conflict) and reproductive intentions using a longitudinal survey (couples) and semi-structured interviews (GPs).

Results: 190 couples were included. 130 (approximately 15% of the eligible population) accepted the test-offer within one month and attended pre-test counselling. 117 (90%) proceeded with testing. More than 90% of test-participants made an informed-choice. GPs felt confident to conduct counselling, although having to make a GP-appointment with both partners was a barrier. Most participants reported low anxiety and decisional conflict; this was relatively higher in test-offer decliners than acceptors.

Conclusions: Population-based preconception ECS for a specific set of severe conditions provided by motivated and trained GPs is feasible. We will discuss how responsible implementation can best be facilitated. The possibility of prenatal ECS, ECS to high-risk couples or which HCPs should offer this (e.g. midwives, fertility clinics) should now also be investigated.

This record has no associated files available for download.

Contributors

Author: A. Lucassen

Download statistics