There are two perspectives to examine and when I look at each side, I arrive at completely oppositional opinions. In other words, I'm disagreeing with myself. Lost yet?
23andMe is a company that will test our DNA and provide us with a vast array of information. One saliva sample and the test will produce a report including over 240 health conditions or traits. Unlocking our DNA potentially holds the keys to many breakthroughs. We may learn if we are at risk for developing a disease, researchers may find ways to interrupt the process or "repair" a mutated gene. And that's barely scratching the surface. And it's a gross oversimplification of a highly complex matter.
Yesterday, I learned that the FDA sent a Warning Letter to 23andMe directing them to stop the sale of their DNA kits pending receipt of specific information they were asked to provide. It wasn't long before discussions began on social media and my initial reaction to the announcement was completely in support of the FDA decision. It also wasn't long before a petition was drafted demanding the Obama administration overrule the FDA decision.
Having had the experience of genetic counseling before my own BRCA testing and having also experienced genetic counseling with my dear friend about a different mutation which causes a rare thyroid cancer, I understand the full ramifications of genetic testing. The key is to know what you will do with the information before the needle touches your skin for a blood draw or in the case of saliva testing, before the spit leaves your lips.
There was a rather robust discussion and I read through the articles written by a number of journalists. Matthew Herper, in his Forbes article, questions why 23andMe has not responded to the numerous requests made by the FDA. He supports our freedom to access our DNA data without the need for a middle man. I want to agree with him. However, I can't.
Many of us struggle to understand evidence based medicine when a disease is already diagnosed and being treated. Those of us who seek to facilitate this process as advocates try to break down the science so it can be understood by others who, hopefully, give that information the weight it deserves when making treatment choices. It's okay to go against the evidence (I'm speaking strictly to the lumpectomy/mastectomy debate) but not if we are doing it out of a sense of hysteria or to blanket ourselves with a false sense of security. Our reasons should be compelling. And compelling enough for me can be as simple as "I want them to match" as long as it's thought through. Thoroughly.
In the petition, it is stated that the "risks associated with services.... are understood by private consumers....." I respectfully disagree with that statement. Why? Those who are involved in the present conversation, discussion, debate in support of 23andMe are all science savvy. Unfortunately, that is not a true (or even close) representation of the majority of the population and it seems to me, the FDA is seeking to protect the rest of us.
Some of us are hand-wringers, some of us are complete hypochondriacs and some of us simply do not understand the ramifications or the significance of the information that may be gleaned from our DNA. If that is the target audience and 23andMe is all about providing individual data to any person who spits and sends along with their $99.00, I stand by my feelings. This information does not belong in some of our hands before we fully understand the overarching reach and the spider like impact some of this information may cause. If there is something identified for which there is no known cure or any preventative measures, which is 100% guaranteed to develop (Huntington's Disease jumps to my mind), is it ethical to simply provide a test without counseling a patient first? (That link is not going to work without a Medscape login)
I say no test without full understanding. Signing a disclosure when it comes to genetic testing does not constitute full understanding. It simply says, "I need to sign this in order to have the test processed." You know I'm right.
We struggle with decisions when we already have a disease diagnosis, now let's add the maybe element. If there are over 240 things being examined, how extensive is the information being provided. Am I being told the odds? Over what time period? Is this just a predisposition to something innocuous? Can it be misunderstood (Hell, yeah)? How reliable is the test itself? And most importantly, does the average patient know to ask these questions? That's where my "the FDA is right" comes from.
Please don't yell in my direction. It's my opinion. Information in unqualified hands with no place to turn for additional clarification is dangerous. Again, my opinion. And the biggest reason why I DO agree with the FDA.
Having barely scratched the surface on "the FDA is right," there is a flip side.
IF the goal of 23andMe is to crowd-source the data so there is a wealth of information available for research, then I think the FDA has overstepped and they need to back off. In this scenario, they indeed ARE standing between a patient community willing to supply information and the research community who needs that information so medical advances can be made more quickly and with greater efficiency.
I have more questions before I can truly choose a side but if it is about amassing data, the test should stay. Hands down.
If it is about individual test results, not so much. I respect those who feel differently but please consider this. You may be one of the science savvy people, or perhaps it's something to do "just because." And that's fine. But, as an advocate who is trying to look at this from many angles, a substantial group of people might be adversely affected unless 23andMe provides extensive explanations written in language that is easily understood by most when reporting results.
And still, I do believe advance understanding of the ramifications of test results is one of the most important components. In other words, pre-test counseling.......
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A very interesting debate. Though I would be interested in a DNA data bank, there is certainly a lot to take on with such a test. Thanks for bringing it to my attention. (From my gather all possible personal information perspective re Mets, this is appealing). ~Catherine
ReplyDeleteAnd this is where I completely agree with the other side, too. Those who are already dealing with disease and are searching for as much information as possible to get the most complete picture, DO understand the ramifications of the info and absolutely should not be barred from gathering it.
Deletexoxox
Good post, AM. While I agree with the goal of collecting data to try to find patterns and answers, it is important to remember that the information obtained is only as good as the data that is analyzed. Garbage in = garbage out. If 23andMe have not had their testing validated, as the FDA letter implies, then they have no business marketing these tests and collecting the data. Only when we are able to analyze validated results will we get meaningful information. Otherwise all they are doing is adding noise, when we need clarity. Just my opinion…
ReplyDeleteThanks, Dr. A!
DeleteI didn't analyze the FDA points in the letter but got a pretty good overview. Garbage in = garbage out is a critical piece of this that I didn't even address here. It really does come down to complete understanding on the part of the "consumer" as to the integrity of the information and the shortfall(s) of the tests..... even for the most science savvy. And for the rest of us, I still stick with my feelings about the need for counseling of some sort and I know we are on the same page....
If it's being marketed to the masses, it must be explained to the masses in ways they can understand. I think too many are jumping on the "taking away my right to know" bandwagon without seeing that is such a small piece of a very large picture.
FYI.... You happen to be one of those very few people I would follow blindly because you always listen to all sides and then when you share your thoughts, they always take all things into consideration. You are a hero!
AM, thanks for writing about this. I wanted to but knew I couldn't get to it this week.
ReplyDeleteI am an ancestry and genealogy buff, and I ordered the 23andme test a few months ago to verify the info I received from the ancestry.com DNA test I took to learn my ancestral makeup. (Just as an aside, my 23andme results were the same as the ancestry.com test.)
When I took the 23andme test, I did so with the understanding that I would also receive some health risk-associated details, but I had no intention of relying on the medical info they provided me. For $100, how accurate could the test be beyond analyzing where my family originated? That's how I looked at it.
When I received the email telling me my results were in, I admit I was a little apprehensive; I did not read it right away. Before you click on each section to view results, there is a warning label that appears stating that results could be upsetting and should be discussed with your physician. (I'm going off my memory here.)
It took me a few days before I clicked on all the sections. I was not alarmed by anything I read, and the only thing I remember seeing that was of interest was that I had a decreased risk of Alzheimer's Disease. I shared that info with my 81-year-old mother, and she was quite relieved! Whether it's true or not, I don't even care, because she felt better hearing that, and that was good enough for me.
I view it in the same way I view going to a palm reader… do I believe what the psychic says? No. It's entertaining, and maybe there is some truth, but I'm not going to make life decisions based on the info. I did get a kick out of it.
NOTE: I had taken the BRCA test after I was diagnosed with breast cancer in December 2010. My insurance company approved it because my sister had breast cancer at the age of 31. I did *not* have any genetic counseling — nor was it offered to me. My PCP ordered the test, and he called me with the results. I honestly didn't know this was strange until after the fact, when I spoke to other women who had been BRCA-tested. Fortunately, I was negative; I don't know how it would have been handled had I been positive.
Anyway, 23andme tests for 3 markers on the BRCA spectrum. Here is how they describe this aspect of the test: "Breast cancer is a complex disease with both genetic and non-genetic risk factors. Only five to 10 percent of breast cancers occur in women with a known genetic predisposition for the disease. In this report, 23andMe determines the presence or absence of the three BRCA mutations (two in BRCA1 and one in BRCA2) that account for the majority of inherited breast and ovarian cancer among women with Ashkenazi Jewish heritage. The absence of these mutations does not rule out the possibility that a person may have another genetic variation that increases the risk of these diseases. Aside from known genetic associations, family history of breast or ovarian cancer (especially at a young age) or male breast cancer may indicate an elevated risk for these cancers. (While men can get breast cancer, the SNPs reported here have only been associated with breast cancer in women. If a man has daughters, however, their risk may be affected by what they inherit from him.) A genetic counselor specializes in helping people understand genetic disorders and genetic test results. Learn more about genetic counseling here."
I do not have Ashkenazi Jewish heritage, and my 23andme BRCA came back negative.
I really don't know if their methods are accurate or not. Time will tell!
PS: Here is what the 23andme results said regarding me: "No copies of the three early-onset breast and ovarian cancer mutations identifiable by 23andMe. May still have a different mutation in BRCA1 or BRCA2."
DeleteJust a note on 23andMe's methodology. They're using standard genotyping equipment (the chip is Illumina--a leader in the field). Their results with respect to SNPs are as accurate as anyone's--that is, extremely. But there's more to it that just SNPs, and to get full genetic information, you need genome sequencing. 23andMe doesn't do that (yet).
DeleteRenn!!!
ReplyDeleteThank you for taking the time to write about your experience FIRST HAND which is always of enormous help. You are one of the "science savvy" people about whom I speak in my post. I laughed when you likened it to a palm reading. I agree with you on the fascination part, too. You used the information for purposes other than to guide you medically which is a very important point.
I really appreciate the time you took to share this. I love first person accounts and yours is absolutely perfect. Now, I think you do need to write a blog post... you pretty much outlined the whole thing already in this comment.
Love and hugs,
AnneMarie
According to the FDA letter, one of their concerns was that 23andMe was expanding their testing to include BRCA mutations. This apparently was not in their original application for FDA clearance and their testing has not (as far as anyone knows) been validated for this. Let the buyer beware - I'd strongly caution against using these test results as a substitute for the commercially available BRCA testing, as well as the other breast-cancer related genes that have become part of standard testing.
ReplyDeleteAM - if anyone can dig up that initial FDA application, it's you...
I didn't have 23andMe genotyping because I was sick--in fact, I hadn't been diagnosed with breast cancer when I spit into the tube. That came later. I was just curious about what it is that makes me who I am.
ReplyDeleteBecause of that, I have become far more science-savvy than I ever was in high school or college. I love genetics. I love understanding the workings of my own body as a result of examining my SNPs.
Let it be said that I'm also signed up for the Personal Genome Project, and I will take advantage of any testing opportunity offered to me.
As far as the health results are concerned, however, we have a long way to go. Based on 23andMe's genotyping, I have a decreased risk of acquiring breast cancer. We know how that turned out. But I don't expect 23andMe to be right all the time, and 23andMe makes no claims about health information. It simply provides the most up-to-date interpretation of specific SNPs. Although it provides a health report to take to one's doctor, 23andMe has been very clear about the current limitations of its data.
I believe we all have the right to know our genetic makeup (if we so choose). I also believe that low-cost genome sequencing is the future of medicine, and we can save a lot of lives that way. What the FDA is concerned about is people who make health decisions based on their data, and there's a lot of that going around, but it has nothing to do with 23andMe's health reports and everything to do with 3rd-party tools that allow an in-depth look at one's genetic raw data. Holding 23andMe responsible for what individuals are doing is not the smartest move the FDA has ever made.
Here's some factual information from a recent post at The Volokh Conspiracy (lawyers):
ReplyDeletehttp://www.volokh.com/2013/11/25/fda-overreach/
This is the chip that's used:
http://www.illumina.com/products/human_omni_express_beadchip_kits.ilmn
I read on a reliable site that the analysis is done by LabCorp. The testing itself is validated to the extent that any genotyping is validated--i.e., genetic testing is still in its babyhood, but what 23andMe does comports with the known science. The problem is that explained so eloquently by Dr. Farahany in the linked post. 23andMe makes no diagnostic claims. It does tell people what the studies have said about their SNPs.
I admit that I'm not particularly happy about what some individuals do with their data, but that's not the fault of 23andMe. And maybe that's the point. We can choose to have access to information that's above our paygrade or we can say that only qualified professionals should be allowed access to the information. That means closing PubMed and every other site that allows laymen to see the scientific research. It means going back to the days when doctors were gods, and we were at their mercy.