Population-based Expanded Carrier Screening reporting couple results only: a mixed methods approach

Fortunately, most children are born healthy. There is a small chance that if you are healthy yourself, your children will develop a genetic condition. Most of us are carriers of so-called recessive conditions without being aware of this. Approximately 1 in 150 couples are, by chance, both carriers of the same condition (=carrier couple). Only for carrier couples, the chances are increased of having children with this condition are increased. If couples are informed about their ‘couple-carrier’ status prior to conception, those who are identified as carrier-couples could consider alternative reproductive options such as in vitro fertilization with pre-implantation genetic diagnosis or prenatal testing (with possible termination of an affected pregnancy).
The UMCG developed and studied, as the first in the world, an expanded carrier screening (ECS) test for 50 severe genetic conditions. These conditions cannot be cured and have an onset in early childhood. The test can be offered prior to pregnancy and results are reported as carrier-couple results.
The aim of this PhD research was to investigate whether offering the UMCG test meets criteria for responsible implementation. We conducted a pilot study in the northern Netherlands and measured uptake, feasibility of a test-offer provided by general practitioners, and psychological outcomes. Additionally, the ethical and practical issues of offering ECS in a setting of assisted conception were explored.
This PhD research demonstrates that an offer of the UMCG ECS test, provided by trained GPs, can be a responsible approach. The results do not suggest any negative psychological outcomes. The approach to report couple-results only raises different ethical and practical issues in a setting of assisted conception compared to primary care, especially when donor gametes are used.