Cell-free DNA (cfDNA) and applications

Some fragments of DNA are ‘released’ from their containers and are present outside the cell, in body fluids. These small fragments of nucleic acids are widely known as cell-free DNA (cfDNA).

  • cfDNA can be generated and released from a cell in a number of possible situations, including when a cell is dying and the nucleic acids become degraded.
  • Since an array of processes modulates the degradation, the amount, size, and source of the cfDNA can vary across a range as well.
  • In addition, the release of cfDNA could occur together with a variety of processes, including those required for normal development, those related to the development of certain cancers, and those associated with several other diseases.
  • One of the initial reports of the levels of cfDNA in diseases came from studies that were taking a closer look at an autoimmune disease: systemic lupus erythematosus – where the body’s own immune system attacks specific cells.
  • Researchers around the world are increasingly finding cfDNA to be a useful tool to understand human diseases and to use the knowledge to improve diagnosis, monitoring, and prognosis.
  • One of the most widely used applications of cfDNA has been in screening foetuses for specific chromosomal abnormalities, an application known as non-invasive prenatal testing.
  • The availability of affordable genome-sequencing approaches will allow clinicians to sequence cfDNA fragments that correspond to foetal DNA.
  • The cfDNA-based approach has now become the mainstay for screening high-risk pregnancies.
  • Another emerging application of cfDNA is in the early detection, diagnosis, and treatment of cancers.
  • There are a number of emerging applications of cfDNA, including in understanding why a body is rejecting a transplanted organ.
  • There have already been some reports suggesting that cfDNA could be used as a biomarker for neurological disorders like Alzheimer’s disease, neuronal tumours, stroke, traumatic brain injury, and even metabolic disorders like type-2 diabetes and non-alcoholic fatty liver disease.

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