Genetic and epigenetic biomarkers in human biomonitoring: why needed and how can Oxford Nanopore sequencing contribute?

• Published in: Frontiers in public health Vol. 13; p. 1610248
• Main Authors: Gand, Mathieu, Soubry, Adelheid, Mertens, Birgit, Roosens, Nancy H. C., De Keersmaecker, Sigrid C. J.
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 01.07.2025
• Subjects: Biological Monitoring - methods; Biomarkers - analysis; DNA Methylation; effect biomarker; Epigenesis, Genetic; Genetic Markers; human biomonitoring; Humans; Nanopore Sequencing - methods; Oxford Nanopore Technologies; Public Health; Risk Assessment - methods; SNP; susceptibility biomarker; SNP; large-population study; susceptibility biomarker; effect biomarker; DNA-methylation; Oxford Nanopore Technologies; human biomonitoring
• ISSN: 2296-2565; 2296-2565
• DOI: 10.3389/fpubh.2025.1610248

Chemical risk assessment can benefit from integrating informative biomarkers in human biomonitoring (HBM). Beyond exposure biomarkers, effect biomarkers inform on biological reactions in the body, potentially leading to adverse effects, while susceptibility biomarkers address inter-individual variability in exposure. DNA methylation of key genes shows promise as an effect biomarker but this epigenetic mark remains underexplored in the context of chemicals. Similarly, although some genetic polymorphisms are linked to increased chemical susceptibility, genetic biomarkers are rarely included in HBM. This mini-review highlights recent literature supporting the inclusion of genetic and epigenetic biomarkers in HBM. Subsequently, we elaborate on how Oxford Nanopore Technologies as sequencing method can efficiently measure these biomarkers simultaneously, even in non-invasive samples like saliva. Widely used in other fields, this experimental set-up could facilitate the design of large-population studies paving the way for a next generation risk assessment (NGRA) of chemicals.