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. 2024;16(18):1203-1214.
doi: 10.1080/17501911.2024.2402681. Epub 2024 Oct 4.

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns

Mohammed Alshawsh  1   2 , Melissa Wake  2   3 , Jozef Gecz  4 , Mark Corbett  4 , Richard Saffery  2   3 , James Pitt  2 , Ronda Greaves  2   5 , Katrina Williams  1   2   3 , Michael Field  6 , Jeanie Cheong  2   3   7 , Minh Bui  8 , Sheena Arora  9 , Simon Sadedin  5 , Sebastian Lunke  2   3   5 , Meg Wall  2   3   5 , David J Amor  2   3 , David E Godler  2   3
Affiliations

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns

Mohammed Alshawsh et al. Epigenomics. 2024.

Abstract

This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening approach called methylation-specific quantitative melt analysis (MS-QMA), followed by second and third tier testing including targeted methylation and copy number variation analyzes with droplet digital PCR, EpiTYPER system and low-coverage whole genome sequencing. EpiGNs utilizes only two 3.2 mm newborn blood spot punches to screen for genetic conditions, including fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Dup15q syndrome and sex chromosome aneuploidies. The program aims to: identify clinically actionable methylation screening thresholds for the first-tier screen and estimate prevalence for the conditions screened.

Keywords: EpiGNs; early detection; epigenomics; newborn screening; population-wide study.

Plain language summary

[Box: see text].

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Conflict of interest statement

DE Godler reporting being an inventor on patents related to the technologies described in this publication and being an executive director of EDG Innovations & Consulting, which receives funds from this intellectual property. He also has acted as a paid consultant for Bellberry, Ltd and Actinogen Medical, Pty, Ltd. No other disclosures were reported.

The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Figures

Figure 1.
Figure 1.
Overview of the GenV component for 50,000 participants. Note: *Fragile X, Prader-Willi, Angelman, Dup15q, Turner, XXY, XXXY and XXYY syndromes.
See this image and copyright information in PMC

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