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23andMe Granted FDA Authorization for Genetic Test on Cancer Risk
- 2bitencryption 9y agoso if I already did a 23andMe hereditary analysis, do I need to pony up more if I want them to reveal more about myself?
- deleted 9y ago[deleted]
- lxchase 9y agoWhat I did a while back is download the raw data and run it through https://promethease.com/ https://promethease.com/. Will tell you a lot more about risks, drug interactions. What it does is it compares your data to that of all the journal papers and research around that gene. Interestingly I have a SNP that is correlated with lack of empathy and another one that is the "warrior" gene. The BRCA SNPs would be identified.
- chrisamiller 9y agoI'd urge you to be cautious when interpreting those data. The effect size of most of these SNPs is tiny, often explaining (at most) only very small amounts of the variability observed between groups. This is especially true for things like personality traits, which have a huge environmental component. So, if finding out the empathy thing is fun, then by all means, keep poking around in your data! Promethease is probably the best of the bunch, and I've run my data through it. Just be mindful of the evidence level and effect size!
- lxchase 9y agoYes, this is a good note for anyone interested in doing this. Other things to keep in mind, the paper source, while may be peer reviewed, most likely was not reproduced (a problem in the industry in general), so would be prudent to filter on # of publications supporting the SNP correlation. Also, the report will tell you relative risk, not absolute (e.g. 1.5x increased risk of getting breast cancer). In other words, your absolute risk may be 0.00001, so it can easily be 8x and it won't really matter. The most actionable items I've found for me personally were drug interactions due to genetics. Thanks for bringing up the caveats.
- tudorw 9y agol'll second that, drug drug interactions and genetics is an under learned topic in the UK, I know that because my GP borrowed my book, 'Clinical Manual of Drug Interaction Principles for Medical Practice' :)
- refurb 9y agoYou get his update for free according to the company.
- calebm 9y agoYou can download your raw data and then look at the SNP rs numbers on: * https://www.snpedia.com/index.php/BRCA1 https://www.snpedia.com/index.php/BRCA1 * https://www.snpedia.com/index.php/BRCA2 https://www.snpedia.com/index.php/BRCA2 Example command to search for a snp: grep rs28897696 genome_your_raw_data.txt
- forapurpose 9y agoIf the current FCC approved something, I wouldn't assume that it was approved on its merits. Is the FDA better? An honest question; I don't know much about its current performance or composition, but it's under the same political control as the FCC.
- aaavl2821 9y agoI don't know much about the FCC other than reading about net neutrality, but my answer would be probably yes. For all its faults, FDA is pretty good all things considered, especially considering the lack of resources they have to do their job. The reviewers are often helpful and the conversations are very scientifically focused and objective. There are many controls within FDA to prevent corruption or outsiders to influence policy. That said, ive been involved with some decisions where FDA has clearly made questionable decisions that have set back innovation for no good reason. There are also many lobbyists pleading their case to FDA, but congress has very limited power to influence in most cases other than by writing laws (which i think is as it should be) Many companies that complain about fDA simply havent done their homework or are pushing shoddy science
- ianseyer 9y agoWhile I respect the FDAs intentions and notable positive actions, I would like to present several articles from reputable sources describing the FDA as a "revolving door" for various industries - an obvious inlet for corruption, dubious research, delayed actions, etc. As I understand it, this is a well known issue. I believe it is important to be vigilant and critical when it comes to three letter acronyms. https://www.npr.org/sections/health-shots/2016/09/28/495694559/a-look-at-how-the-revolving-door-spins-from-fda-to-industry https://www.npr.org/sections/health-shots/2016/09/28/4956945... https://www.washingtonpost.com/investigations/senators-call-for-crack-down-on-pharmaceutical-industry-revolving-door/2017/11/02/d0c3e6a2-bf34-11e7-959c-fe2b598d8c00_story.html https://www.washingtonpost.com/investigations/senators-call-... https://www.vox.com/2016/9/28/13059538/fda-drug-regulation-revolving-door https://www.vox.com/2016/9/28/13059538/fda-drug-regulation-r... http://www.modernhealthcare.com/article/20160927/NEWS/160929902 http://www.modernhealthcare.com/article/20160927/NEWS/160929...
- benwilber0 9y agoI've never done one of these genetic tests. Partly because it's scary to me to learn what diseases I'm likely to get as I get older, but also I just don't want that information in some else's database. We're very fearful of what Google and Facebook already knows about us now imagine they buy 23andMe and then join all their data about you with your DNA (which you've already willingly given up and allowed them to "profile". Google/Facebook user behavioral data + their users' DNA is about as scary invasive as it gets.
- seibelj 9y agoI wanted to know. It turns out I’m a carrier for cystic fibrosis, and my wife is not. If we were both carriers, we might have chosen to adopt children rather than have our own. So there is more to learn than just your future health. It’s also interesting seeing who my distant cousins are.
- corvallis 9y agoPre-conception genetic testing is also available through normal healthcare avenues. It even comes with highly trained genetic counselors.
- afsina 9y agoProbably very expensive.
- brokensegue 9y agoprobably covered through insurance
- fragmede 9y ago> normal healthcare avenues It's worth noting that's not a selling point for many Americans. From incomprehensible billing and having to fight for coverage with health insurance, to dealing with antiquated offices (fax? really?), never mind the hassle of scheduling an appointment over the phone, going in to an office, and seeing a doctor who's rushing you out the door, "normal healthcare avenues" is cumbersome, and persists only due to lack of real competition in the marketplace. (The doctor, of which there are really truly awesome ones, is a cog in a far larger machine.) Still, the technology that allows us to screen a fetus at 12-weeks of pregnancy is quite impressive.
- aaavl2821 9y agoI wonder how this stacks up vs other BRCA tests in terms of performance and coverage of common variants. And also whether it is cheaper to use their DTC test rather than going to a doctor and getting insurance to cover the test? I assume this is not a sequencing based test?
- refurb 9y agoApparently it only identifies two of the hundreds of BRCA variants that can lead to cancer. Good first step I guess?
- chrisamiller 9y agoIt's a SNP chip and only covers a few common mutations. To anyone who wants to know for sure whether you're at increased risk of breast cancer, you'll want to get a test that sequences all the known mutations, along with another half-dozen or so genes that can have essentially the same effect as a damaging mutation in BRCA. I'd also urge you to find a genetic counselor, who can help explain the diagnosis in detail, as well as the limitations of the each kind of test.
- marchenko 9y agoAdditionally, many harmful mutations are essentially "private" within a family and do not inform any of the GWASs used to create these SNAP chips. Regional sequencing is still important for persons with a family history of illness.
- BurningFrog 9y ago23andMe reported this gene in 2013. Then the FDA forbade the reporting. Now they're allowed to report it. What changed?
- randomname2 9y agoA new administration, including a new FDA Commissioner (Scott Gottlieb) is one
- stochastic_monk 9y agoI spent years working for a company which performed genetic testing for a variety of conditions, germline and somatic (IE, cancer). Internally, the results we accumulated were only used for providing diagnoses, estimating population frequencies, and writing papers. Other companies, however, like Guardant Health and Foundation One, initially provided inexpensive or free tests in order to build enormous patient data stores and were then bought by large pharmaceutical companies primarily for this data. In the end, the patients were the product, and the cheap/discounted tests were overhead cost in taking advantage of these people. I do not know where these companies are now, but my distaste for the industry was a large part of why I've chosen a different field of research.
- joering2 9y agoBingo! You just described 23andme, Anchestry and some others. Fun fact: you can't make any reasonable profit off of sequencing human DNA at $49 per pop. Its just won't happen. Maybe with technology in iPhone250 in year 3560, but sorry not today. Back in a day when I was a Noogler, I had interesing conversation on data scraping and purity of infornation in DNA sequencing database. Basically I was explain it will eventually be sold to insurance companies so that they could estimate your premiums better based on probability of your future diseases. As you can imagine that's a gold mine for any large or mid health insurance provider out there. I was also explained how data verofication makes sure of consistency; for example, if male order a kit (via credit card [prepaids dont work bc they cant know your identity]) but result came as female, such result would not be marked as purity and never sold. There are many other checks and balances, but you get the point. Bottom line: if you want to get the kit and test your DNA out of fun, at least make sure your identity is not obvious.
- Casseres 9y ago> if you want to get the kit and test your DNA out of fun, at least make sure your identity is not obvious. Once a relative uses the service with their real identity, even if you don't use the service yourself, wouldn't the company know your family (and thus you) have a high chance for X disease or traits?
- thegeomaster 9y agoUnfortunately, it seems that you're out of luck if you're outside of the US, but you do get the raw data regardless. Is there a tool which can help analyze this raw data? If not, I think it would be beneficial to create one, but I imagine this might be hard. Does anyone know how difficult it is to programatically test the genome, as 23andMe provides it, for various genetic disease risks? Is research on this easily available? Would a person need a significant know-how in the field, or can this be done by someone after a reasonable amount of reading on the subject?
- jgrowl 9y agogeneticgenie.org analyzes your 23andme data. You can upload raw data or just link your 23andme with oauth. It might be more narrow in scope than what you had in mind since it is primarily used to generate a methylation and detox profile. I used it primarily to determine if I had a MTFHR mutation but it was helpful since it showed other potential issues with my methylation system. I don't know how hard it would be to programmatically do, but if geneticgenie is any proof, it can be done.
- Symmetry 9y agoPromethease will tell you a pretty huge amount about your genome if you give them the raw data you got from 23andMe. https://www.snpedia.com/index.php/Promethease https://www.snpedia.com/index.php/Promethease
- GordonS 9y agoA lot of the rs numbers are however replaced by internal 'i', numbers, which makes it extremely difficult to check your results against SNPs
- stillworks 9y agoI haven't read through the T&Cs at 23andMe, but can this data be cross referred to (bought by) by insurance companies to quote me an insurance price depending on the outcome of 23andMe analysis ? Or even by mortgage providers for that matter ? Or potential employers ?
- Gatsky 9y agoHere's my view on this: This doesn't test the full gene sequence, only a few SNPs. Say someone does the test, and it comes back positive. They then call all their relatives. Those relatives have the choice of getting the same test done with 23andMe, or seeing their doctor. Usually proper BRCA gene tests are only reimbursed under certain circumstances, so mostly the relative will have to pay at least $500 to get tested properly. Most of them will just go to 23andMe. The growth in testing because of this effect is going to be significant. All the hard work of doing this kind of testing eg counselling, detailed family pedigrees, contacting family members, discussion of pros/cons of testing etc is being put back onto the individual and their healthcare providers. Good for 23andMe I guess, especially since their value seems tied to how much data they have. Whether this is net beneficial to society I'm not so sure.
- ac29 9y ago"23andMe demonstrated a high level of accuracy (greater than 99% concordance to Sanger sequencing) and precision (demonstrated by studies yielding greater than 99% reproducibility and repeatability)" Sanger sequencing is pretty accurate, on the order of 99.9%. So if 23andMe is matching those at over 99% accuracy and precision, a full sequence may not be necessary. The FDA took a long time to approve this, so I'd imagine it passes their standards as well.
- dalbasal 9y agoIf you are thinking of macro-societal impact... I think you have to ignore the specifics of this particular test and think of the impact of these sorts of test on medicine, culturally. For example, there's a sort of Principe in medicine that you shouldn't order tests unless you will action treatments based on results. For example, if you detect a risk of breast cancer that can only be avoided by mamosectamy, only do the test if you're willing to to the procedure. Otherwise, all you have is a more stressed out patient. Data gathering is totally different in medicine for such reasons. The big, relevant exception is cancer, where a statistical, risk estimating approach is commonplace. In any case, genetic testing (and other ambient data gathering) may give us good reasons to change this approach. It's a transition and taking a step from toy to medicine (this is what 23andme is doing) is en route to such a change. What could emerge downstream is personalized cancer screening protocols. Maybe you should start getting colonoscopies at age 20 and I should start at 60.
- retox 9y agoDid they ever come out and repute this article about faking results for "racists"? Yes, it's on cracked but many a true word was spoken in jest. http://www.cracked.com/personal-experiences-2522-inside-shady-world-dna-testing-companies.html http://www.cracked.com/personal-experiences-2522-inside-shad...
- m3kw9 9y agoThey probably will partner up with insurance company’s and will provide discounts if you take this test as part of your physical. And increase it if you don’t or start at a higher price for all products that the client doesn’t take the test. Yeah it’s gonna come to that
- dragonwriter 9y ago> They probably will partner up with insurance company’s and will provide discounts if you take this test as part of your physical. And increase it if you don’t or start at a higher price for all products that the client doesn’t take the test. Yeah it’s gonna come to that Even if they could do that [0], once you (and presumably they) get the results they can't discriminate based on them due to the Genetic Information Nondiscrimination Act of 2008, so there is very little incentive for them to pressure you to take the test. [0] They can't, AFAICT, also because of the GNA, though employer-sponsored insurance might be able to back door something similar through a voluntary employer-based wellness program nominally separate from insurance.
- coryfklein 9y agoInsurance companies already _can_ do this today, but the practice is uncommon or nonexistent. Why do you think that 23andMe being granted FDA authorization would be the final tipping point to begin this behavior?
- tyingq 9y agoHmm. How long before health insurers use this to, uh, "personalize" rates? Note that many have wellness programs that incent employees to present blood samples.