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Molecular Tools for Medicine

Recent advances in detecting and sequencing DNA can act as a sort of 'molecular stethoscope,' write the Scripps Research Institute's Eric Topol and Stanford University's Stephen Quake in a Wall Street Journal opinion piece.

As the traditional stethoscope has allowed clinicians to hear what's going on in the body, genomics tools are beginning to enable clinicians to get another view into their patients. They can get a glimpse of foreign DNA that might be in a patient's bloodstream — DNA from an infecting virus or bacterium, a tumor, or, in a pregnant woman, from the fetus.

Versions of such a 'molecular stethoscope,' they note, have been deployed to test fetal DNA in mothers' blood for signs of Down's syndrome and other chromosomal disorders and appear to be able to detect early stages of organ transplant rejection by finding snippets of DNA from the donor in the recipient's blood. In these and similar cases, Topol and Quake write that molecular tools are supplanting more invasive techniques like amniocentesis and biopsy.

"You can now picture the day when you have a checkup and get a full DNA/RNA assessment — the molecular stethoscope of the future," Topol and Quake say. They caution, though, that safeguards will have to put into place to try to avoid false positives and prevent unnecessary treatments.

"Nonetheless, the amazing specificity of DNA and RNA sequencing has the potential to lead to much more informative, and better-performing tests — accurately determining what is going on in the body long before we would otherwise know — than the current set of imperfect and sometimes controversial tests," they add.

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