Peter Beitsch, MD/

Blood Test for Diagnosing Cancer #HolyGrail

Researchers at Johns Hopkins and their spin off company Personal Genome Diagnostics published a paper on their preliminary study of 138 early stage cancer patients (colon, breast, lung, and ovarian)  and 48 control non-cancer patients.  They were able to identify circulating tumor DNA in 62% of early cancer patients and none of the non-cancer controls.  The trick is to develop a blood test that could predict the probable presence of cancer without knowing the genetic mutations present in a person’s tumor.

The team captured 80,930 bases of DNA sequence from each individual's blood and generated 30,000-fold average coverage across the sequences, coding for 58 cancer-related genes. Once germline mutations, sequence artifacts, and genetic changes that could be attributed to pre-leukemic conditions were filtered out, the group saw telltale cancer-related mutations in 62 percent of individuals with early stage cancer.

This is the future - get ready!http://stm.sciencemag.org/content/9/403/eaan2415

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