Ashenden Alex J, Chowdhury Ayesha, Anastasi Lucy T, Lam Khoa, Rozek Tomas, Ranieri Enzo, Siu Carol Wai-Kwan, King Jovanka, Mas Emilie, Kassahn Karin S
Department of Biochemical Genetics, SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Department of Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Int J Neonatal Screen. 2024 Jun 21;10(3):42. doi: 10.3390/ijns10030042.
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.
自60多年前首次实施以来，新生儿筛查项目有了显著发展，其主要目标是在尽可能早的时间内检测出可治疗的疾病，以确保新生儿获得最佳治疗和预后。新技术推动了筛查项目的扩展，使其涵盖更多疾病。在当前时代，通过整合非靶向代谢组学和基因组学等组学技术，可进一步扩大筛查疾病的范围。基因组筛查可为新生儿期后的终身护理提供机会。要使基因组新生儿筛查有效并准备好常规应用，必须克服实施成本、公众可接受性和可扩展性等障碍。另一方面，代谢组学方法可深入了解疾病表型，并可用于识别已知和新型疾病生物标志物。鉴于代谢组学技术的最新进展以及包括全基因组测序在内的基因组学进展，互补的多组学方法相结合可能提供一个令人兴奋的机会，充分利用两种方法的优势并克服各自的局限性。本文介绍了这些技术，以及基于多组学的新生儿筛查研究的当前展望。
