Perception of genomic newborn screening among peripartum mothers

• Published in: European journal of human genetics : EJHG 2024-02, Vol.32 (2), p.163-170
• Main Authors: Prosenc, Bernarda, Cizek Sajko, Mojca, Kavsek, Gorazd, Herzog, Marusa, Peterlin, Borut
• Format: Article
• Language: English
• Subjects: Education; Genetic screening; Genomics; Medical screening
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/s41431-023-01497-4

Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening (gNBS). However, before the implementation of gNBS, it is crucial to address various aspects, including parental attitudes, at the national level. With this aim, we analyzed the attitudes and expectations of Slovenian peripartum mothers regarding gNBS and the acceptability of its implementation into the Slovenian health system. A questionnaire-based study was conducted on a convenience sample of 1136 peripartum mothers (a response rate of 84.1%) in a hospital setting in Slovenia. We measured participants' level of general genetic knowledge, motivation to undergo gNBS, attitude toward its benefits and drawbacks, willingness to participate financially, and factors that would influence their decision to undergo gNBS. Most participants exhibited a positive attitude (83.2%) and were motivated to undertake gNBS (63.4%). They were willing to share genetic data and also contribute to the testing costs. Mothers with better genetic literacy and higher education level, and those with the familial genetic testing experiences were more supportive of gNBS. However, several emotional and socio-ethical concerns were raised regarding how the genetic information would influence family and social life.