Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jul 30;11(8):926.
doi: 10.3390/children11080926.

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium

Tamara Dangouloff  1 , Kristine Hovhannesyan  1 , Davood Mashhadizadeh  1 , Frederic Minner  2 , Myriam Mni  2 , Laura Helou  2 , Flavia Piazzon  1 , Leonor Palmeira  2 , François Boemer  2 , Laurent Servais  1   3
Affiliations

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium

Tamara Dangouloff et al. Children (Basel). .

Abstract

Purpose: Genomic newborn screening programs are emerging worldwide. With the support of the local pediatric team of Liege, Belgium, we developed a panel of 405 genes that are associated with 165 early-onset, treatable diseases with the goal of creating a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions.

Methods: A process was developed that informed the future parents about the project and collected their consent during a face-to-face discussion with a trained investigator. The first baby was screened on 1 September 2022. The main objective of the study was to test the feasibility and the acceptability of targeted sequencing at birth as a first-tier newborn screening approach to detect treatable genetic conditions or genetic conditions for which a pre-symptomatic or early symptomatic clinical trial is available.

Results: As of 20 June 2024, the parents of 4425 children had been offered the test; 4005 accepted (90.5%) and 420 refused (9.5%). The main reasons for refusal were the research nature of the project and the misunderstanding of what constitutes genetic conditions.

Conclusions: These data demonstrate the high acceptability of genomic newborn screening in a properly informed population.

Keywords: genomic; newborn screening; targeted next-generation sequencing; treatable disease.

PubMed Disclaimer

Conflict of interest statement

K. Hovhannesyan, D. Mashhadizadeh, M. Mni, F. Minner, L. Helou, F. Piazzon, and L. Palmeira declare no conflicts of interest. T. Dangouloff has given lectures sponsored by Biogen and Roche. F. Boemer has provided consultancy to Zentech, LaCAR MDx. and lectures for Novartis and Sanofi. L. Servais has undertaken consultancy and attended the board of Zentech and Illumina. Outside the scope of the paper, has undertaken consultancy and attended the board for Roche, Biogen, Novartis, Scholar Rock, BioHaven, Pfizer, PTC, Dyne, Wave, Biomarin, Myostana, MetrioPharma, Astellas, Sanofi, Sysnav, and RegenexBio.

Figures

Figure 1
Figure 1
Flowchart of information presentation, consent, and testing during Baby Detect pilot.
See this image and copyright information in PMC

References

    1. Wilson J.M.G., Jungner G. Principles and Practice of Screening for Disease. Volume 34. World Health Organization; Geneva, Switzerland: 1968. pp. 11–13. Public Health Paper;
    1. Loeber J.G., Platis D., Zetterström R.H., Almashanu S., Boemer F., Bonham J.R., Borde P., Brincat I., Cheillan D., Dekkers E., et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int. J. Neonatal Screen. 2021;7:15. doi: 10.3390/ijns7010015. - DOI - PMC - PubMed
    1. van der Spek J., Groenwold R.H.H., van der Burg M., van Montfrans J.M. TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. J. Clin. Immunol. 2015;35:416–430. doi: 10.1007/s10875-015-0152-6. - DOI - PMC - PubMed
    1. Dangouloff T., Vrščaj E., Servais L., Osredkar D., Adoukonou T., Aryani O., Barisic N., Bashiri F., Bastaki L., Benitto A., et al. Newborn Screening Programs for Spinal Muscular Atrophy Worldwide: Where We Stand and Where to Go. Neuromuscul. Disord. 2021;31:574–582. doi: 10.1016/j.nmd.2021.03.007. - DOI - PubMed
    1. McMillan H.J., Kernohan K.D., Yeh E., Amburgey K., Boyd J., Campbell C., Dowling J.J., Gonorazky H., Marcadier J., Tarnopolsky M.A., et al. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations. Can. J. Neurol. Sci. J. Can. Des Sci. Neurol. 2021;48:504–511. doi: 10.1017/cjn.2020.229. - DOI - PubMed