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FDA Will Allow 23andMe to Offer DTC Test for Three BRCA Gene Mutations – Good or Bad Idea?

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.

Do you want to read more articles like this one? Click Here.

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?



FDA will allow 23andme to offer DTC test for three brca gene mutations - good or bad idea?



Saturday 14th of April 2018

HI Nancy, Well, I am back to report on my 23 & Me BRCA results. Quick recap, I was waiting for my initial ancestry and health reports when it was announced that 23& Me would soon offer some BRCA results in all heath reports. My original reason for doing both the Ancestry and 23 & Me testing was for more info regarding my ancestry. After having breast cancer and then my younger brother getting bladder cancer with mets to some bones, I decided to look for more clues. I had a very slight concern that sometime long ago, there may have been some Ashkenazi Jew mixed in. We knew very little about my Mother's fathers family. And you have to remember there was a lot of fears and prejudices back in those generations. At 18, my grandfather came over on a boat by himself during those tumultuous years. And the rest of me is full of Polish, Russian, Lithuanian and German. All Ashkenazi regions. You know, Eastern European....... Both Ancestry and 23 & Me results were negative for Ashkenazi or what they could test for. 23 & Me did give me one positive result for a rare carrier disease, one that usually is most detected in Ashkenazi Jews. Okay, first let me say, I am still skeptical about any of these tests and am not basing any serious decisions on any results. I do find it interesting and intriguing. This is my nature, I love a good mystery. And it is my personal mystery, we all have one. Since the day I found out I had breast cancer, I became a detective. ........I wanted answers. Don't we all? Have I gotten answers? .....Ehh......... I laugh because they told me I most likely had dark hair and no red hair (it has always been kind of strawberryish, blondish, light brownish, with some good red ones mixed in) I also laughed because they said I most likely did not have a widows peak.....(my teenage years were full of frustrating blow drying episodes which I eventually gave up on) Those were the Farrah Fawcett hair days............ After viewing my reports, I must say that 23 & Me does give you a whole lot of info and is full of disclaimers. There is a lot to read and they give you plenty of references. But you do have to dedicate time to reading everything. Is it simple to read? Did I mention there is a lot to read? I actually am not sure you can make it perfectly simple. DNA is like that. It is not simple and can mutate. The variables are endless! So, I have been waiting to see when the BRCA results would become available having understood that I would get them eventually since I was an existing customer. So, I was waiting for an email. You would think you would get an email. Wouldn't you? I had already gotten plenty of emails asking to participate in research, telling me something about my caffeine consumption and asking me to take a survey about how I liked 23 & Me. So you would think you would get an email.............................. So.........on a whim, I decided that maybe if I signed into my account, I could find out if there was anything new regarding these tests. You know what? There it was, a little green box with a "NEW" in it. BRCA Report, click here to view report! Okay, I have to be honest. I was a little nervous........... I clicked on the brought me to a screen, another screen, and another screen, etc. It basically makes you read a paragraph of info/disclaimer, etc and then you have to click next. There are quite a few of these that you have to read before you get to the results. They are very specific that only 3 variants were tested for and that there are about 1,000 of them. They tell you many times that these should not be used to base medical decisions on, to diagnose disease and you should talk to a genetic counselor. I believe they are very thorough about conveying a lot of info, but it is up to the consumer to read it thoroughly, too. They are also very specific that these 3 variants are found with a greater frequency in people from Ashkenazi descent. My results were negative for all three They do tell you that this does not mean you do not have any other variants. They also provide a lot of info on cancer risk factors. These are all the same factors we have all read in our late night research when we all found out we had cancer and wondered how we got it especially if we have no apparent family history of breast cancer. The same risk factors we have read on those pretty pink brochures the doctors gave us with the pile of other brochures you carry out of the office in a daze after the first time you talk to your first cancer doctor. Remember all those firsts? I do.......I don't want to carry those piles of brochures again................. I still have a drawer full, a drawer I don't go near anymore if I can help it............ I know all the info by heart............... They give you all their references, all the medical references where they got the info from, it's a long list, too. They are plenty thorough.................... You see, I am nervously waiting for the phone call to schedule my mammogram, it will be 2 years since my lumpectomy. I had my last mammo on the "bad" boob 6 months ago, this mammo is my "regular" two boob mammo. Gawd, I am not looking forward to this one......the last one effing hurt! I'm sorry but, my boob still hurts, burns and aches, 2 years after the surgery and 1 1/2 years after radiation! The effing pills are not helping any of the pains either! You know the devil pills I speak of!

But you would think I would have gotten an email telling me the results were available, I didn't and that kind of mystifies me. So if you are sitting aound waiting for an email, stop waiting and sign in to your account, you should find it in your reports. Good luck..............

Amy Byer Shainman

Saturday 7th of April 2018

Hi Nancy XO

I appreciate you taking time to write this post.

I am one that most definitely has many concerns - I am sure you read my post: (

I was on the 23andMe webinar last Wednesday, April 4th (23andMe's New FDA-Authorized BRCA1/BRCA2 (Selected Variants), and my big takeaway was how often they reiterated that this is NOT a diagnostic test. They encourage testing be redone in a clinical setting. They showed slides of how test results would look customers and it did not appease my concerns.

One major concern is how they show the main BRCA result page will look to consumers. "Easy to understand" was a phrase that was repeated and from what I saw, I don't believe this is "easy to understand" to the average consumer.

The test result will read:

BRCA1/BRCA2 (Selected Variants)

Hmmm. "Selected Variants" is not as descriptive as it needs to be on the main page result.

To be easy to understand and fully transparent, how about: BRCA1/BRCA2 (please note, it is important for you to understand that this 23andMe test result covers only 3 out of over 1000 known BRCA1/BRCA2 genetic mutations).

They do have links to many other pages which talk about cancer risks and that the result covers only 3 out of over 1000 known BRCA1/BRCA2 genetic mutations. However, I feel strongly that THAT INFORMATiON needs to be on the FIRST PAGE.

Also, their links with extended information seemed to make everything more confusing. It seemed like they were overdoing it trying to cover their tracks but the "easy to understand" part got lost because of this.

My other questions: They also talked about the 23andMe medical page for doctors. Are general practitioners or other physicians going to rely on their test as "diagnostic"? Will doctors know to redo testing and order clinical genetic testing? If so, will they simply order the same 3 mutation panel? If they do, and it testing is negative, will they know how to counsel that patient? Will they refer to genetic counselors?

Just some thoughts. XO Amy @BRCAresponder


Wednesday 11th of April 2018

Amy, I did read your post. I agree, the info you mention needs to be on the first page. I have no idea how this will marketed, but 23andMe does have a responsibility to roll this out carefully and properly. As I understand it, the FDA authorization has some guidelines that must be met, so 23andME could lose authorization if they screw it up. Your last point emphasizes one of my main ones, everybody needs to get their acts together. I say, doctors sure as heck better know the 23andMe test is not diagnostic, and I believe they do. One thing's for sure, this topic is here to stay. Thank you for sharing your important points. Thank you for your ongoing advocacy in all this.


Saturday 7th of April 2018

This is all really interesting. I feel like I have to do more research to have a strong, balanced and educated opinion on the subject. But from what you have said, I wonder if the 23 and me test is dangerous in the sense that it doesn't provide all of the information, just part of it. And what we cancer survivors and those of us living with cancer have learned, knowledge is power. So why get a partial reading when we can get the full spectrum. It's an interesting, ongoing ethical and medical discussion.


Wednesday 11th of April 2018

Carrie, Some certainly feel it is dangerous. We've definitely entered a new era. As to your point about the full spectrum, some would say they can't afford that and this option is at least something. You're right, it's an interesting and ongoing ethical and medical discussion with no easy fixes or answers. Thank you for chiming in.


Saturday 7th of April 2018

I think that we are going to see the 23&Me marketing be just like all those *#@%& drug commercials we all hate. (Nancy, you were thinking of doing a post on that) I believe the FDA regulates that drivel, too......... Do not take this product if you are allergic to the ingredients in this product?????? How will I know? Till I take this product? I bet the ad will be mostly .........:Disclaimer Wonder if they will use someone we know to do the ad? 'Cause you know they will push this on TV....... But you have to admit that it is still a positive thing if it brings out more awareness in woman, every little piece of the puzzle is important in some way. Wonder if it will become an insurance thing too? Here is the funny, I got a discount at 23 and Me by going thru my health insurance....... I gotta coupon, basically.........LOL I'll be sure to revisit this post with my BRCA report and/or how it was handled if you are already a customer like I was when this news came out. You never know, might not be till a year from now...........?And hopefully not used against me.....hmmm


Wednesday 11th of April 2018

Tarzangela, Guess we'll have to wait and see how this all plays out. Thanks for adding to the discussion.


Wednesday 4th of April 2018

A few years ago, a friend had done the Ancestry DNA thing. I found it interesting, but didn't really feel I had to do it myself. He also decided to do the 23 and Me DNA test, it was more detailed and very interesting, too. Sure, I thought about doing that one, but since I was pretty sure I was just as German/ Swiss and Polish/Lithuanian as I was told, I wasn't compelled to pursue either test. This was before I found out I had breast cancer. I found out in the beginning of 2016 and at the very end of that year, December 26th, to be exact, I was at the Genetic counseling appointment that the cancer center sets you up with after your treatments have been completed. The appointment is for going over your family history and determining if you fit the criteria for genetic testing, for the BRCA mutations in particular. It was determined by the nice lady that I did not fit the criteria. It is like a math equation, add up all the cancer, who had the cancer, which side of the family the cancer was on, what kind of cancer, male or female, close relative or distant and you arrive at some mystical answer that determines your fate. Now I don't have any known relatives that have had breast cancer. But there has certainly been other cancers, not a lot, both grandfathers had cancer. No women were reported to have any, except one, my grandfather's sister, and it was pancreatic. She found out in her 80's and didn't live long after that. 80 years old is still a good run. But in reality, no one can be sure that from my parents and grandparents generation and before, that no women had any cancers. Medicine was not too advanced and both ethnic groups were suspicious of doctors unless they really needed one. Apparently, I also didn't have enough women on my fathers side to add to the mystical equation. The numbers just weren't there. The nice counselor lady was a little apologetic when she told me that she would try to get the insurance to cover it even though I didn't fit the criteria. But it could still cost me. I was pretty done with wanting to pay any more bills, even though my insurance had been great about covering most of the cost for everything. She told me I should decide before the year was done because of the insurance coverage thing. You know, because I had more of a chance of it being mostly paid for this year, next year I would have a new deductible to work towards. Gosh, I had 5 days to think about it. No pressure there! I chose not to pursue the matter and let 2016 fade into a memory. Or so I thought........ I wasn't truly satisfied with NOT knowing more about my genetics. I was actually kinda pissed that I didn't do it when I had the chance. That was when I thought about looking into my family tree on Ancestry. I joined up and dug in. I found the boat passages to New York of both the German and Polish sides. The Poles and Lithuanians were here before the German side. They probably left their homes during the Russian flu epidemic in the 1890's. There was a large migration of them during that time period. The Germans came during the war, my grandfather came across at 18, his siblings stayed behind and perished. The reason I mention any of my ethnicity is that all of those regions may have had Ashkenazi Jews living in them. I had no reason to believe that I had any Jewish in me, there was never any mention, all I was exposed to was the catholic church. But you never know, There are skeletons everywhere. I found the records for all the relatives that I remember from when I was young, lots of aunts and uncles on both sides, from birth to death. I was able to determine that most died in ripe old ages. Except that my Dads father died at 64 from cancer (likely environmental, but who knows?) and one of my mothers uncles died at 58 of liver carcinoma. I saw the death certificate. My mothers father died of cancer, but was in his 80's. Not a whole lot to go on, but all the ripe old agers gave me a little bit of hope that I may have a little more time to stick around. I guess that is all I was looking for. But, you know what, I still would have liked to do the BRCA test. I don't have any children, my only sibling, a brother who doesn't have any children, so I have no reason to want to know for a childs sake. I only wanted to know for my own selfish reasons, I wanted to know how much time I have left. Okay, don't get me wrong, I know better, nobody can tell you that. What would it change if I did know. Is it better to know or not know? Why are there no answers, only more questions. Why is this subject so controversial? Why is it one of the oldest questions man has asked? I decided to do the Ancestry DNA test. No real surprises, just the vague 74% Eastern European and 14% Scandanavian. Okay, the Scandanavian was a surprise. But most likely some Viking raped one of my decendents, it happened all the time way back then. That's all I got out of that test. But then we found out my only sibling, my brother who is younger at 48 years old, has metastatic bladder cancer. He had been a heavy smoker for most of his life, a huge risk factor. But then again, Hmmm..... he is doing fairly well with the chemo, and on his last round. He will then get scanned to see how the chemo worked. So now I think about how long he has left. You see, they found it in his bones, too. I decided to do the 23andme DNA test. I was still waiting for the results when the news came out about the 23andMe BRCA thing. My results came not long after the news. No BRCA results were contained in it yet, but apparently, once it is available, my DNA will be tested for it since it is already on file. So, I will wait and see.......... In conclusion, (I know, finally.....) I believe every one should have the choice to do it if they want. I believe the more info each of us as individuals add to the big picture, the more chances that someday we may find the causes of cancers or ways to prevent it, prevention, early intervention is always better than waiting till after the fact to cure something. But if the info finds a cure, we are still better off. We have to look beyond just clinical data, we need to observe the biggest mutation of all, the human race in all it's glory and eventual doom. I truly wish there was a questionnaire available to all of us regarding our cancer, side effects of the meds, a way to report in every year about what we want to say about our (here's my new word for survival) .......continuity............ All anonymous of course. Sure, I hope that my DNA won't be used for evil purposes like in the movies or used against me by someone. I would rather believe that I am contributing a small part to the big picture so that it may help someone else in the future. This is also the reason I write, in a blog like this, anonymously.......... To hopefully make a difference to someone else, no matter how small or even if they know it or not. For I now know the perpetual worry of another cancer. I try not to let it define me, but it has, whether I like it or not. I am not the same as before, I have realized my mortality. I have learned that you really have to be your own advocate, especially in the health care system. And yes, the FDA allowing such a test may seem dangerous in some ways, it certainly will set a precedence and open up the big can of worms. But I believe it was inevitable. Welcome to the TMI Age. As you should do every day, glean knowledge with a healthy skepticism, but try to keep an open mind as well. A hard task these days................. (and yes, they might be out to take your money too!) Okay, I'll shut up now.........................


Friday 6th of April 2018

Tarzangela, Thanks for sharing your story. I believe I read somewhere that you will be able to access your BRCA results if you've already purchased the test via 23andMe. I can't remember if there'll be an additional cost or not. I wonder if they'll contact you about it. I think you're right, opening up this can of worms was sort of inevitable. It'll be interesting to see how 23andMe handles things, marketing-wise.

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