The Status of DNA‑Based Technologies in Newborn Screening
Newborn screening (NBS) is undergoing a period of rapid transformation as the advancement of DNA‑based technologies, and especially NGS, create opportunities to identify a wider range of treatable conditions earlier in life. A recent publication in the International Journal of Neonatal Screening by MRC Holland researchers Terence Diane Fabella, Joery den Hoed, and Jan Schouten, in collaboration with the Amsterdam UMC and the National Institute for Public Health and the Environment (RIVM), contributes valuable insights into this evolving field. Their work offers a timely examination of how emerging genomic tools are being implemented across screening programs and where gaps still remain.
The study presents a scoping review of 26 published investigations focused on multiplex, high‑throughput DNA‑based methods used both for primary newborn screening and for confirmatory testing. Through this systematic overview, the authors highlight the technologies most frequently applied in practice and assess the extent to which these approaches meet the practical demands of real‑world screening programs.
Several important themes emerge from the review:
- Turnaround time continues to be a significant barrier to the adoption of most genomic technologies.
- Ethical and economic considerations must be addressed before broad genomic integration becomes feasible.
- The complexity of variant interpretation poses persistent challenges in the implementation of these technologies.
digitalMLPA for newborn screening applications
MRC Holland is actively exploring how digitalMLPA can help overcome several of the issues highlighted in the review with several probemixes for newborn screening in development. Key features of digitalMLPA that make it suitable for screening purposes include:
- Comprehensive – multiple disorders covered in one reaction.
- Short turnaround time – from DNA to sequencer in <24 hours.
- Cost-effective – priced at ~€35 per sample.
- Targeted coverage of regions of interest – reduced chance of incidental findings.
- Careful selection of targets – only variants of known significance included.