Is Cancer Overdiagnosed?

There is a growing debate in healthcare, spurred by an advisory panel for National Cancer Institute, that says cancer is being over-diagnosed. There is no doubt that early-detection of cancer has saved lives, especially for the more aggressive varieties. The argument goes that early-detection screenings have become more widespread, but doctors still aren’t catching a lot of fast-moving cancers, yet operating on more patients with tissue abnormalities that may never cause harm. Predicting whether or not precancerous tissue will develop into full blown cancer is not yet an exact science, but genomics has changed that.

Photo courtesy of Dan Castillo Dominici via
Photo courtesy of Dan Castillo Dominici via

One way genomics has already increased the effectiveness of early-detection screenings is through a transition to risk-based screening. Dr. Laura Esserman, a breast cancer surgeon at University of California, San Francisco, has begun a study exploring the benefits of screening based on individual risk, rather than the broad guidelines of the past. Age and gender used to be the main factors considered when determining screening procedure, but as knowledge of the hereditary nature of cancer grows, screening efforts have become more and more individualized. In 2010, MD Anderson in Texas officially adopted new early-screening standards, but their own physicians had been using the protocol for years. Esserman’s study promises to further explore individualized screening for breast-cancer, as it takes in the most genetic and lifestyle factors of any study yet. Genomics goes beyond informing early-detection screening when it comes to making tough decisions about cancer.

Varieties of cancer are starting to be identified by genotype, rather than region in the body. Cancer genotypes reveal a lot more information about that particular type than other methods of categorizing cancer, including drug-genome interaction and prognostic information. Researchers have found that dissimilar cancers share genetic abnormalities (.pdf warning), which lead to similar types of tumors growing, but in different parts of the body. For example, lymphoma and lung cancer have similar mutations on the ALK gene, while breast and some types of gastric cancers share a mutation on the HER2 gene. Identifying and cataloguing these similarities between tumors has helped doctors come to a more specific diagnosis for their patient’s cancer.

There is no uncertainty that finding cancer early has improved clinical outcomes, but it was merely a first step in personalizing detection and diagnosis of this deadly disease. Genomics has made personalized early-detection screenings possible. Proper analysis of cancer tumors has revealed important diagnostic information that can individualized treatment. By providing these tools in addition to top-level analysis, New Amsterdam Genomics hopes to make the difficult decisions every cancer or precancerous patient a little easier.



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