Hereditary Cancer Tests from Color Genomics

It’s been a while since we’ve taken a look at the various “at home DNA tests” available from companies like 23andMe,, and Family Tree DNA. What each of these DNA tests has in common is that they all offer ancestry testing so that you can see if you are related to anyone else that took the same test. They don’t dabble in anything related to genetic health, though 23andMe did try before. When they did decide to start offering hereditary cancer tests, the FDA slapped their hand for not having received FDA approval before offering such tests. Since then, 23andMe has received FDA approval for some health related tests but, none related to hereditary cancer testing. That space is now occupied by a number of companies including one called Color Genomics which has taken in a fairly large amount of funding to sell at-home DNA tests which look for 30 different types of cancer genes.

Color Genomics Logo

Founded in 2013, Color Genomics has taken in $150.5 million to “democratize access to high-quality genetic information”. At the present moment, that means selling tests that can detect hereditary cancer and hereditary high cholesterol. (According to Color, about 10-15% of most cancers are due to inherited genetic mutations.) Investors in the startup include some prominent names such as the CTO of Cisco, a co-founder of Yahoo, a co-founder of PayPal, and Khosla Ventures.

The company’s flagship test offering is a 30-gene cancer test called “Color” which can be taken at home. In order to purchase the $249 test, it first needs to be requested by a doctor. Of course if you don’t want to bother your doctor, they’ll provide a doctor’s approval for you. Upon providing payment for the test, the patient then can talk with Color Genomics about family history of cancer before the test, get the actual test results, and then receive counseling along with the results should they prove to be positive. Color has partnerships with a number of large corporations to offer this as an employee service, and they also offer free genetic testing to underserved individuals (one could argue that both sides are getting something of value here). Below you can see some examples of the genes they test for, and the types of cancer they predict (not all 30 genetic markers are shown below):

While you would expect that most people would test negative for these genetic markers, the million dollar question is what are you supposed to do if you test positive to a particular marker and what does that mean? In a nutshell, a positive test means that you have a greater likelihood of coming down with that particular type of cancer based on genetic susceptibility. At that point, there are certain preventative measures that can be taken, which is why the FDA has expressed some concern. Do we really want women who test positive for the BRCA1 gene going out and pulling an Angelina Jolie? While such extreme measures may not be warranted, testing early and often would be an appropriate step to take. The 5-year survival rate for breast cancer rises from 25% to 98% when detected early as opposed to being discovered in an advanced stage.

The Color Test analyzes the most relevant genes for mutations that could increase a patient’s risk for breast, colorectal, melanoma, ovarian, pancreatic, prostate, stomach, and uterine cancers. The reports themselves are of a high quality as you can see in the below samples:

They also state that if you receive a positive result, your first-degree relatives can get tested for just $50 each. Until we have smart toilets that test our urine streams for cancer every morning, it probably makes sense to take proactive measures if you have a family history of particular types of cancer. Still, for most of these cancers there aren’t really any concrete measures we can take aside from getting body parts removed and getting tested more frequently. Here are a few things Color Genomics says about the results:

  • Please keep in mind that there is no right or wrong option when deciding on a plan to reduce your risk of developing cancer. It is a very personal choice.
  • Your actual risk may be different based on other genetic and non-genetic factors.

Wouldn’t it be fun to get their marketing person on the phone with their legal person and hear them both “work together” to try and explain these statements? What this seems to say is that we should take the risk numbers with a grain of salt and that there are no proven preventative measures that we can take aside from getting tested early and often. Since Americans probably worry more than any other culture on the planet, these tests should be selling like hotcakes. Of course Color Genomics hardly has a monopoly on these types of tests which is a good segue into the topic of competition.

The story starts with a company called Myriad Genetics (NASDAQ:MYGN) which began selling a hereditary cancer test way back in 1996. Up until 2013, Myriad actually had a patent on the BRCA1 gene (that’s the gene which predicts breast cancer risk). When the Supreme Court invalidated that patent, it created an opportunity for companies like Color Genomics (coincidentally founded in 2013) to enter this space. Just to give you an idea of how much money there is to be made here, Myriad Genetics brought in $127 million in the last 3 months of 2017 selling their myRisk hereditary cancer test, a number which is about 12% less than the same period in 2016. Like Color Genomics, they also test for a variety of cancers but use 28 genetic markers instead of 30:

That large revenue number can be partially explained by the fact that Myriad Genetics sells their test at around a $4,000 price point. That’s 16X the price of the Color Genomics test which helps explain why Color Genomics talks about “democratizing access to high-quality genetic information”. In an interview with CB Insights, Color Genomics’ CEO Othman Laraki talks about how that low price point has been made possible by a great deal of automation along with economies of scale, as Color Genomics now has one of the largest testing labs in the United States. For example, while most genetic counselors might spend an average of four hours per patient, Color Genomics has brought that number down to 37 minutes.

With their latest funding round closing in August of 2017 for $80 million, we can only guess that things are going really well for Color Genomics. According to an article by CNBC around the time of that last funding round, “other areas that Color’s team is exploring include preventative tests for neurological health, behavioral health, as well as family and reproductive medicine“. Once they have someone who has taken any single test, it’s then easy enough to up-sell additional tests. For example, they offer their cholesterol test at a discounted price for those people who have already taken the hereditary cancer test.

In a future article, we’ll put together a list of all the companies that are offering hereditary cancer tests in order to see who all the players are. In the meantime, you can pick up a Color Genomics test right now on Amazon for $249. If you just want to analyze your BRCA1 and BRCA2 genes (associated with an increased risk for hereditary breast and ovarian cancer), that’s on sale now for just $99. Just make sure you ask your doctor first.

  • Ashley

    Thank you for sharing your perspective on at-home genetic tests. There are a lot of new services popping up all the time, but I think it’s important that patients get to use their genetics for their greatest impact, their health care. Have you heard of a service called ActX? It’s not direct to consumer like 23 and me or Color Genetics, but it is a medical test that functions as a broad genetic screening for actionable medical things. Cancers, metabolic diseases, cardiovascular diseases, and even which drugs won’t work for you based on your DNA.. I had mine done, It’s different because your doctor gets the results too and it’s built into your patient chart. If my doctor tries to prescribe something that won’t work for me, their system tells them — so my results actually improve my health care.. It tells me about my risks and what can be done to take action. Anyway I thought it was far more important to have that kind of information than to pay almost as much for 23 and me to tell me what color eyes I have (blue) or that I’m highly northern European (duh).

    • Nanalyze

      Thanks for that Ashley. I’m in agreement with you. I already know that I love cilantro and I don’t need a genetic test to confirm it.

      We checked out ActX and they’ve taken in $2.7 million to develop their test which they envision will eventually just be a standard part of any electronic health record (EHR/EMR). The CEO and founder used to be CEO of the first EHR/EMR company ever. We’ll have to do an article on them in the future. Thank you for the heads up!

  • Judy

    Here’s the value of the Color test. Early detection. There are many protocols now about getting regular and more extensive testing if genetic predispositions to cancer are found through genetic tests such as the one Color provides. Knowledge of risk means that there is a greater probability of detecting potentially fatal cancers early enough to be succesfully treated. Some of the 23andme tests are also useful, but the Color test has given me something potentially life-saving.

    • Nanalyze

      Thank you for that Judy.

      Agree with everything you said and its those “protocols” that we’d be interested in learning more about. We’d like to see a table with “suggested test frequency” for people who are NOT predisposed and people who ARE. Color tests look for 30 different genes so if any one of these are found we would like to see very specific actionable “next steps” that any medial professional would agree upon. Maybe Color has this but the vague disclaimers they pose in the test results don’t lead us to believe that such a thing exists.

      • Judy

        Hi. I know about the protocol for my specific mutation in the ATM gene. They discussed it with me, and it’s written in my report. For breast cancer, the protocol for women over 30, which is widely accepted in the US, is to have a mammogram and an MRI yearly. For Pancreatic cancer, where the risk is also elevated, there is no agreed protocol. I was advised to get yearly screening (possibly MRI, although there’s also a different option) at a cancer centre large enough to do a lot of these. I currently live in the UK, and my doctors reviewed the report and agreed to the breast screening protocol.

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