Possibly, this approach could be used in primary screening for malignancies in patients at risk for cancers (smokers, inflammatory bowel disease, hepatitis B, etc.) or even in the general population. Could even mammography one day be replaced by a cell-free DNA approach?
Cell-free DNA analysis already has an emerging role in detecting fetal cell-free DNA in early-stage pregnancy to identify cases of Down syndrome and other karyotype anomalies before the typical timing of more traditional serum and imaging testing. Similar advances in the microbiome field – measuring entire populations of bacteria and viruses in body fluids and tissues, rather than merely what major specie(s) will grow in culture medium – show another area where high-throughput DNA/RNA analysis has a foothold.
Internists and other physicians alike will need to continue to learn more about these emerging approaches, approaches that seem destined to provide far more quantitative insight into disease biology than previously possible.
Dr. Taylor is with the department of internal medicine and is director of adult clinical genetics at the University of Colorado at Denver, Aurora. He reported having no conflicts of interest.