Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns
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.
Authors
- James Pitt (ORCID: https://orcid.org/0000-0001-7021-3210)
- Ronda F. Greaves (ORCID: https://orcid.org/0000-0001-7823-8797)
- S. K. Arora (ORCID: https://orcid.org/0000-0002-7562-2416)
- Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
- Jeanie L.Y. Cheong (ORCID: https://orcid.org/0000-0001-5901-0455)
- Jozef Gécz (ORCID: https://orcid.org/0000-0002-7884-6861)
- Katrina Williams (ORCID: https://orcid.org/0000-0002-1686-4458)
- David E. Godler (ORCID: https://orcid.org/0000-0002-6405-269X)
- Simon Sadedin (ORCID: https://orcid.org/0000-0002-2144-7894)
- Michael Field (ORCID: https://orcid.org/0000-0001-7455-934X)
- Melissa A Wake (ORCID: https://orcid.org/0000-0001-7501-9257)
- Meaghan Wall (ORCID: https://orcid.org/0000-0001-9711-0705)
- Mohammed Abdullah Alshawsh (ORCID: https://orcid.org/0000-0001-8342-5183)
- Minh Bui (ORCID: https://orcid.org/0000-0002-9099-6870)
- Mark Corbett (ORCID: https://orcid.org/0000-0001-9298-3072)
- David J. Amor (ORCID: https://orcid.org/0000-0001-7191-8511)
- Richard Saffery (ORCID: https://orcid.org/0000-0002-9510-4181)
Institutions
- University of Technology Sydney (AU)
- Royal Women's Hospital (AU)
- The University of Melbourne (AU)
- Royal Ottawa Mental Health Centre (CA)
- Australian Regenerative Medicine Institute (AU)
- Living with Disability (GB)
- Hunter Genetics (AU)
- Cancer Research And Biostatistics (US)
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
- Melbourne Health (AU)
- Monash University (AU)
- The University of Adelaide (AU)
- Aalborg University (DK)
Publication Details
- Journal
- Epigenomics
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1080/17501911.2024.2402681
- Citations
- 5
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.75
Funders
- Financial Markets Foundation for Children
- National Health and Medical Research Council