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