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Perception of genomic newborn screening among peripartum mothers

European Journal of Human Genetics volume 32, pages 163–170 (2024)Cite this article

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Abstract

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.

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Fig. 1: Distributions of respondents’ answers.
Fig. 2: Distributions of respondents’ answers to five questions regarding the impact of genomic information from genomic newborn screening (gNBS) on their emotional and socio-ethical perceptions (higher score = higher agreement).
Fig. 3: Distributions of respondents’ answers to two multiple-choice questions.

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Data availability

The data that support the findings of this study are available upon request.

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Acknowledgements

The authors would like to thank Mr. Urh Prosenc for his help with editing/translating this paper. The authors also thank the nurses at the maternity wards for their help with surveying the mothers and all mothers for their participation in the study.

Funding

This study was a part of the project/program Gynecology and Reproduction: Genomics for Personalized Medicine and was financially supported by the Slovenian Research Agency (P3-0326).

Author information

Authors and Affiliations

  1. Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia

    Bernarda Prosenc, Mojca Cizek Sajko & Borut Peterlin

  2. Faculty of Health Sciences, University of Novo mesto, Novo mesto, Slovenia

    Bernarda Prosenc & Borut Peterlin

  3. Clinical Department of Perinatology, The Division of Gynaecology and Obstetrics, University Medical Center Ljubljana, Ljubljana, Slovenia

    Gorazd Kavsek & Marusa Herzog

Authors
  1. Bernarda Prosenc
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  5. Borut Peterlin
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Contributions

BoP and BeP conceived and designed the study. Data was acquired by BeP, GK, and MH, and analyzed by MCS, BoP, BeP, and M.C.S contributed to the interpretation of the results. BeP and MCS wrote the manuscript, while BoP, GK, and MH revised it critically. BoP, BeP, GK, MH, and MCS gave the final approval and are accountable for all aspects of the work.

Corresponding author

Correspondence to Borut Peterlin.

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Competing interests

The authors declare no competing interests.

Ethics approval

This study protocol was reviewed and approved by Medical Ethics Committee of the Republic of Slovenia (No. 0120-464/2020/5). Written information about the study was provided to those who expressed interest in taking part.

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Prosenc, B., Cizek Sajko, M., Kavsek, G. et al. Perception of genomic newborn screening among peripartum mothers. Eur J Hum Genet 32, 163–170 (2024). https://doi.org/10.1038/s41431-023-01497-4

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