The recent announcement by 23andMe, stating it now has FDA authorization to report on three specific BRCA1 and BRCA2 breast cancer gene mutations associated with breast, ovarian and prostate cancer via direct-to-consumer (DTC) testing, stirred up debate. Since reading about this announcement, I’ve been mulling over my thoughts on it.
Is this new FDA authorization a good or bad idea?
As far as I can tell, I’m breaking from the way many, maybe even most, in the BRCA community think on this one. I’m not as alarmed as some seem to be. I’m okay with it. But just okay. Direct-to-consumer (DTC) genetic testing for disease risk is here to stay, so the way I see it, everybody better get their acts together. Now.
What are the concerns?
1. The biggest concern based on what I’ve read, is that only three variants will be reported on via 23andMe’s testing, two mutations in BRCA1 genes and one mutation in BRCA2 genes.
There are over a thousand more mutations in BRCA genes, genes that everyone has, by the way. In addition, there are many more mutations that have been identified in other genes that are associated with increased cancer risk.
So obviously, if you have a mutation that is not one of the three 23andMe reports on and you get a negative test result, you might think (mistakenly) you are in the clear.
But is anyone going to stop seeing her/his doctor, stop being screened, or start living a more “reckless” lifestyle (health-wise) because of a negative result from an obviously limited-in-scope 23andMe test result?
However, that possibility of misinterpretation requires that strongly and clearly stated caveats will need to be in place on 23andMe’s site regarding the test itself, as well as, regarding how results are presented. It will need to be made obvious that a negative result does not mean no cancer risk exists. If I’m understanding the FDA’s decision, these things will be required.
Easy-to-understand information about hereditary risk with links to appropriate and reputable sites should also be included when 23andMe begins marketing this test. There should be links to genetic counselors who are accessible AND willing to talk to customers. Such things seem not just reasonable, but necessary.
2. Another concern is that these three BRCA1 and BRCA2 mutations occur most commonly in people of Ashkenazi Jewish (AJ) ancestry, therefore the net is too broad.
This leads some to infer that offering this testing for the general population is pointless. True enough. Until it’s not.
Case in point, my family is not of Ashkenazi Jewish ancestry. And yet, here I am. BRCA2 positive. These mutations do sometimes occur in other ethnic groups.
Also, family histories are complicated. Again, case in point, mine is. (Read my memoir if you want the details). Not all families have access to family history, medical or otherwise.
Individuals in situations like mine who test positive for one of the three variants, will gain information of significant value that might otherwise be missed.
No matter what, some will slip through the cracks. Some always do.
3. What about counseling?
This is certainly a valid concern. Or is it? In a perfect world, I would say yes, everyone should sit down face-to-face with a genetic counselor and discuss all that’s involved here. Lots of information should get covered. Questions should get answered. Thoughts and concerns should get shared and aired. All good things, for sure. I am for those things.
But we do not live in a perfect world. Some areas of the country do not have many (or any) genetic counselors. Some genetic counselors are really great at what they do. Some, not so much. Some counseling sessions can be done, and are being done, via telephone conversations. Does that suffice?
Is counseling of any sort adequate, and is counseling even always necessary? (I’m just asking)
Maybe. Maybe not.
4. There is concern that if a person receives a positive result, she/he may be unable to decipher the result and/or figure out what to do next.
Again, if those strongly stated caveats I mentioned have been included, read and accepted as understood by the recipient, most should be able to understand the need to speak with her/his healthcare professional about what to do next. No doctor of any worth is going to rush someone into making rash decisions about undergoing a prophylactic surgery. Nor is any woman going to consider removing her breasts or ovaries without thoughtful consideration.
Let’s give people some credit.
Having said this…
Genetic test results can be complicated. For example, sometimes there are variants of uncertain significance (VUS). A negative result doesn’t always mean there is no increase risk of cancer. If you test positive, what do you tell the kids and/or other family members and when do you tell them?
Which brings us back to that perfect world in which we do not live. Which is why there are no easy answers.
5. Another concern, of which I have read little about, has to do the perception of BRCA1 and 2 mutations in the public at large.
Some are weary of the attention BRCA1 and 2 mutations receive. Think about it. How many times have you heard or read the phrase, the Angelina Jolie affect?
Sometimes, individuals impacted by mutations on other genes, feel overlooked, forgotten and unsupported. Readers have told me so. All this feeds into that false narrative that BRCA1 and 2 mutations are the only ones worth worrying about. Again, not true. This is related to #1 above, but it’s also different.
You might think by saying I’m okay with 23andMe’s newly granted authorization, I am endorsing it. I’m not. I’m just not opposing it.
What’s a better route than DTC genetic testing for cancer (or any other disease, for that matter) risk?
1. Begin by talking with your doctor.
If you want genetic testing, ask for it. I support BRCA testing in the general population for those who want it. Some don’t agree with that position, but it’s mine.
2. If you and your doctor decide genetic testing makes sense for you, or even if you’re just contemplating it, I do recommend meeting with a counselor.
3. There are other companies offering similar genetic testing for cancer risk, so do some research.
One such company is Color. This company offers a panel of tests, not just the three-variant sort that 23andMe offers. Theirs is a physician-ordered test (which is why it’s not considered a DTC test), and one complimentary consultation with a board-certified Color genetic counselor is included with purchase. This seems quite a bit better. It’s still not the optimum route, but it is another affordable route to consider, especially if your insurance company is balking and you still want to be tested.
4. Most importantly, think through your decisions.
Once your DNA secrets are out, they’re out. You can’t put the spit back in the bottle or the blood back in the vial. Be sure you want to know the information you will receive. The consequences of knowing what’s in your DNA can be huge not only for you, but also for your family members.
I’ve written about things to consider when contemplating genetic testing, so check that out, if you’re interested.
Genetic testing for cancer with a kit you order online (from any company) is not something a person should do without careful, deliberate consideration. It’s not something to do on a whim.
But should a person be able to do it?
I say, yes.
You might be thinking to yourself, this topic of genetic testing for cancer doesn’t impact me that much, but you’d be wrong. We’ve entered a new era. As J. Leonard Lichtenfeld, MD, deputy chief medical officer, American Cancer Society, states on his blog about this topic:
The gauntlet has been thrown down…This is the start of an early discussion on the value and role of genetic testing in the population at large…Unfortunately, neither our population in general nor a goodly portion of our health professional workforce is sufficiently familiar with all the nuances, questions and answers…It’s going to be a brave new (genetic) world, and perhaps it is time we start preparing for it. The announcement is but an early step in a much more complex journey.
Indeed. Again, everybody involved better get their acts together.
For me, it all comes back to the basic principle that a person is entitled to available information about her/his DNA, if she/he wants it.
Patient empowerment and patient engagement carry with them huge responsibilities. If you truly want to be in charge of your healthcare decisions, you better be taking your role seriously. Companies such as 23andMe need to be taking their roles seriously as well.
What advice would I give to someone contemplating DTC genetic testing for cancer risk?
Proceed with caution.
I’d advise 23andMe to do the same.
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What is your opinion on the FDA’s authorization allowing 23andMe to offer DTC testing for these three mutations, good idea or bad idea?
How do you feel about DTC genetic testing for cancer (and other diseases) in general? Would you utilize it?
Do you feel such testing should be physician ordered only and/or that genetic counseling should be mandatory?