Ivy van Dijke, together with colleagues from department
of Human Genetics, section Community Genetics (VUmc) and the Center for
Reproductive Medicine (AMC), has used the AR&D Grant to conduct research into how new reproductive techniques can be implemented in a responsible way by exploring the perspectives of different stakeholders regarding preconception extended carrier screening (ECS), non-invasive prenatal diagnosis (NIPD) and germline gene editing (GGE), and the possible treatment with somatic gene editing (SGE), in relation to existing technologies (PGT and PND).

Professionals anticipate more availability and higher uptake of preconceptional expanded carrier screening (ECS) in the near future and fast implementation of non-invasive prenatal diagnosis (NIPD) and were reluctant regarding germline gene editing (GGE). The general public emphasized the importance of equal access to technology. Advances in genetics and reproductive technologies increase the possibilities for reproductive decision-making at different stages in determining a couple's risk of having a child with a genetic disorder. This would imply that more couples are informed of a high risk before pregnancy. NIPD is expected to become a routine diagnostic test in the near future. For GGE safety concerns are the main reason for reluctance in couples and public. Yet high-risk couples would favour GGE over SGE after birth, because of the perceived burden for their offspring.

Many stakeholders mention prerequisites for the responsible implementation of new genetic and reproductive technologies, including training of professionals according to the most recent insights, the organisation of sufficient and informed counselling practices, equal access to the available technologies, and reimbursement schemes.

Ivy van Dijke is the first AR&D doctoral student from the Alliance and will defence her thesis on July 1st 2022.