Epigenetic changes of DNA, including methylation,
have long been recognized as key indicators of various diseases, including
aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylation patterns for both hypermethylation
and hypomethylation lead the way in discovery of novel diagnosis and treatment targets. Many different approaches
are present to detect the level of methylation in whole genome (whole genome
bisulfite sequencing, microarray) as well as at specific loci (methylation
specific PCR). Cell-free DNA (cf-DNA) found in body fluids like blood
provides information about DNA methylation
and serves as a less invasive approach for genetic screening. Cell-free
DNA and methylation screening technologies, when combined, have the potential
to transform the way we approach genetic screening and personalized therapy.
These technologies can help enhance disease diagnostic accuracy and inform the
development of targeted therapeutics by providing a non-invasive way for
acquiring genomic information and identifying disease-associated methylation
patterns. We highlight the clinical benefits of using cell-free DNA (cf-DNA)
liquid biopsy analysis and available methylation screening technologies that
have been crucial in identifying biomarkers for disease from patients using a non-invasive way. Powering such biomarker
discoveries are various methods of cf-DNA methylation
analysis such as Bisulfite Sequencing and most recently, Methylation-Specific Restriction Enzyme (MSRE-seq)
Analysis, paving the way for novel
epigenetic biomarker discoveries for more robust diagnosis such as early disease detection, prognosis, monitoring of disease
progression and treatment response as well as discovery of novel drug
targets.
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