This month’s featured publication explores the diagnostic advancements made possible through clinical DNA methylation episignature testing. Conducted by the EpiSign Clinical Testing Network, the study assesses the diagnostic utility of the EpiSign assay, which employs unsupervised clustering techniques and a support vector machine-based classification algorithm to compare patient DNA methylation profiles against the extensive EpiSign Knowledge Database.
Analysing 2399 cases, the study reports a significant diagnostic yield, with 18.7% of comprehensive screens and 32.4% of targeted episignature analyses producing positive results. The findings highlight the critical role of episignature testing in detecting genetic abnormalities, offering a standardised methodology across clinical laboratories, and demonstrating its substantial clinical utility in diagnosing rare diseases beyond conventional DNA sequence analysis.
Reference:
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. PMID: 38251460.
