23andMe Granted FDA Authorization for Genetic Test on Cancer Risk
mediacenter.23andme.com
mediacenter.23andme.com
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.
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.
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?
But the solution to the insurance problem is pretty obviously at the societal level. Once the testing is cheap enough, if they are allowed to, companies will just refuse carriage to people that won't submit the DNA (well, assuming that DNA profiling provides meaningful pricing information).
I think the fact that health insurance premiums are the #1 thing brought up in privacy discussions is basically evidence of the fact that we all know that insurance is a bad model for healthcare, but we can't bear to socialize it yet.
Because that's what removing information from the pricing of premiums does, it shifts costs from higher risk individuals to lower risk individuals.
For life insurance, something like the US already does with Social Security (directly providing support payments to minors) probably makes more sense than forcing private insurers to omit information from their pricing. I'm a little less certain about disability and LTC, but those are also already somewhat socialized (Medicaid is the payer of last resort in both situations).
But for life insurance? There's nothing pernicious about someone paying the correct actuarial price for a multi-million dollar contract.
Since your genes are unchangeable (currently) it means some people in society will not be at a significant disadvantage if they can’t buy disability insurance or long term care insurance. This has ramifications throughout society.
There’s a lot to be said for paying the correct actuarial price. But I suppose you could also charge different races different prices for their actuarial differences.
So society needs to determine what things they distribute for justice. Social security is one form of this. But it seems unfair that one person with Alzheimer’s will suffer and die in a Medicaid nursing home because they can’t afford long term care insurance during their asymptomatic years while another with Alzheimer’s will use their long term care for appropriate end of life care.
There’s a separate issue of why the poor have bad end of life care. But today the current example takes place because gene testing excludes some from insurance.
https://www.buzzfeed.com/stephaniemlee/23andme-anne-wojcicki...
DNA can be used to identify the person it came from!!!
If you send off your DNA with a different name, there are many ways that they can use to determine that a different name was used. Traits estimated by the DNA could, at least in theory, be used to figure out who you might be. And if your relative is already in the system, your identity may be trivial to uncover.
I wouldn't hold my breath counting on every insurance company to do right by their policyholders. If the world were so filled with paragons of virtue, we wouldn't need to make laws about it and detail what the consequences are for disobeying them.
1: https://www.forbes.com/sites/matthewherper/2018/01/08/illumi...
However, did you note whether or not these efforts may have been positive contributions to the healthcare of humans? I would imagine gathering health data from a large population has the potential to yield remarkable results.
I would rather die at 35 of a genetic disease than live my entire life in the dystopia you describe. If we need a Butlerian Jihad, so be it. The fact that so many in this thread take the opposite attitude is terrifying to me. As far as I'm concerned, genetic technology represents an existential threat.
Yes, it would be fantastic if we could take the good without the evil, but it doesn't look like we're capable of doing so. Nevertheless the attitude of many is that technology (and not just genetic tech) will march on, and damn the consequences.
http://jokes4us.com/dirtyjokes/castrationjoke.html
Historically, IQ tests were frequently used to justify racism and anti immigrant sentiment. IQ tests are strongly influenced by things like culture, so outgroups typically perform less well on them.
You need to be very skeptical as to the mental models being applied to something you cannot currently change, like your genes.
I have a genetic disorder. I was diagnosed late in life. So I had been managing my condition a long time without a diagnosis and getting a diagnosis empowered me to get a lot healthier. I have been endlessly crapped on for talking about that online because people are sure it cannot possibly be true. This is where identifying someone's genes gets very dangerous because our current mental models frame genes as inescapable destiny and such widespread belief tends to become self fulfilling prophecy by cutting you off from other options.
One night years ago, I dreamed of someone with chains around their neck that they could not remove from that end. The solution in the dream was to break the chains at the other end in order to get free, though it would not entirely free them of the burden of forever carrying these chains around. They at least we're no longer trapped.
I interpreted this dream to mean that the chains are my DNA, which I cannot escape. But I can change my diet and lifestyle. It isn't a cure, but it beats the hell out of what conventional medicine has to offer me.
It is the equivalent of saying "No, thanks, doc. I will keep my nuts and go get bigger undies." And I live in fear of the possibility that someday I shall be told that getting bigger undies is not a valid choice and I must submit to castration for my own good and the good of the larger community. (metaphorically speaking since I don't actually have any nuts)
What if a genetic disorder is determined by screening close family (parents, siblings, first cousins)? Could an insurance company reasonably determine that the trait exists within the family, thus block coverage as a "likely" pre-existing condition? Or worse, force a person to be tested if they want coverage?
What are the odds those consent forms will have blanket permissions? Allowing for fishing expeditions.
Are you really comfortable with one company owning so many parts of patient care? I'm not.
Google/Facebook user behavioral data + their users' DNA is about as scary invasive as it gets.
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.
I mean, besides being denied health insurance because of what someone might find in your DNA, why are you so afraid of something even having your DNA, because it might result in GATACA-like society? If so, we need strong legal protections against discrimination by DNA, but we can't throw out the baby with the bathwater.
There's too much good that can be done to human wealth and welfare by eradicating disease and paranoia about theoretical danger should be challenged into laws to protect against discrimination.
What do you think Facebook + DNA is going to do to harm you? Try to sell you a pharmaceutical or medical treatment? A cure for balding or erectile disfunction?
The GATTACA society is rapidly becoming reality, just not institutionalized yet.
People strongly consider race in dating; we're kind of already there: https://blog.okcupid.com/index.php/race-attraction-2009-2014...
CF is a homozygous recessive disorder. Both parents have to contribute a defective gene in order for the child to have CF. If one parent is a carrier and the other is not, there is zero chance of the child having CF, barring random mutations which have been known to happen. If both parents are carriers, there is a 50 percent chance the child will be a carrier, a 25 percent chance the child will have no defective genes and a 25 percent chance the child will have CF.
If you actually have CF, you have two defective genes and you can only produce children who are either carriers or who have CF, depending on the genes contributed by the other parent. If the other parent is not a carrier, the children cannot have CF.
As someone who both has CF and has raised a child with it, I absolutely do not want more children with CF. It's a horrible burden for the parents and only a deeply sick sadist would wish such a thing upon their child.
I have never lacked for male interest. I don't know why the hell that is because I'm quite open about my medical situation. I am now menopausal, so it is a moot point. But I absolutely spent some years agonizing over how to screen out CF carriers from the dating pool. Having another child with CF is one of my worst nightmares. I would rather be taken out and shot.
This is genetics 101.
There is a difference between hand wavy "runs in the family, but we don't really know how it works" and a bona fide genetic disorder whose alleles have been mapped to some degree or another.
Edit: To be perfectly clear, if it is not genetic and merely tends to run in families, it may be due to a variety of nongenetic factors, such as diet and lifestyle. Smoking also tends to run in families. Smoking is not a genetic disorder, though it significantly impacts health.
If it is not genetic, it's heritability is not going to show up on your 23 and me profile. Fretting that it will basically means you don't know what you are talking about.
"Runs in families" needs to be very clearly distinguished from genetic disorders per se. The former suggests correlation with an as yet unidentified cause or causes, as there may be various contributing factors. The latter is a case of identified cause.
Easy enough to confuse if your own life does not depend upon it, but absolutely not the same thing.
"I don't really have much to offer, but this DNA surveillance company says I have great genes!"
I understand the negatives of having everyone compare genes can get kinda "master race"-ish but at the same time it is still heart breaking for kids to be born with stuff that could be prevented.
For people really heart-set on having children, I think it would be important to know your odds ahead of time before you get to the point of "ok lets have a kid together".
If you're actually looking for a pie in the sky answer, what happens when one if these entities gets popped and someone (state actor?) takes regional data to produce a very effective targeted bioweapon?
But the real answer is: you tell us when you find out the hard way. In the meantime, my personal info, of any kind, will continue to be protected, to the very best of my ability.
When medical research even begins to use the massive amount of data they already have on patients from billions of routine visits, tests and hospitalizations productively, we can think about giving them more. We are so laughably far from that point that adding more data to the mountain doesn't make sense.
I have.
I was 26 or thereabouts (it's been a while), in good health, but had one "touch base" appointment in my prior 2 year medical history (what the prospective insurer wanted, at that time). The appointment had no ongoing medical/treatment implications; it was simply a follow-up with a prior provider. Fortunately, a friend of a friend ran my application "unofficially" by the insurer's underwriters; if it had been a formal application, the result would have ended up in a cross-insurer database of decisions made whether to insure. Yes, there actually is -- was, certainly, at that time -- one, and if you landed in it with a "deny", getting anyone else to insure you became an order of magnitude more difficult. So I was told by this industry professional -- again, as a favor to my professional contact and friend.
More recently, I've had a minor condition that an eminent surgeon refused to operate on. Cost/benefit didn't merit it; his recommendation was simply to monitor.
When I changed from employer provided insurance to individually insured, I was denied. There was nothing I could do, and the condition did not hinder me in any way. Nonetheless.
Again, through the fortune of having a (different) professional contact and friend in the industry, with an allied company, I was able -- via a flaw in their processing of the application -- to get a re-evaluation. And a policy written, albeit with a rider excluding that condition.
But their initial reaction, before I "pulled strings"? They didn't offer me a policy with an exclusion rider. Nope, just "deny".
SO, many people who are paranoid about this kind of thing and "their health data getting around", are for damned good reason.
I agree, the knowledge and health benefits of sharing this data could be enormous. Think of what it could do for epidemiology. Best practices. Etc. Etc.
But, you want me to share it? You want me to sign on to a public program of same. You're going to have to guarantee that the data won't be used against participants.
As in, you do so use it, and you personally go to jail with a felony conviction and a multi-year sentence. And your company gets severely penalized and, if the behavior is widespread and with significant negative outcomes for those discriminated against, its own "death penalty".
You want the data? Demonstrate your good will. In ironclad terms.
The Affordable Care Act's full enactment came just in time, for me.
Unfortunately, all legislation consists of two essential components: 1) The law, itself; and 2) funding (the budget process).
Republicans baldly stated, after Obama's election, that their primary, number one objective was to make him a one-term president. Before all else.
Despite its coming out of what was essentially a Republican design, then Governor Romney's health care insurance program in Massachusetts, Republican's went after the Affordable Care Act -- after labeling it "Obamacare" -- with a vengeance.
A primary way they crippled it, was by not providing the funding that was written into the law.
Insurers were given a 2 year time frame in which they could recoup their losses, until new participants' "deferred care" was taken care of and the companies had better demographics and cost projections (actuarial studies) upon which to carry forward.
When they went to the government to be made whole, under this provision, they were paid about 15 cents on the dollar.
So of course, premium costs increased dramatically, plan options became more limited, and companies started to exit the ACA marketplace.
Meanwhile, the Republicans made endless attempts to "repeal" the ACA in one fashion or another. Claiming they had a "better plan", that would provide better coverage at lower cost.
Now, they've had both houses of Congress and the executive for over a year. Still no sign of an actual "plan". Just continuing efforts to destroy the ACA.
So, going forward? No, I don't think this problem of pre-conditions can be considered solved. The party in power keeps trying to reintroduce it.
And I, for one, have no more trust in our society. Maybe I'll find another position that includes an employer-provided group insurance plan. Or a group plan through a professional organization.
If I didn't have various things tying me here right now, including elderly parents, and I had the opportunity, I'd leave the country.
I've always lived modestly. And it seems that is even part of my problem. The U.S., always somewhat hypocritical, is becoming more and more a land of "winners" and "losers".
Just look at our "fearless" leader, using the "L" word -- quite derogatorily -- left and right. If we're supposed to take our cue from our leadership, well then, f-ck this place.
Calling anything that comes out of MA "republican design" is a little less than truthful.
Regardless of how you feel about the merit of the MA system or the federal system there are no republicans in MA, just democrats who will say what they need to say to run against incumbent Democrats.
I could also live with a system like Germany's, where insurers are private but the state requires equal treatment and effective systems of cost control.
No system's perfect, and every system needs to be effectively managed.
I've long since come to the point of wondering how much the U.S. behavior actually negatively impacts other countries' health care systems.
In many ways more indirectly that this following, but also explicitly in Canada, they keep pushing for increased privatization. Want that marketshare, and to be the middleman between patients and services.
I think the good part is that we have a very good state healthcare, it's non-optional for basically 99.9% of the population.
The sad thing is that our actual healthcare system (doctors and hospitals) are in need of workers and doctors which leads to them preferring the privately insured patients.
[0]:https://www.wsj.com/articles/china-snares-innocent-and-guilt...
The primary goal of business is to make money. Or, in other words, to isolate us and make us feel inadequate so we buy more things with money we don’t have to impress friends we don’t have.
I mean, if I was being cynical. I’m not, but if I was...
In all seriousness though, with as much good as this data can do, it belongs to the public, not to the highest bidder.
Also, regulations go ignored and legal protections are only available to people who can afford a lawyer who can prove wrong doing.
I'm sure sure how that would work? How do you send a bio sample over the internet?
The Alice company would either put DNA collection kits for sale on Amazon or tell people where they can buy a kit that meets the required criteria for collection.
Then people pay the company in bitcoin (how to separate your bitcoins from your identity is left as a exercise for the user) and once they've paid they're provided an input field to enter a public key they've generated.
The website would then generate a barcode you'd use to label your sample before mailing it in, or it could be a QR code of your public key.
When a sample arrives at the lab they scan the barcode, and check to ensure that there is a public key tied to that bar code and that they've paid.
They then run the sample and publish the results online, accessible to all, but also encrypted with that users public key.
The user then checks the website every day for week after they've sent their sample in. Once they find their results by searching all results for the one labeled with their public key they download the results and then use their private key to unencrypt them.
""But its for the good of humanity, so don't worry about any possible downside.""
Personally, I am trying to develop molecular cryptography, so that genetic data can be protected even if, theoretically, we cannot trust our computers.
Definitely not sequencing, though.
The ancestry stuff is really really cool too. I'm 2.7% neanderthal! My whole family discovered aspects of our history that we didn't expect.
You're not just making this choice for yourself, you're making it (to some degree) for everyone you are or will ever be related to. That has profound implications that people aren't entirely considering when they spend the $50 (or whatever) and spit in a cup.
At the time, I ignored the fact that it said I was 4x more likely to develop colon cancer (I was in early 20s). My sister was diagnosed with colon cancer 3 years ago. When you are a woman diagnosed in your early 30s, apparently it is due to genetics. She discovered it by going to three different doctors after insisting she wasn’t feeling well and that it felt “deeply internal”. The doctor who suggested a colonoscopy did so because he had an internship for a year at a cancer clinic in Boston. The others thought it was in her head. Well they found a malicious tumor and the prognosis from the nations leading cancer clinic was to remove her colon, her uterus and ovaries and large intestines (in their entirety). You can imagine this is a lot to ask of anyone. We asked for data that supported the conclusion that if we don’t remove all of these parts the cancer would spread to her ovaries and kill her and there was literally none to be had. It was 100% based on the doctors personal experience (again we were at one of the top clinics in the world for this).
There is something structurally off with the modern medical system. I believe it relies too heavily on anecdotal experience and memory. I don’t know about you but I can’t remember what I ate yesterday. I think services like 23andMe are on to something, if only as a data point to empower patients to self advocate. We did nothing with the data but he moment I got the phone call I couldn’t help but wonder if we could have found this earlier.
On a semi-related note, I've had a few conversations with physicians about the utility of AI in medicine, and all of them seem to be adamantly against any technology that displaces the individual doctor as dictator/hero of the medical hierarchy.
In one memorable exchange with a surgeon (and friend), I pointed out that doctors, like most other educated humans, are pretty terrible at applying statistics to any kind of complex decision-making - and I brought up your observation that doctors are limited to the knowledge/anecdotes/heuristics that fit in their own heads. Why not employ some kind of machine intelligence to at least aid in diagnosis, double-check treatment plans, prevent medical errors, etc? My friend abruptly changed the subject and began waxing poetic about how his decades of experience allowed him to glean enormous amounts of information from the mere tactile sensations of a loop of bowel in his hand during surgery. How would a machine replicate that, he asked. The conversation wasn't even about robotics.
I don't have a lot of faith that doctors - outside of a few pioneers - will begin using medical expert systems until they are forced to.
I think AI in medicine can be great, especially if you start using it to augment a physician by keeping them up to date with the most recent research/papers/literature on a given topic.
I have a spreadsheet that I actively log the total amount of time I spend with my doctors and their staff when I see them in person. All I am going to say is god bless nurse practitioners.
Excuse me if I am intruding and do please disregard my question if you prefer not to answer.
I'm presuming your sister did not follow the therapeutic regimen recommended to her. If this is the case, would you mind sharing what treatment she did pursue and whether she is currently in remission?
In any case, I hope your sister is well as she can be. I hope also that you and the rest of your family remain healthy despite your genetic predisposition.
I am happy to chat about this and she is as well to the extent you wish to go straight to the source. After her recovery, she organized a group of young mom's that meet regularly to help each other cope with cancer (and what she considers to be the more onerous issue - the thought of not seeing your kids grow up).
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.
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.
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.
There is definitely a science of designing and performing useful diagnostic tests. I have seen many cases of illogical or misinformed testing that has harmed patients physically, psychologically and financially. I ultimately believe that more information is better, however, so far the transition to more direct consumer testing is failing miserably (eg Theranos, or all the companies claiming SNPs can help design dverything ftom skin care to exercise regimens). Then there are just crackpots who coerce vulnerable patients into expensive and totally unproven, never-to-be validated tests that cost thousands of dollars.
(I have no affiliation)
Or even by mortgage providers for that matter ? Or potential employers ?
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.
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
I believe it is important to be vigilant and critical when it comes to three letter acronyms.
https://www.npr.org/sections/health-shots/2016/09/28/4956945...
https://www.washingtonpost.com/investigations/senators-call-...
https://www.vox.com/2016/9/28/13059538/fda-drug-regulation-r...
http://www.modernhealthcare.com/article/20160927/NEWS/160929...
What changed?
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?
I don't know how hard it would be to programmatically do, but if geneticgenie is any proof, it can be done.
http://www.cracked.com/personal-experiences-2522-inside-shad...
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.
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!
* https://www.snpedia.com/index.php/BRCA1
* https://www.snpedia.com/index.php/BRCA2
Example command to search for a snp: grep rs28897696 genome_your_raw_data.txt