Using “next-generation sequencing” techniques that promise a detailed look at an entire genome for less than $10,000 (and someday less than $1,000), researchers found that they could identify disorders in chromosomes that lead to cancer. The researchers, at Johns Hopkins University in Baltimore, Maryland, and other institutions, tracked tumor cells that had been shed into the blood, or tumor DNA that also was found in blood. They found that every cancer pretty much led back to altered chromosomes; either pieces of the chromosome that were swapped from another chromosome, or multiple copies of a single gene.
The research suggests that a simple blood test, combined with a gene sequencer that details every strand of DNA in the genome, could identify these abnormal chromosomes well before tumor cells develop. As these gene sequencing techniques become less expensive, this may require nothing more than a simple test in a doctor’s office, for about the cost of other current lab tests.
Leary, R., Sausen, M., Kinde, I., Papadopoulos, N., Carpten, J., Craig, D., O’Shaughnessy, J., Kinzler, K., Parmigiani, G., Vogelstein, B., Diaz, L., & Velculescu, V. (2012). Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing Science Translational Medicine, 4 (162), 162-162 DOI: 10.1126/scitranslmed.3004742