Trends in Genetics
ReviewSpecial Issue: Human GeneticsAccessing Genetic Information with Liquid Biopsies
Section snippets
Blood-Based Sources for Future Molecular Diagnosis
Human blood contains rich genetic information which can greatly facilitate accurate diagnosis of a variety of diseases. Genomic DNA derived from leukocytes has long been used as the gold standard for molecular diagnosis of germline genetic diseases. However, there are additional forms of genetic material, albeit in extremely low quantities, within the blood, including DNA/RNA derived from circulating tumor cells (CTCs) and cell-free nucleic acids (cfNAs: cfDNA/cfRNA/circulating miRNA) (Box 1) 1
Technologies and Approaches to Analyze CTCs and cfNAs
Several types of genetic information, including somatic mutations, epigenetic modifications, and mRNA/miRNA differential expression, are currently being pursued as biomarkers for cancer and prenatal diagnosis. In particular, cancer-specific somatic mutations have received the most attention.
Concluding Remarks and Future Perspectives
In combination with NGS, liquid biopsies are quickly moving into the clinic, creating a new sphere of molecular diagnostics in areas including prenatal health, oncology, organ transplantation, and neurodegenerative disease 1, 18, 29, 56, 57. Reflective of its rapid development and tremendous potential impact, it was recently selected as one of the top 10 technology breakthroughs in 2015 by MIT Technology Review.
NIPT is the first and, arguably, most-successful clinical adoption of the liquid
Glossary
- Companion diagnostics
- in vitro diagnostics that provide information essential for the safe and effective use of a corresponding drug or biological product, such as cancer-targeted therapy drugs.
- CpG island
- in eukaryotic genomes, regions of several hundred bp that are enriched with CpG dinucleotides. They often overlap with transcription start-sites and can regulate gene expression via their differential methylation states [67].
- DNA methylation
- addition of a methyl group to cytosine residues at the
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Present Address: AnchorDx Corp., Guangzhou 510300, PR China