A few short years ago, I had no clue how fast things would change for the Previvor Community when I wrote this post about the need for smarter options to screen for, to treat, and to prevent cancer. Times are changing fast for Previvors! Today, a new affordable genetic test to screen for cancer risk has been launched by a company called Color Genomics – and it made the front page of the NY Times. This happens on same day that Quest Diagnostics announces an initiative to share their data called BRCA Share.
Let’s focus on Color for a moment. The goal of Color Genomics is to democratize access to genetic testing. Here are a few key facts about the test:
- What does this test offer? Color screens for mutations on 19 genes, including BRCA1 and BRCA2. The cost is only $249, or 1/10th of the cost of comparable services.
- How to order: All Color tests are ordered by a physician—either a woman’s physician or one designated by Color who will review her information and order testing on her behalf.
- How accurate is this test? For accuracy Color is publishing a white paper soon showing its validation data. Color is working on collaborations to ensure a low VUS rate and will publish information on this over time.
- What about genetic counseling? For genetic counseling, you can either use Color’s genetic counseling services or, ask your doctor what to do. I have more to write about this below because asking your doctor can be a little complicated.
The overall response from the Previvor community has been excitement, tempered with recognition that we need to fix what is fundamentally broken in healthcare. Our community has known for years that the problems we face are due to lack of access to an affordable test, compounded by our struggle to get through this process ‘bottleneck’ in healthcare where most patients do not have access to genetic counseling.
Here are some reactions to the launch of Color Genomics from our community:
…Maybe this is how I can find out just who I inherited my BRCA gene from. No one has been tested on either side of my family. I stand alone with knowing my BRCA status. My mom’s insurance will NOT cover her testing, even though criteria for such are are clearly present. She can not afford testing through Myriad, but THIS IS absolutely affordable! – Anonymous Previvor
We are still hearing from ladies whose MDs are very poorly informed on HBOC and testing. One of the biggest issues on my mind of late is this: if a woman is worried about familial cancer risk, where should we tell her to BEGIN the journey? – Lori Adelson, Previvor
I asked for genetic testing for years because of family history on my paternal side. I was told many times by numerous physicians that I didn’t need to worry because the history was on my father’s side (which I knew was patently false and said so) and by others, I was told that I didn’t qualify for testing because I had no first degree relatives with a history of breast cancer (not an easy feat when you are sisterless and it’s a BRCA1 mutation passed through your father) — and only one second and one (it turns out five but I didn’t know that then ) third degree relatives with breast or ovarian cancer — and that therefore basically I shouldn’t worry about it. My point is that no one at any time suggested consulting with a genetic counselor or in any way further exploring the issue. – Jill Holdren, Previvor
So here’s the next big question to tackle: How do we make genetic counseling scale to a wider population at the same pace of these new test offerings?
I asked Ellen T. Matloff, who is the former director of Genetic Counseling at Yale, one of the early plaintiffs in Association of Molecular Pathology v. Myriad genetics, and now CEO of MyGeneCounsel. Here is what she said:
Less than 2 years after the unanimous Supreme Court decision that brought down the BRCA monopoly, cancer genetic testing is now available at $249. The key question: how can we utilize these data effectively and minimize errors in interpretation, which we already know are common? The answer will be in coupling genetic test results with digital health tools that help the clinician and consumer actually understand their result, in conjunction with genetic counseling by a certified provider. These test results are only as good as their interpretation.
Ellen is working on this exact problem. As the founder of MyGeneCounsel, she is working to develop accurate information for clinicians and consumers that pair with their genetic test results, to increase best utilization and reduce errors in interpretation.
And what about getting a referral from the doctor to a trained genetic counselor? We can see from the patient’s viewpoint that doctors are often not trained to screen patients to determine who is a candidate for genetic counseling. There is a huge time constraint for doctors and genetic counselors to get through the initial screening process to determine whether someone should have genetic testing. How do we make this work so that doctors can focus on quality patient care? With the Affordable Care Act, health plans at large Accountable Care Organizations are focused are actually required to offer risk assessment services to determine which patients need to be referred to genetic counselors.
The gap now is adopting the tools to make this process seamless for patients. This is where a platform like CancerIQ comes in. Finding ways for genetic counseling to scale is a technology problem that will not be solvable by relying on the knowledge and processes within the current healthcare system. The current model in healthcare of gathering data, and interpreting testing results can take 4-6 hours per patient, and CancerIQ has been able to cut this cumbersome workflow down by 60%. CancerIQ is designing tools that can be used in any mammography clinic or primary care physician’s waiting room to determine whether a patient needs to see a genetic counselor.
One thing is clear: consumer genomics and population-wide access to BRCA testing is here to stay. As a patient advocate, I am working as an advisor for CancerIQ to lead their efforts in patient-centered design. With CancerIQ’s team of engineers, I develop tools to help make the gaps in the patient experience better, and I need input from the BRCA community. Rather than fearing this new reality, I think we need to work with patients co-design ways to make genetic counseling process seamless for everyone. We can solve these problems together.