Detecting Tumor DNA in Blood
Research Area: Early Detection
Kenneth Kinzler, Ph.D., is a molecular geneticist widely recognized for his role in helping to identify genetic mutations that initiate development of most colorectal cancers. As a co-director, with Bert Vogelstein, M.D., of the Ludwig Center at the Johns Hopkins Kimmel Cancer Center, the duo created novel techniques for ana-lyzing gene expression and genetic errors in many human malignancies over the years.
In the mid-1990s, he invented SAGE, Serial Analysis of Gene Expression, allowing analysis of gene expression in human cancers. He coined the term “transcrip-tome” to refer to genes that are transcribed at a particular point in time. He later invented digital PCD and other digital genomic approaches for the detection of trace levels of tumor DNA in blood and other tissues.
The ability to measure DNA fragments shed by tumors in blood or other bodily fluids holds promise for finding early stage disease when a cancer can be prevent-ed, or even cured. In 2020, Dr. Kinzler reported in Science the results of a first-of-its-kind study of a liquid assay for circulating tumor in a general population of nearly 10,000 women with no evidence or history of cancer. This preliminary re-port showed that 26 unknown cancers were found but there were also many false positive results.
Because of the potential for overdiagnosis, Drs. Kinzler and Vogelstein, with their team, have described the test as complementary, not a stand-alone measure of cancer’s presence. They continue to refine the assay with the goal of making a simple blood test for cancer detection a useful reality.
Dr. Kinzler earned a Ph.D. in pharmacology and molecular sciences from Johns Hopkins University School of Medicine in 1988. He has received many awards, in-cluding a Merit Award and the Director’s Service Award from the National Cancer Institute, as well as recognition by the National Academy of Inventors for invent-ing the technology underlying digital biopsies. He is a long-time member of the NCI Early Detection Research Network.
Read more about Dr. Kinzler in this summary.