Special Issue "State-of-the-Art in Newborn Screening"
Deadline for manuscript submissions: closed (15 August 2022) | Viewed by 734
Interests: public health genomics; genome projects; integratomics; neurogenetics; reproductive genetics; complex disorders
Newborn screening (NBS) is a highly effective public health measure which improves outcomes through the early identification of rare disorders and the early initiation of therapies. The establishment of infrastructure to universally and systematically collect dried blood spot (DBS) samples from all newborns and register them in a central laboratory has allowed the expansion of screening from just phenylketonuria to dozens of disorders. While the Wilson and Jungner criteria have guided this expansion, the development of new usable and affordable technologies has been a key driver. The last major NBS expansion occurred when public health laboratories adopted high-throughput tandem mass spectroscopy for the identification of heritable metabolic disorders. Until the addition of SCID and SMA to NBS panels, DNA was not used as a primary screening analyte; however, screening algorithms for these disorders do not depend on next-generation sequencing (NGS). The use of DNA for the second-tier evaluation of DBS after detecting an abnormal level of a first-tier biochemical analyte has been increasing since the early use of variant panels in cystic fibrosis NBS algorithms. With the improvement of the efficiency, cost, and accessibility of high-throughput sequencing and the automation of preliminary interpretation, it is now conceivable to use DNA as a primary analyte to screen disorders for which there are no screenable analytes but early impactful therapies are available. This Special Issue on NGS in NBS will highlight the use of second-tier NGS for optimizing the positive predictive values of current screening algorithms, and will introduce concepts related to the potential value of primary NGS for the identification of treatable disorders that can only be screened for by the detection of pathogenic DNA variants.
Prof. Dr. Borut Peterlin
Dr. Richard B. Parad
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- newborn screening (NBS)
- dried blood spots (DBS)
- next-generation sequencing (NGS)
- rare diseases
- machine learning