Abstract
Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven the expansion of screening programs to cover additional conditions. In the current era, the breadth of screened conditions could be further expanded by integrating omic technologies such as untargeted metabolomics and genomics. Genomic screening could offer opportunities for lifelong care beyond the newborn period. For genomic newborn screening to be effective and ready for routine adoption, it must overcome barriers such as implementation cost, public acceptability, and scalability. Metabolomics approaches, on the other hand, can offer insight into disease phenotypes and could be used to identify known and novel biomarkers of disease. Given recent advances in metabolomic technologies, alongside advances in genomics including whole-genome sequencing, the combination of complementary multi-omic approaches may provide an exciting opportunity to leverage the best of both approaches and overcome their respective limitations. These techniques are described, along with the current outlook on multi-omic-based NBS research.
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MDPI and ACS Style
Ashenden, A.J.; Chowdhury, A.; Anastasi, L.T.; Lam, K.; Rozek, T.; Ranieri, E.; Siu, C.W.-K.; King, J.; Mas, E.; Kassahn, K.S.
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. Int. J. Neonatal Screen. 2024, 10, 42.
https://doi.org/10.3390/ijns10030042
AMA Style
Ashenden AJ, Chowdhury A, Anastasi LT, Lam K, Rozek T, Ranieri E, Siu CW-K, King J, Mas E, Kassahn KS.
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. International Journal of Neonatal Screening. 2024; 10(3):42.
https://doi.org/10.3390/ijns10030042
Chicago/Turabian Style
Ashenden, Alex J., Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas, and Karin S. Kassahn.
2024. "The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges" International Journal of Neonatal Screening 10, no. 3: 42.
https://doi.org/10.3390/ijns10030042
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