Tests for genetic material circulating in the bloodstream could soon help predict, diagnose, and monitor a multitude of different disorders, including multiple myeloma. The science remains in the research stages, but the technology appears promising and companies have begun investments into commercial applications.

DNA – our genetic “blueprint” – resides within the body’s cells, not only dictating our fetal development in the womb but also choreographing our cellular functioning throughout life. Scientists have discovered, however, that snippets of DNA and its genetic sister, RNA, also freely float throughout our blood stream. These circulating genetic fragments provide a window into the health and activity of organs throughout the body.

Researchers do not fully understand where this genetic material originates, but they suspect that both dead and living cells release DNA and RNA into the blood. Even healthy individuals possess these genetic fragments in their bloodstreams, but patients with chronic diseases like cancer typically possess highly elevated levels.

More informative than the overall concentration of circulating genetic material are the specific identities and sequences of the fragments themselves. DNA snippets may reveal mutations associated with certain cancers, and RNA, which reflects protein synthesis, may reveal disorders or tumors that involve protein over- or under-production. As such, a blood analysis could allow physicians to genetically profile tumors without invasive biopsy, explains David Hoon, a molecular oncologist at the John Wayne Cancer Center Institute in California.

Beyond diagnosis, these blood tests could also predict future risk of as-yet-undeveloped disease or monitor progression of already confirmed disorders. In both cases, genetic markers in blood can reflect changes at the cellular level long before outward symptoms develop or worsen.

This technology has already gained approval in the United States and Europe for diagnostic prenatal care tests, but researchers caution that parallel cancer blood screenings remain at least a few years away. Nevertheless, companies like Chronix Biomedical, Inc. are already mining thousands of data to identify circulating genetic markers of different diseases, including multiple myeloma.

Dr. Brian Durie, chair of the International Myeloma Foundation and oncologist at the Cedars-Sinai Medical Center’s Samuel Oschin Comprehensive Cancer Institute in Los Angeles, explains, “The long-term goal is to identify genetic guides that can point physicians to a tumor’s location as well as patterns that are characteristic of its stage to determine and monitor treatment and disease progression in patients.” Dr. Durie is currently writing a paper on this technology for Blood Journal.

For more information, read the full article at the Scientific American Web site.