What is at stake in genetic newborn screening for rare diseases? – An exploratory qualitative study of parents’ and expectant parents’ concerns in the Screen4Care project

Background: The diagnostic journey for rare diseases (RDs) often involves lengthy delays and significant burdens on patients and their family. Genetic newborn screening (NBS) for RDs offers a potential opportunity for early diagnosis and treatment. Aims: This study explores factors influencing parental decisions regarding genetic NBS for RDs participation in two European countries (Italy and Germany). Methods: This mixed methods qualitative study is composed of focus group discussions and ranking exercises. It was conducted with parents seeking genetic testing (n=5) and expecting parents from the general population (n=11). All participants were recruited in spring 2024 in Germany, and winter 2024 in Italy via clinical centers contact from genetic centers and obstetric services. Thematic analysis was performed by two independent coders to identify main themes and sub-themes. Results: Three key themes were constructed: 1) the complexity of the decision-making process, 2) the importance of certainty and disease characteristics, and 3) the anticipation of negative consequences. Participants trusted healthcare professionals to guide their decisions, meanwhile emphasized the need for extensive education and comprehensive support systems. Concerns about test accuracy, potential psychological impact of uncertain or positive results, and anticipated social implications were also reported. Conclusion: These findings highlight the nuanced considerations surrounding genetic NBS for RDs implementation and the necessity of addressing parental experiences in clinical practice and policy development. Participants emphasized the importance of accessible education and clear communication, support of trusted healthcare professional, and ethical reflection are essential for the equitable integration of genetic NBS into newborn care.