Color Genomics just announced that for a mere $249 they are offering genetic testing for a panel of genes that will include BRCA1, BRCA2 and 17 other genes associated with cancer risk. Considering that the lead competitor in this space offers their cancer gene panel for more than $4000, you can see why this announcement landed on the front page of the NYTimes.

So really, for $249 shouldn’t we all just invest in having cancer genetic testing?

Probably not … at least not yet.

Why? Unless you have a personal and/or family history of cancer, or have other factors that may increase your risk to carry a true mutation in one of these genes, you likely have a higher chance of learning you carry a ‘variant of uncertain significance’ in one of these genes than of learning you carry a true mutation.

What does that mean? It means your chance of getting a murky result that cannot be interpreted may be higher than the chance of finding a true mutation that you should act on with aggressive surveillance, medications to reduce your risk and/or preventative surgery.

So what? Learning that you carry either a variant of uncertain significance or a mutation in a gene that is not well understood (and the clinical significance of several of the genes on this panel is murky, at best) may actually do more harm than good. It may cause you and your physicians to be more concerned about your cancer risks, prompting you to have extra or more aggressive surveillance, and you just may find ‘something.’

Cancer? Well, you could find cancer, but you may instead, for example, find an area in your breast that may or may not be worthy of a biopsy. Or you may have a blood test sometimes used for ovarian cancer surveillance called CA-125 and get a result that is borderline high. Or, perhaps you won’t act on any of these things and you’ll just worry. Is this doing more harm, or good?

There are many people, however, who are excellent candidates for tests just like this one:

  • You don’t have insurance or don’t meet your insurance company’s strict criteria for genetic testing, although you and your genetic counselor agree you are a candidate (for example, Medicare will only cover testing if you already have a cancer that fits that syndrome – they don’t take family history into account, not matter how strong).
  • Your insurance paid for you to have BRCA or Lynch syndrome testing, it came back negative, you and your genetic counselor believe that your personal/family history warrants additional testing, but your insurance won’t cover panels.
  • Your insurance plan has a high deductible and therefore you have postponed genetic testing, although it has been recommended to you by your genetic counselor.

Color Genomics has certainly moved the bar on cancer genetic testing, making it a more affordable out-of-pocket expense for many individuals. They also plan to share their data in public databases, which will increase our knowledge about these genes and what we should do for people who carry mutations in them. Stay tuned – there is certainly more to come in the field of Consumer Genomics.