Angeline Jolie’s disclosure of her double mastectomy has drawn the mainstream media’s attention to genetic testing, a recent medical advancement with huge, albeit challenging, implications.
Many experts predict that genetic testing is on its way to becoming a routine part of clinical care. Already, genomic tests have been developed for more than 2,200 diseases — many of them rare genetic disorders. But a growing number are being developed to look for mutations in numerous genes that may affect a person’s risk for cancer.
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Despite the fact that most cases of cancer are not inherited, this has been a likely place for commercial activity because cancer is so prevalent and there’s already so much research going on. The National Cancer Institute, for example, launched the Cancer Genetic Markers of Susceptibility project in 2005 to identifying common inherited genetic variations associated with various types of cancer.
Commercial applications started in women’s cancers, with tests for mutations in BCRA1 or BCRA2 associated with breast and ovarian cancers, but now span a few other kinds that are overlooked. It’s important to remember, though, that there are still many questions around the actual value of these pricey tests.
Colon cancer – Several genes have been linked to increased risk of developing two kinds of colon cancer: familial adenomatous polyposis and Lynch Syndrome. But still, genetic mutations likely account for only 5 to 6 percent of colorectal cancer cases overall, according to the NCI. Some patients with these genes may opt to have preventive surgery, which involves removal of some or all of the bowel.
Myriad Genetics offers a test called Colaris and Genomic Health Inc. markets Oncotype DX Colon Cancer to look for gene mutations associated with Lynch syndrome. A company called Ambry Genetics has also developed a next-generation sequencing panel that looks for mutations in 14 genes associated with colon cancer.
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Prostate cancer – About 5 to 10 percent of cases are believed to be due to inherited genetic factors. Some experts think genetic testing could be especially helpful in prostate cancer, which is often associated with over diagnosis and overtreatment.
The first test on the market was Prolaris by Myriad Genetics Inc. Last week, a new test from Genomic Health, designed to gauge the aggressiveness of prostate cancer, made headlines when it hit the market. Both reportedly cost more than $3,000.
[Photo from Flickr user dancentury]
