15- Patient associations for genetic conditions and prenatal cell-free DNA screening: how their knowledge can contribute to pregnant people’s preparedness

Prenatal cell-free DNA screening has enabled people to obtain genetic information on their fetuses earlier in pregnancy and for an increasing number of conditions than previous screening methods. However, there are growing concerns regarding the ability of healthcare systems to truly prepare people regarding such screening. Healthcare professionals should provide information about the conditions before screening and after a positive result. However, the information given may not align with what people want, as professionals tends to focus on medical information rather than fetuses’ future personal and home life. Patient association groups (PAG) are increasingly being solicited by pregnant people for information following prenatal screening results. To assess PAG’s perspectives about prenatal screening and its impact on their activities, we conducted semi-structured interviews with representatives of 13 Canadian PAGs. A majority felt that the growing demands put them in difficult ethical dilemmas. For example, while their role continues to be to share information on the lived experience of a condition, they wonder if they might not be objective enough to answer pregnant people’s questions. They also identified other ethical, technical and financial limits they face in light of these growing demands. The increasing number of prenatal screening tests performed during pregnancy is driving the need to find a sustainable solution to the aforementioned limits, and PAGs discussed the role they could play in training and collaborating with healthcare professionals. They highlighted a need for partnerships between the medical community and PAGs in efforts to enable informed pregnancies for all.