<p>“There is a good dose of quackery in many “quick” tests. Take a look at the HPV fast tests for an example.”</p>
<p>Sure. But the manufacturer has to assess the PPV, NPV etc. by conducting a clinical trial. Then the doctors can make a decision based on that data - order another test etc.</p>
<p>xiggi, I take it that you are not a natural products chemist. This what those guys do - look for the active components in a plant or marine animal material and prepare it synthetically. There are many examples of naturally occurring compounds that were isolated from such materials and made their way through the FDA, e.g., taxol.</p>
<p>jym, I think that you can still send in your test kit – I’d suggest that you call 23andme and ask. I think the FDA letter tells them to stop “marketing” the product – that doesn’t mean to stop servicing customers who have already bought the kit. Also, there is something in the letter from the FDA about having 15 days to respond, so I don’t know if the letter is self-effectuating, like a court order – or if it is more of an “or else” type warning. That is, I honestly don’t know what powers the FDA has in terms of enforcing its own orders.</p>
<p>footballmom, I think that as an adoptee you might really enjoy seeing the results on the genealogy end of things as well as medical, if you don’t have a lot of info about where your “roots” are. You have to keep in mind that the report isn’t cast in stone, but I can tell you that my own results were very consistent with what I know of my family tree and heritage. </p>
<p>The medical stuff isn’t really something that you can take to the bank, but certainly it could be valuable in giving you some sense. I hope that the company can continue to provide this service, because it makes sense as an informal screen to get a sense of whether there are other issues that you want to follow up.</p>
<p>Of course no one should rely on the results to make medical decisions – rather, the results simply might give an indication as to whether further testing is warranted.</p>
<p>For example, getting tested for the breast cancer (BRCA) genes is very expensive – not something your insurance is going to pay for or that would be warranted if there is no indication of any need. But if the 23andme test showed that you had the gene – you’d want a confirmatory test, and with that report in hand, perhaps your insurance would pay. And that certainly is the type of information you would want to know.</p>
<p>Re post #29 – I think that the you have to answer the question yourself about psychological effects: are you the type of person to dwell over health issues? Or to fret and magnify symptoms in your own mind, mistaking symptoms of heartburn for a heart attack? If you have that kind of personality, you might want to hold off.</p>
<p>I’m pretty laid back about health concerns, and assume that any symptoms I have are normal or trivial – for example, I’m unlikely to see a doctor about cold or flu symptoms unless it has been dragging on for weeks. But my own personal 23andme results were also reassuring – all I learned is that I have a greater risk of developing gallstones. I figure I can live with that risk. </p>
<p>To me, the idea of not knowing is scarier than knowing – so I’m glad I went ahead and did the test.</p>
<p>Thanks Cal mom that’s what I was thinking, that they would have to go ahead and do the ones that have already been purchased. I’m going to look on their website and see if I can shoot them an email.</p>
<p>Hopefully, if you did have a need for medical genetic testing, you would be referred to a genetic counselor, who are trained to figure out what test you should get, discuss whether or not you even want to get that test, and then explain what the results mean when they come in and what next steps to take. And if you do have a particular mutation, they could talk to you about the potential implications for different family members and how you could inform them, if you choose to do so. If you ever do need a genetic test, I’d highly recommend that you ask if genetic counseling is available and if you could get a referral.</p>
<p>For anyone considering getting the 23andme test or who have already done so, I highly recommend that you read carefully and critically the information about what they’re actually testing for and where they’re getting that information. For instance, my understanding is that they’re only testing for the three BRCA mutations that are more common in Ashkenazi Jewish populations. If you’re not Ashkenazi Jewish (or even if you are), testing negative for a mutation on the BRCA genes does not mean that you don’t have a mutation nor does it mean that you don’t have an increased risk for breast cancer. I’m not saying the information is useless, just that not every test result will mean the same thing for every person.</p>
<p>Also, take all of the increased and decreased risk that 23andme might tell you with a grain of salt. They may be testing for mutations or markers that are commonly found in a different ethnicity than yours, or they may not be testing for all of the known mutations or markers associated with particular diseases. For instance, I believe 23andme tests for 28 markers for Cystic Fibrosis in their carrier testing, but there are over 1000 identified mutations in the CF gene that can cause cystic fibrosis. I wouldn’t recommend that anyone put too much stock into what their report says without really looking into what it’s telling you. And this should go without saying, definitely don’t make any medical decisions based on this without talking to a doctor first (even if those decisions are to skip visits to the doctor because 23andme told you that you were at “low risk” for this or that disease).</p>
<p>I’ve definitely considered doing it for fun, but I just caution people not to just take it at face value. Really consider what the report is telling you, and don’t skip medical care just because 23andme told you that you’re not at risk for something.</p>
<p>OK – but I am Ashkenazi (apparently very concentrated, at around 97%) – and it looks to me like 23andme has a very strong database to work from for my ethnic group. I understand that a test that rules out 1 gene doesn’t rule out others. The 23andme site is very clear about the limits of its BRCA test. I’m glad to know that I don’t have that particular gene. </p>
<p>One of the reasons I would want to know this stuff is for my kids as well as me. It happens that my daughter has had the genetic testing on her own through the NYU project, so she also has confirmed that she doesn’t carry the BRCA genes – but if I had it show up on a screen, I’d want to let my son know, just in case it could be passed to a future granddaughter. </p>
<p>And no, I wouldn’t skip medical care because the test says I am at low risk – I’m looking at it the other way around. If I found out that I was at higher risk for a problem, then I might make lifestyle as well as medical changes because of it. For example - the test says I am at higher risk of developing gallstones. The internet gives me some dietary suggestions that might help prevent gallstones-- so now I have one more good reason to keep the carbs and sugars low, and eat a lot of fresh fruit.</p>
<p>OK- Just sent them an email which I hope will go through as they want it from the email that placed the order (which I can’t do, but I have the order#, so hopefully that will work). Their automated response says they will respond in 4-5 days!! :eek:</p>
<p>*** ETA I found their phone #. I should send the kit back with my DS after Thanksgiving since he lives/works near the offices!! Oh wait-- it gets sent back to So Cal (the offices are in No Cal)</p>
<p>*** The hardest part for giving a saliva sample is not eating, drinking or chewing gum for a 1/2 hr before :)</p>
<p>@calmom: Most of that wasn’t aimed at you, but it was a general caution to anyone considering this sort of testing. I was just bringing up the idea of genetic counseling to you because you had mentioned not knowing how to interpret the results you got for a medical genetics test, and I was just saying (to you and anyone else reading this thread) that there are healthcare professionals that deal specifically with this sort of thing. </p>
<p>Sorry, if it seemed like an admonishment specifically directed at you–it certainly wasn’t intended that way. It was just a general reminder to everyone to be an informed consumer, especially when your health is concerned. There’s a lot we don’t know (and a lot that 23andme can’t or isn’t testing for). I’d recommend that everyone be really careful how they interpret these results (I’m not saying don’t do it because I think it sounds great, but nothing’s perfect). I know many people say they’re doing it so they can be proactive about their health and that’s fantastic, but it worries me that people might also think that they’re not at risk for something and then not take the recommended screening measures because they figure they’re fine (for instance, you can still get breast cancer even if you don’t have a mutation in BRCA–again, I’m not saying this to you specifically, but to everyone in general). Or I’d hate for someone to test negative as a carrier and then be blindsided if they end up with a child with that condition, etc.</p>
<p>Genetics is a very complicated topic, and there’s a lot we know but there’s a lot we don’t know. I’ve met a lot of people who think it’s more black and white then it actually is, so just go into it with your eyes open. Try to know what it can tell you and what it can’t.</p>
<p>There is a service and lab in our state that does some very specific genetic testing with a very reliable lab, all at no charge to the patient if you are referred and fit their criteria. I believe they’re somehow connected with our state DOH.</p>
<p>As a side note, men with BRCA genes are at increased risk for pancreatic, prostate, and breast cancer (yes, men can get breast cancer). Women are at increased risk of other cancers as well.</p>
<p>If all you do is eat more fresh fruit and less sugar you’ll probably be better off no matter what the test says. But in general, falsely or inaccurately telling you that you are at high risk of something is just as bad or even worse than telling you you are at low risk. Instead of skipping needed treatment or follow-up as you would in the case of a false negative, for a false positive you might go out and push some pliable doctor into giving you some dangerous and/or expensive treatment you don’t need. </p>
<p>Consider the example of 23&Me’s unproven and unvalidated test telling you that you are at high risk of breast cancer. This worries you and continually weighs on your mind - so you go out and get a preventive mastectomy that you didn’t need.</p>
<p>That’s why the FDA is so concerned. Even when everything is properly tested and validated, medical tests, like all diagnostic procedures, have a certain error rate. In the case of inaccurate or unvalidated tests all bets are completely off. Neither the FDA, nor your doctor, nor you have any idea whether that test is giving you valuable information, or totally misleading you, or somewhere in between.</p>
<p>Thanks for the heads up. Fortunately for me, other than the gallstone risk, the only significant condition where 23andme tags me as a carrier is male pattern baldness… and I do believe that my 30 year old son has already figured out that he’s got that gene.</p>
<p>I’m actually a little curious as to what it has to say about my “gallstone risk”. My dad, sister, and I all have really bad gallstones. We’ve both had our gallbladders removed and I think my sister is on her way there. </p>
<p>I don’t know what documentation the FDA is asking for, but 23andme lists the specific research studies for every gene it identifies – which is a whole lot more information than any medical professional ever gave me.</p>
<p>Let’s take that male pattern baldness thing. </p>
<p>Here’s what 23andme tells me about my genotype:</p>
<p>
</p>
<p>So, since I am AA for rs6625163, that means that my son certainly inherited the A from me (as I had no G to pass on) – plus there is a 50% chances that he also inherited the A version of 4s6113491, where I am AC.</p>
<p>23andme gives me 3 citations, along with Pubmed links:</p>
<p>
</p>
<p>and the report explains what this gene does (it governs action of androgen receptors). </p>
<p>Now I feel I’ve learned something about genetics about all of this. </p>
<p>I don’t know if the FDA believes that 23andme needs to demonstrate the accuracy of its DNA testing system, or if they want 23andme to produce the documentation which goes into its risk calculation or conclusions about specific genes.</p>
<p>But I do know that 23andme is giving the consumers a LOT of information. </p>
<p>It’s possible that consumers don’t know what to do with it and will read more into it than is appropriate – for example, I know that a single study of, say, 30 subjects, would not be particularly persuasive, but maybe others don’t – but I still would prefer to have the information than having some government agency deciding that I’m too stupid to be allowed to see it unless there is somebody with a M.D. around to explain it to me.</p>
Fortunately for me, other than the gallstone risk, the only significant condition where 23andme tags me as a carrier is male pattern baldness… and I do believe that my 30 year old son has already figured out that he’s got that gene.</p>