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Potential harms missing in coverage of Color Genomics cancer test

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4 Star

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Color Genomics Sells $249 Breast Cancer Gene Test to Masses

Our Review Summary

This story describes a newly available genetic test intended to indicate if a person has a BRCA1 or BRCA2 mutation that signals a susceptibility to breast cancer, as well as mutations linked to ovarian cancer.  While tests for these mutations are already available, this new product costs a fraction of the traditional price for genetic testing and will be marketed more widely to women who may not qualify for insurance coverage of existing tests.

While the story earns Satisfactory marks on the majority of our 10 criteria, the failure to discuss potential harms of more widespread testing in more than a general way is a significant omission. The story also wasn’t as clear as it could have been about cost and about availability of existing tests.  While it’s true that they are more expensive, these tests are covered under the Affordable Care Act for those with a family history of breast, ovarian, and other cancers. Thus, they are a covered preventive service for women who are likely to benefit from such testing.

 

Why This Matters

It has been estimated that there are approximately 222,000 unaffected (not diagnosed with cancer) BRCA 1/2 mutation carriers in the United States and only 5-6% of them have been identified. In addition, estimates suggest that over 35,000 breast cancer patients have a deleterious BRCA mutation and only 30% of them have been identified. Identification of women at high risk allows for more appropriate screening and risk-reducing treatments such as medication or surgery. The question is whether direct-to-consumer marketing is an appropriate way to identify these women, since it will potentially expose more women to adverse effects — including false positive and ambiguous results that can lead to unnecessary additional testing and treatment. These harms can be greatly reduced when testing is accompanied by genetic counseling.

Criteria

Does the story adequately discuss the costs of the intervention?

Satisfactory

Since the primary news value of this story is the lower-than-normal cost of the new test, the story rates a satisfactory for this criteria.  It also provides comparative pricing for earlier tests now in common use.  The story also mentions that the company, Color Genomics, will provide a doctor to order the test if a customer needs one, but is unclear as to whether that involves any additional charge.  And while it mentions that complementary genetic counseling is available, it’s unclear if that would be equivalent to counseling that is traditionally available.  Readers would be well-served to have this additional information.

Does the story adequately quantify the benefits of the treatment/test/product/procedure?

Not Satisfactory

The story says that the test claims to find the presence of mutations to the BRCA1 and BRCA2 genes, as well as other mutations to other genes known to indicate a higher risk for breast and ovarian cancer. While that’s useful information, the story doesn’t explain or quantify what having that information means for women or how it benefits them. To satisfy this criterion, one approach the story could have taken is to quantify the risk conferred by these mutations, and how women who test positive can act based on these test results to reduce that risk. Another benefit is for women who thought they were at high risk who test negative — they’ll have less need for future screening that could lead to false positives and overtreatment.

Does the story adequately explain/quantify the harms of the intervention?

Not Satisfactory

While the story does acknowledge the possibility of ambiguous results, there is no specific discussion of possible harms from the new test such as false positive results that can lead to anxiety and stress, additional testing and potential surgeries — and of false negatives which can indicate no problem when the risks are actually quite high. In addition, there can be significant harms to inappropriate testing and to providing test results without appropriate counseling. The presence of a deleterious mutation does not mean that the individual will develop the cancer – it only gives an idea of her increased risk. Genetic testing is not recommended in the absence of pre- and post-test counseling by a health professional with expertise and experience in cancer genetics, which may include a genetic counselor. Patients need to understand the implications of a positive and negative test result not only as applies to their situation, but to other relatives as well. In addition, there is now the ability to detect many mutations – a significant number of them do NOT convey an increased risk of cancer, and may have an unknown influence on the development of cancer. The latter – variants of uncertain significance (VUS) – should never be acted on without appropriate counseling.

Does the story seem to grasp the quality of the evidence?

Not Satisfactory

For this criterion, the rating is simple. There is no information in the story that speaks to the quality of the test or its accuracy. There is no explanation of any research supporting the test or outcomes based on its use. It is reasonable to expect at a minimum some accuracy rating for such tests, but nothing of that sort is offered.  A similar story on National Public Radio at least mentioned comparative analysis of some breast cancer tissue samples using the test, but even it offered no data — only that the company has published the results on its website and “plans to submit them to a peer-reviewed journal.”

Does the story commit disease-mongering?

Satisfactory

This is a borderline call.

This test is aimed at women, and men, who fear their genetic makeup sets them up for a deadly disease. And the lower-than-expected price for genetic testing is intended to make the test available to many more people than may have been open to testing in the past.  Lastly, the company’s admitted decision to market directly to the public suggests, at least to a small extent, playing off the fears of the populace.

While the story can’t be held responsible for these elements, its coverage could have provided a more thorough discussion of the downsides of indiscriminate testing. And since it notes that the test is designed to “circumvent the need for insurance coverage,”  it could have pointed out that insurance (by law) already covers the existing tests for those who would benefit most — making it likely that the new test will appeal most to those who are less likely to benefit.

Then again, the story does warn that some expert groups recommend against testing everyone. We’ll give the benefit of the doubt.

Does the story use independent sources and identify conflicts of interest?

Satisfactory

The story meets our standard here since it includes a comment from an official from the American Cancer Society. The views of company officials are also thoroughly represented. We’d have preferred to see more views from independent experts, and less from company officials who have an obvious vested interest.

Does the story compare the new approach with existing alternatives?

Satisfactory

The story does mention that other tests are available at a much higher price (although they are covered by insurance for those who meet the criteria for high risk).  It also mentions court decisions which ended patent claims on the process of such screening which opened up competition for new tests, increasing their availability.

Does the story establish the availability of the treatment/test/product/procedure?

Satisfactory

The story states that the test is “available online today.” But as pointed out above, it would have been great for the story to have noted that insurance (by law) already covers the existing tests for women at high risk.

Does the story establish the true novelty of the approach?

Satisfactory

The main novelty factor here is the price, and the story makes this clear.

Does the story appear to rely solely or largely on a news release?

Satisfactory

The story does not appear to be based on any news release that we could find. The comments from an independent source are enough to satisfy this criterion.

Total Score: 7 of 10 Satisfactory

Comments (7)

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We will delete comments that include personal attacks, unfounded allegations, unverified facts, product pitches, or profanity. We will also end any thread of repetitive comments. Comments should primarily discuss the quality (or lack thereof) in journalism or other media messages about health and medicine. This is not intended to be a forum for definitive discussions about medicine or science. Nor is it a forum to share your personal story about a disease or treatment -- your comment must relate to media messages about health care. If your comment doesn't adhere to these policies, we won't post it. Questions? Please see more on our comments policy.

Elizabeth Ganci

May 20, 2015 at 7:56 pm

The Insurance companies will only cover the test if TWO family members have had breast/ovarian cancer. My Mom died from ovarian cancer June 2014. I am not waiting until a second member of my family has breast/ovarian cancer to qualify for this testing! I could be the second! I want to know now!

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Jean

May 25, 2015 at 8:28 am

In cases like mine. Mom and grandma had breast cancer. I don’t know of any other relatives as grandma was a only child that her mom abandoned and my mom he’d 3 brothers that were a strange from her.
So they won’t do brac testing on me as I need more family history, that I have no access to.
I have had lumps that have been biopsy (thankfully neg). I want to know if I have the genes, so I can take preventive measures and also for future members of my family sake.

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Mary

June 23, 2015 at 12:32 am

Half of my female relatives have had breast cancer, including my mom twice and my grandmother. Yet I could not get tested through medicare, I am 66. Your article makes it seem the insurance coverage is a slam dunk in my situation which is untrue! I feel, also, this article makes women seem like they need to be protected, instead of making decisions for themselves on their own bodies. (My doctor prescribed that I get the testing…I could not afford it! – That was earlier in 2015) I would rather try to find out as much as I can. If it is positive, I am smart enough to get a variety of counseling and more fully understand the next steps I take or do not take. In the meantime, I am losing no sleep worrying about the results.

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Suzanne

November 13, 2015 at 1:51 pm

Playing off the fears of the populace? Are you kidding me? What an insult that is to women who want affordable testing without going through the insurance companies. What a patriarchal view. What do you think we do with the information if we test positive? Rip our beasts off? We go to our doctor to get further testing and information to make informed decisions.

Reply

    Gary Schwitzer

    November 16, 2015 at 11:41 am

    Suzanne,

    I think that the 3 reviewers who reviewed that piece – including breast cancer specialist Dr. Deanna Attai – and I, as publisher, of this site, were surprised that you were offended by their review. Yet we listen to and try to understand such comments because insulting any reader with a review of a news story like this is not our intent and is not anywhere near being on our radar screen. Quite to the contrary, our story reviews are meant to help readers improve their own critical analysis of claims about health care interventions. We have a strong and loyal following among women with breast cancer and we think we’ve earned that following and the trust and respect of those readers.

    You wrote that our review displayed a “patriarchal view.” If we are to decipher that as an implication that our review was dominated by a male perspective, let me remind you that Dr. Attai is President of the American Society of Breast Surgeons and describes herself as an ardent proponent for patient education and empowerment. She is very active on social media, holding frequent discussions online with women with breast cancer. I’m not sure I see what was patriarchal about what the reviewers wrote.

    I shared your comment with Dr. Attai, who wrote to me:

    I guess my only comment would be that the National Comprehensive Cancer Network, the American Society of Clinical Oncology and other organizations recommend genetic testing only in the context of genetic counseling. There are significant implications of positive and negative results, both for the patient as well as family members. In addition, many results are indeterminate – variant of uncertain significance (VUS). After a comprehensive counseling session, patients can make an educated decision whether or not they want to be tested. It is also recommended that post-test counseling be performed to review recommendations based on the specific test results. The example she cites of running to get a mastectomy is likely not what will happen. However, in the absence of counseling, patients may not fully understand what their options are. This is not like getting a cholesterol level checked.

    Finally, our project has reviewed thousands of media messages about health care interventions. You reacted to one phrase about a company’s direct marketing to the public as “playing off” public fears. In reviewing thousands of media messages, we see countless examples of fear-mongering from industry and from media sources and we try to address those messages and help readers critically analyze them. So, again, no offense was intended. We’re sorry if you took offense at what was intended as a review of journalism, and as an intelligent, reader-focused message.

    Gary Schwitzer
    Publisher

    Reply

Ellen

January 24, 2016 at 3:24 pm

I’m at high risk, but my insurance company requires a $375 phone interview before they approve the test. Then a $375 lab charge. Both subject to my deductible. This is a bargain for me, and less hassle. My doctor will receive the results. Your review makes women seem like idiots.

Reply

    Kevin Lomangino

    January 25, 2016 at 6:23 am

    Ellen,

    Thanks for the comment and info. I’m not sure why you felt this review made women “seem like idiots.” I can find nothing in the review that would support that. Our review team, which includes a prominent female breast surgeon, was commenting on the quality of the journalism, and the fact that key information (such as false positive rates) was not mentioned or discussed. I’m glad that you’ve decided the test is a good fit for you. But I don’t think asking news stories to provide basic information about this test makes anyone seem like an idiot.

    Kevin Lomangino
    Managing Editor

    Reply