Maybe GSK has decided to target patients very precisely as standard practice in all future drug trials. This makes a lot of sense if you want a new drug to maximize efficacy or minimize toxicity by cherry picking your high responders and low intoxicants, thereby easily avoiding all folks who don't benefit from it, even if no-go patients are in the majority. But it also assumes such cherry labels will be available to physicians and insurers soon, presumably as de rigeur medical practice for the general public. Streamlining a product like 23's might make this initiative fly economically.

Done early in a drug trial, like phase II, you might be able to use deep genome data to tune up or rescue a new drug that looks promising but not quite promising enough to continue to phase III. Deep genomic analysis is a very promising way to stratify patients who will benefit from those who won't.

This looks to me like GSK has just bought into GWAIS in a big way for thousands or more patients, esp in clinical trials. This partnership can only help both companies, since I don't see a major pharma ever trying to take over 23's existing boutique geek navel-gazer business.

I'm less convinced of the value of 23 and me data in drug discovery. It could be quite useful but is not best in class. The regeneron genetics center is a much better approach imo -- sequencing data vs genotyping, access to robust medical data, partnerships with leading medical institutions to get patients and data, and a targeted biology driven strategy that reduces the cost of getting a signal. As far as cost per good potential target, 23and me is probably an order of magnitude or more behind

Not sure how 23 and me would help GSK analyze genetic subpopulations -- GSK could sequence patients just fine on their own without 23and me and get more robust data than 23 and me genotype data. For biomarker discovery once you have a candidate and are moving into clinical studies there are probably much better targeted solutions than 23 andme

Value of 23 and me is 1) brand and 2) data on large number of pts. 2) helps with finding genetic markers with low effect size which isn't really helpful for drug discovery and also finding rare variants with large effect, which is important, but there are better / cheaper ways of doing that (i.e. regeneron)

"The partners plan to use 23andMe’s data to jointly discover drug targets."

They will claim all kinds of protections of course, but it is only a matter of time until genetic data starts being resold.

Or hacked.

Is the hacker going to call me up and suggest I start taking high blood pressure medication?

Also since we're talking criminals, blackmail: eg tell your employer about your predisposition to violent mental illness or reveal your kids aren't actually your spouse's.

“Based on your genetic profile you’re 27% more likely to develop ________, talk to your doctor about how GSK’s _________ can help”

People bang on about early intervention, and it's useful for some stuff, but for a lot of stuff there's no evidence of a reduction in all cause mortality.

For example, we currently do not have a diagnostic test that can tell the difference between a virus or bacteria so physicians prescribe antibiotics just in case. If we did then we could reduce the use of antibiotics. Genomic sequencing won't help this case specifically, but sequencing at the proteomic or metabolic level may.

1. A lot of people come to a doctor with a specific prescription medication in mind based on ads alone and many doctors happily oblige and possibly even receive kickbacks from pharma.

How often is medication prescribed for a problem that could have been left alone? I suspect A LOT, based on how over-prescribed addictive and dangerous opiate painkillers are in USA.

We'll now be corralling those people not just on conditions they have, but also ones there is some research suggesting they are a higher risk to get. Maybe they'll even start taking something preemptively, because they have a 200% higher than average chance of developing a condition that affects 1 in 1M...

2. Once your genetic traits data gets to the adtech it's a matter of time before you'll see online gambling ads targeted based on research like this https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638385/ and similar things

3. Negative targeting could also become a thing:

- how about you don't show health insurance ads based on genetic markers that can result in high coverage costs? or limiting your recruitment ads to potential employees that aren't likely to have or develop diabetes?

- just checking for lactose tolerance gene would exclude most of worlds non-white population - would that be OK? that same check could be used for medication ad targeting - wouldn't even have to extended dataset

I'm fairly sure I could get you a hundred examples how it could go terribly wrong if I had a couple hours.

The general answer is that medicine is supposed to help you. But advertisers aren't paid to help you. Theyre paid to get you to buy things. And all the trickery and marketing tactics aren't conducive to getting you the correct treatment.

Having the same information available to your doctor (or an AI, ha!) that could parse it objectively would make more sense than a single pharma company. Does anyone really think that GSK is going to suggest you take Viagra (Pfizer) over Cialis (GSK product)?

“Based on your weight you’re 27% more likely to develop heart disease or cancer, talk to your doctor about how diet and exercise can help”

Which I personally think is a very good thing, but a lot of other people see as "fat shaming" and a gross violation of their human rights.

Give away or sell tests at a loss to vulnerable cancer patients in search of hope, hoard the data, and sell it to the highest bidder.

Is there a way for them to use the data "to jointly discover drug targets" in aggregate without names/identifiers?

Edit: As people bring up the insurance risk, yes I did consider that and mention it in my post. I am personally not concerned about it and think the advantages outweigh the risk. Besides, I think insurances companies are going to have all the data soon anyway. If every time I get a blood test, they have a chance to capture my DNA, how can I stop them?

For more hypothetical societal risks, I’ll cite the movie Gattica where DNA credentialism has created an underclass of people who can’t afford genetic manipulation at birth of their children. If your DNA is found wanting in that society it could be used against you in job applications, rental applications, etc.

Currently (IANAL) but I don’t think this would be legal, but once your information is out there, it’s rather hard to bottle back up.

Insurance only works as a system for society if the risk is spread among many parties, but if the insurance companies know the risk ahead of time it ceases to subsidize the unfortunate, who are left out in the cold (taxpayer funded programs and hospital ERS)

People who have serious disabilities should be supported by taxpayer funded programs, in my opinion.

Also I hope you never have my DNA. I can’t think of a reason why you should, and for one possible exercise on why you shouldn’t, please watch Gattaca.

As for your DNA: Do you take the precautions of the protagonist in Gattaca? How do you avoid leaving DNA samples in public places? How long before drones/bots/Roombas are hoovering this up at the behest of some VC?

Re DNA precautions: We just need to make hovering up DNA illegal, or selling insurance, or selling anything based on the genetic information gathered from people; make it all illegal, so I don’t have to worry about it in the same way I don’t have to worry about insurance companies breaking into my house to spy on me.

What happens when someone gets their genetic information released in a country with public healthcare, and then moves to a country with private healthcare?

I’d make an exception for science if and only if it’s full deanonymized and controlled by a nonprofit third party entity.

Currently, it's explicitly illegal under US federal law, but there is also a full-frontal assault going on against consumer protections in the health insurance market in the federal government, so absent a significant change in government direction, I wouldn't bet on it staying that way.

I think the pros far outweigh the cons.

Sure, 23andme and GSK and others will get richer off this but so what—they are doing something good.

I think few people would argue against the benefits of genetic testing, but just because it's a great thing doesn't mean that being complacent around adjacent shady business transactions is the right approach.

You can be for it, but also for privacy, protection against insurance discrimination, etc. at the same time.

I’m dead in the long run regardless, and would rather find every way I can be impactful with the time I have left, even in these small ways.

10 million tests vs 10 million person database means 1 in 10 trillion false positives happen 10 times.

Suppose a male with red hair, green eyes, and AB+ blood actually has those traits they are just not enough to unlikely identify someone. Adding more genetic traits on it's own is not enough for example you have identical twin or even triplet separated at birth. The core issue is DNA marks are not independent though people often assume they are.

Sure, at some point in the future it might get fixed or always fail, but until then you need to deal with today not some mythical perfect future.

Generally at a 7cM overlap you have 50:50 chance whether you're related to that person or not. Anything over say 150cM you're virtually certain to be related (ignoring endogamous populations). At 3,400cM (full-match) it's not even worth considering randomness.

Paternity tests involve random ~50% of your dna. Sperm samples are generally contaminated and thus less clear cut. But, people’s relatives have been used in the past for these tests dropping the bar even further.

However, being related genetically is not enough. Some people have twin siblings they don’t know about pointing out being related is not nessisarily mean you know anything about the other person allowing for false positives even at 3,400cM.

Unlikely sure, but harm comes in many forms. Saying I can’t think of anything is a long way from saying it’s safe.

If you've got a identical twin then you're right that their child will be genetically indistinguishable from your child. But that's down to the nature of genetics rather than anything to do with the reliability of testing or database size.

If a test failed because _ then it failed independent of why it failed. If your long lost twin causes you to be involved with a paternity suit or homicide investigation then that's both a false positive and a significant problem.

https://www.eeoc.gov/laws/statutes/gina.cfm

How about displaying recruitment ads to people with lactose tolerance gene, effectively excluding most of worlds non-white population?

https://www.nj.gov/oag/dcr/law.html

> It shall be an unlawful employment practice for an employer-- (1) to fail or refuse to hire, or to discharge, any employee, or otherwise to discriminate against any employee with respect to the compensation, terms, conditions, or privileges of employment of the employee, because of genetic information with respect to the employee;

No job advertising protection there

NJ (LAD):

> It shall be an unlawful employment practice, or, as the case may be, an unlawful discrimination: a.For an employer, because of [..], genetic information, [..] to refuse to hire or employ or to bar or to discharge or require to retire, unless justified by lawful considerations other than age, from employment such individual or to discriminate against such individual in compensation or in terms, conditions or privileges of employment;

Nope, nothing there either about recruitment ads..

While adverse selection is undeniably a tricky problem, the underlying raison d'etre is pooled risk, to help individuals and families mitigate catastrophic losses. Maybe you're all right with the prospect of future analyses condemning to uninsurability folks with rare combinations of alleles that turn out to be strongly deleterious. To me, this seems like breaking the regulated semi-statis between insurers and insureds, and like breaking the social contract more generally.

The whole system is going to have to adapt to more information on individuals being available.

This might or might not be an issue now (regardless of the place of residence), but laws can always be changed. And societies can always develop to be more totalitarist, even up to extremes, and it is not like the collected data just vanishes when things start to slide. (Case in point: IBM's Hollerith machines and population records)

I was very curious about 23andme and really wanted to try it. After some due diligence I concluded it is not worth it because of privacy and other implications going forward. It is not what they do today, since they don't hide the obvious sharing and datamining, so if one joins them it is through informed consent. My concern was rather what kind of systems and policies they enable eventually in the future, after the information gets sold/shared enough times to anyone who can pay enough. At this point there is no control anymore in how (and by whom) the data gets used.

Cue adverse selection. They might not be allowed to collect genetic data, but nothing stops patients from doing their own sequencing, and shop for healthcare plans depending on their predispositions, thus drastically affecting healthcare profitability.

This is not a pervasive problem yet because the tests are pretty crappy and very few people bother, but on the long run, I bet your "level playing field" hypothesis will be debated.

There are laws against age, race, and other discrimination in employment. But it still happens, and in some industries in widespread.

Greed finds a way. Your point is moot.

Why is that bad?

US insurance companies use treatment guidelines issued by organizations like NCCN (oncology). If they stray too far, they get dinged for not meeting "medical necessity" requirements.

If anything, you're more likely to get an experimental cancer drug in the US than Europe since US insurance companies don't like bad press.

[0]https://www.youtube.com/watch?v=HKQDSgBHPfY

I think you're right to be concerned about sharing of genetic data, but conflating facebook / google data sharing practices with medical data sharing is not appropriate

If the concern is that 23and me may bring the google / FB approach to personal data to healthcare then i share your concern

People underestimate how excruciating it is to collect large sample-sizes of genetic data.

The database 23andMe has is so stupidly valuable because 1. the sequencing is already done (and paid for) and 2. They can follow up with surveys electronically.

This kind of voluntary ancestry service will probably be the only way we will ever be able to collect the millions of samples needed for powered WGS GWAS analysis.

I think the 23 and me data is not sequencing data but genotype data. So it only looks at a certain type of mutation in a limited set of ~500k known mutations. I may be wrong so please correct me if so. So you won't find as many rare mutations in this data, or non-SNP mutations. Also I don't think they have robust clinical data for all subjects, it's just self reported. Again I may be wrong, I haven't done a 23 and me

This is a big deal for drug development. Each drug basically targets one protein. So you need a genetic marker that has a large effect size and is well correlated with a clinical phenotype. Not having clinical data is a big issue here. Also, 23 and mes database is not designed to find large effect size mutations -- their advantage is scale, and I think they only measure known mutations, so they are good at picking up common mutations with small effect sizes in common disease. The depression study they did is a good example of this application

But that type of study is low value for drug dev. You want large effect sizes. So if you have a big dataset, you want to find rare mutations with large effect sizes that are linked to extreme phenotypes, not common mutations with low effect size linked to common phenotypes. Basically finding more PCSK9 type mutations. Having only genotype data rather than sequencing data really hurts here

That's why I much prefer something like the Regeneron Genetic Center to 23 and me. They get robust clinical data, do while exome sequencing, and collect data from targeted populations where signalnis easier to discover.

In fact GSK was part of the RGC consortium but dropped out, dunno why. This may be their "rebound" from that

Again my assumptions about 23andme may be off bc I haven't used their product

>> The Regeneron Genetics Center (RGC) has built one of the world’s most comprehensive genetics databases, pairing the sequenced exomes and de-identified electronic health records of more than 300,000 people so far. https://www.regeneron.com/genetics-center

https://en.m.wikipedia.org/wiki/23andMe - users 5 million

My understanding is that you are saying 23andme's 5 million records are less useful for drug discovery than 300,000 records with

1. more detailed / reliable medical records 2. they do the wrong type of genetic analysis (which i don't fully follow)

Could you expand more? Can they re-use their genetic material if it was all stuck in a fridge and do the "better" sequencing?

My argument: If you are exploring genomic datasets to find new potential drug targets, then what you really want as the output are single genes that are very strongly associated with dramatic phenotypes. Drugs generally only hit one molecule, so you want a monogenic vs polygenic signal, and drugs can't hit every molecule of a given type in the body, so you want a large effect size (if you only hit 10% of the target you still want a meaningful clinical effect)

If you don't have clinical data, your genetic data is Not super valuable for target discovery. You can't correlate genetics to clinical outcomes. The more clinical data you have, the more valuable your dataset, because you can uncover more gene-phenotype correlations. So you need high quality medical records, lab data, etc. if you just have self reported data on a few diseases, you'd miss all sorts of potentially useful signals

The type of genetic analysis is also super important. 23 and me does "genotyping": they have a chip with like 500k-1M molecular probes. Each probe is designed to detect a specific "SNP" mutation, i.e. A mutation where one DNA "letter" is different. So this doesn't pick up other non-SNP mutations but that's not as important. What's more important is that there are like 10M+ (edit: prev said 360M) known SNPs and prob a lot more unknown ones. So with 23andme you are only exploring a small part of the genome

And this part of the genome is fairly well explored. While next gen sequencing is a newer tech, gene chips (what 23andme uses) have been around longer. Most common mutations have been studied. And 23andme is just studying those common mutations but at a larger scale

However larger scale isn't necessarily that great for target discovery. With larger database you can pick up 1) more relationships with small effect size and 2) more rare relationships with large effect size. Except 23andme is using a gene chip that detects mostly common mutations, and bc they have limited clinical data they will mostly have common clinical condistion in their dataset. So you can really just pick up a lot of common mutations with significant but not meaningful relationship w outcomes

If you use exome sequencing like RGC, you get much richer coverage of the protein coding genome than 23andme. So you can pick up rare mutations. And you have more clinical data (arguably having more clinical data per genome is more valuable than having more genomes), so you can pick up more gene-phenotype relationships. You need to scale your sample set so you can detect rare mutations, but do you need 5M people? The more the better but RGC has already yielded some promising targets w it's smaller dataset

RGC is also smart and targeted about the kind of patients they recruit. So there is less noise and more signal, so you don't need as many patients. For example they look at fairly genetically homogenous "founder populations" that have less background genetic variability. Like the Icelandic population -- PCSK9 was discerned by analyzing this pop

PCSK9 gene is a classic example: mutations in this gene are very strongly associated with extreme levels of LDL cholesterol. And the relationship works for both gain of function mutations and loss of function mutations, and the causality can be validated experimentally.

The effect is dramatic: patients with loss of function mutations in PSCK9 have like 10% of the normal level of LDL cholesterol

And it's a monogenic trait: you can get these extreme LDL levels just by modifying PCSK9

So this is a great target assuming you can design a molecule to "block" it (you can). You can create an antibody that can basically have the same effect as the mutation (keeping PCSK9 from doing its job) but on a smaller and less durable scale.

The drug worked at lowering LDL cholesterol. It has had mixed commercial success for a variety of reasons unrelated to its effectiveness of lowering cholesterol

So this was really the first drug discovered based on large scale genomics. Regeneron developed one of the two PCSK9 inhibitors on the market. They purpose-built RGC to find more of these

[#] insert your high quality long form news source here.

I presume that GSK thinks they can do more detailed follow up medical questionnaires on the 5m existing users than just any random sample.

But will the genetic material still be viable for retesting with the more advanced chips?

Also it would cost maybe ~$500 / person to do whole exome sequencing, so doing this at scale is quite costly. Thats another reason you need to be targeted when recruiting populations for sequencing, it is so expensive. also RGC spent a lot of money on a high throughout, heavily automated sequencing center, so they can sequence more cost effectively than most. Even the UK Biobank genomic project is using RGC to sequence their patients

Specifically, that the FDA prohibited them from proactivitely notifying users about potentially dangerous mutations. Looks like they've gotten approval for a few breast cancer risk markers now, but that's well short of what they could do.

If you're notifying users about a drug discovery program... the FDA can't gripe.

That's what the goal of https://allofus.nih.gov/ is. To collect data from 1 million people in the US.

Selling it to anyone who pays the price seems like a bad idea. Which is inevitably what will happen here the next time the company needs to "maximize shareholder value" by "utilizing its assets to their full revenue potential."

Next thing you know, I end up paying higher insurance rates because some distant relative I don't know is predisposed to some disease I've never heard of that is linked to a habit I don't have.

Again, because the insurance company is required to "maximize shareholder value."

> "maximize shareholder value"

> "utilizing its assets to their full revenue potential."

That's quite literally all that needs to be said here. How people fail to see the downside(s) to a large, multi-national, for-profit, shareholder-value-maximizing corporation, having access to (quite literally) their most sensitive information is simply beyond me. What do people expect GSK to say? "We plan to immediately redistribute this data to generate revenue - oh, and we do plan to do some research as well." GSK is not a charity. They do not run on merit, or "doing good things". They run on making - money. Any revenues from any type of wonder drugs developed via this 23&M partnership will be so far down the line (years, if they even come up with any winners). So in the mean time you can bet that they plan to get their ROI from this _investment_ via some type less than morally reputable activity.

It's shocking that so much genetic data is available, and we're barely scratching the surface, and using for fancy graphs and genealogy trees. We could be finding the cure for real diseases, and improving the lives of millions of people.

Yes, of course the pharma companies will milk the new drugs for the next couple of decades, until they lose the patent, yadda yadda, but at least we're making progress faster. Much better than the alternative - which is to wait decades for the discovery, AND wait more decades for the patents to expire...

Regarding privacy concerns, that's the least of my worries. The money available selling my genetic data (to, say, insurance companies), and the scrutiny and regulation they'd face (in many cases it'd be outright illegal - e.g., minors) is so massive that it'd be stupid to even try. There's a lot more money to be made from the exact same insurance companies by selling overpriced drugs to sick patients with health insurance.

Well there it is. You couldn't have an objective discussion about this, even if you wanted to. You (and your family) have already gone through the process. So of course you're extremely hopeful/optimistic that this works out with no problems ;)

23andMe is still held exclusively by private capital.

Nowhere in the reporting does it note GSK negotiated the right to resell 23andMe data. Furthermore, it specifically notes "[if an option is taken to extend the arrangement for a 5th year], GSK will become 23andMe’s exclusive drug target discovery collaborator."

Edit: See searine's thread below for a better discussion of why this is critically important to drug development https://news.ycombinator.com/item?id=17611775

I wouldn't be as worried about GSK reselling data to insurance companies. They already have access to sensitive health information for many many people and have had access to this data for decades. You literally cannot get a drug approved without collecting sensitive medical info on patients, because you can't tell if the drug works without collecting this data. Many drugs now require some genetic testing to be done to justify a prescription

There are many laws protecting against this type of data reselling and it also isn't really in a pharma companies business interest to help insurers. Healthcare companies tend to be very protective of and territorial with their data -- especially with enemies -- and pharma and payers aren't generally on the same side

I don't understand why there's an uproar over this but at the same time people are pushing for more medical data sharing among providers / payers etc for "population health". At the very least the absolutely certainty some people are expressing about this data being used maliciously seems unfounded. There is a massive massive difference between how data is handled in tech vs healthcare

For example: "They already have access to sensitive health information for many many people and have had access to this data for decades". In what country is this? Everywhere? You would be wrong about that, unless you mean a specific group of people that gave them this information voluntarily (in which case you made it sound a lot more exceptional than it is).

"Many drugs now require some genetic testing to be done to justify a prescription". How many? I've interacted with a lot of people who take (or have taken) prescriptions, and have met precisely zero that needed a genetic test. Of course this doesn't mean you are wrong, but maybe you have omitted critical data required for forming the opinion that you are correct. I already mentioned the number (and perhaps the type of prescription is also important). Also again, where in the world is this?

These aren't the only two claims I raised an eyebrow about, but they are a good start.

In the spirit of not wanting to seem that way myself:

* here is a link to all of the clinical studies currently being conducted by glaxosmithkline: [0]. There are 4,662 studies currently listed. This is across dozens of countries. Click around and look at the data they are collecting (look at the endpoints, inclusion / exclusion criteria, etc). This is all clinical study data, so patients have to volunteer for this, but you also have to opt in to sharing your data for 23andme. I also know of a few companies that collected lab data from patients and sold them to pharma companies so they could target them with ads; patients had to opt in to this and there were privacy protections; I'd imagine there are plenty of other examples like this.

Also, thousands of other companies have access to massive amounts of health data, genetic and otherwise: EMR companies, insurance companies, hospitals, etc. Many of these groups share information with each other all the time, including genetic information. How else could a lab share with a hospital a patients sequence data? Why is this GSK / 23andme deal particularly concerning? Is it because 23andme or GSK are viewed as bad actors?

* here is a list of FDA approved nucleic acid based tests: [1]. More and more drugs are being approved to treat patients with specific genotypes, see slide 316 [2]

[0] https://clinicaltrials.gov/ct2/results?cond=&term=glaxo&cntr...

[1] https://www.fda.gov/MedicalDevices/ProductsandMedicalProcedu...

[2] https://iabsverige.se/wp-content/uploads/InternetTrends2017R...

Seems dangerous.

While it's also possible that advertisers could use more sensitive information, such as a predisposition to gambling/obesity/alcoholism, the signal from DNA that an advertisement is likely to be effective is still probably weaker than a person's actual habits. A very unethical company could use DNA to know how to target to make "the first hit free", but I'd like to think that such egregious behavior would result in significant public backlash and possibly the introduction of regulations

Or stolen. Or both.

email I received from 23andme today. "Our top priority is you, the customer, and empowering you with the options to participate in research. As always, you choose whether or not to participate in research. You can choose to opt-in or opt-out at any time."

If you're not a customer, might not want to throw around assumptions.

I'm sure you know how an ex-cop turned out to be the infamous golden state killer.

While it's wonderful that these cold cases are now being solved, it also raises a strong privacy issue and also moral one.

If criminals know they will be caught eventually thanks to genealogy and DNA cataloging, wouldn't this drive them to get rid of the DNA altogether and escalate their crime?

Externally, they're a family company helping you understand your family history and equipping you to anticipate health problems so you can prepare for them.

Internally, in presentations to venture capitalists and in job interviews with engineers like me, the picture is quite different. They're building a genetic database and plotting world domination from a thousand different angles that most people could never have even imagined.

This stuff is straight out of a dystopian sci-fi novel.

23andMe is very similar to Google in this regard. We never imagined Google would have so much access to data, we never thought of the consequences. Now Google wields an absolutely unfathomable level of power over everyone in the world, and all anybody can really do is trust them not to abuse it.

And also trust that all future generations and governments that inherit Google will never abuse it.

23andMe is one of those companies, but we aren't just talking about your searches and communications, we're talking about genetics and humanity and life itself on a very fundamental level.

The ethical and moral dilemmas haven't been brought to light yet in a meaningful way, but it's inevitable, and they're some seriously next-level moral dilemmas. Even for Silicon Valley.

"23andMe and our third party genotyping laboratory will retain Genetic Information, date of birth, and sex as required for compliance with applicable legal obligations, including the U.S. Federal Clinical Laboratory Improvement Amendments of 1988 (CLIA), California Business and Professional Code Section 1265, and College of American Pathologists (CAP) accreditation requirements.

23andMe will also retain limited information related to your account and data deletion request, including but not limited to, your email address, account deletion request identifier, and record of legal agreements for a limited period of time as required by contractual obligations, and/or as necessary for the establishment, exercise or defense of legal claims and for audit and compliance purposes.

We recommend that you review our full Privacy Statement for more information about deleting your data before submitting your request."

So basically, once your in their system, you can't get out.

And you're paying them money for this.

Any way to do self-DNA testing?

I’m unaware of any way you could do self-DNA testing at home unless you wanted to spend $100k+ on equipment, reagents, etc. The Nanopore might be relevant but I haven’t looked into it much.

[0] https://store.nanoporetech.com/flowcells.html

[1] https://nanoporetech.com/about-us/news/human-genome-minion

Most likely, 23andMe does a "draft" sequencing.

Also I also read the value of $1000 for a draft sequencing.

I wonder, given there are about 3 millions deaths each year in USA, why isn't there some kind of government sponsored research to collect death people's genomes?

Every year, there would be 3 millions more genomes in database. People already dead don't need to have data protection or insurances risk, and there would be a full health historic and cause of death available for each genomes.

Genotyping: this is what 23andMe does. Here they’re looking at a few million locations on your genome to see what specific letter you have. These are the locations which are most typically different in humans

Whole Exome Sequenckng (WES): full sequencing of your Exome. this is an oversimplification but the Exome has historically been viewed as where the “useful” DNA

Whole Genome Sequencing (WGS): what the name implies. Can be quite useful in cancer and rare disease research, and were increasingly realizing how much of an oversimplification my explanation of WES is

Almost all commercial “sequencing” that you see advertised is genotyping. And in the real sequencing world WES dominates WGS. In both cases it is due to cost. There are also a ton of options on all of these, such as how many SNPs are on the SNP chip in the genotyping case, or depth of coverage for WES/WGS

For Prime Day, Dante Labs[2] had a sale on a 30x WGS for $349; it's still on sale for $499.

Once you have a WGS you might consider donating it to the Harvard Personal Genomes Project[3], Open Humans[4], or putting it on GitHub[5].

[1]: https://www.fullgenomes.com/whole-genome-sequencing/

[2]: https://us.dantelabs.com/products/whole-genome-sequencing-wg...

[3]: https://pgp.med.harvard.edu/

[4]: https://www.openhumans.org/

[5]: https://github.com/beaugunderson/genome

... And an additional secret $100 discount during checkout.

This is $250 WGS at 30x coverage. It should be front-page news.

I think that increased risks of x,y,z would be good to be aware of.

I don't think understanding risk would affect my decisions much either, but I'd probably get familiar with the symptoms of things I have a higher chance of to be able to recognize issues earlier. If there are screenings available, maybe I'd start doing them a little earlier or more frequently than prescribed.

so 23andme is like a unit test, and WGS is like the source code for the whole system

that said, we don't really know how to interpret most of the source code, so for a lot of cases (esp those that don't relate to medical treatment or research), 23andme is probably fine

What's the benefit of "Long Read WGS"?

This industry should be heavily regulated and have engineered security layers making sure you always know where your data is, who has or had access to it and how it can be used.

No way in hell I trust any company in the US with my genetic data if it can be tied to me. Only reason I did the kit in the first place was at my girlfriend’s insistence.

I was taken aback by 23&Me’s anti-deletion contract, but with good security, I only have them to fear. If someone less scrupulous can access it, then I depend on their own security and that cascade tends to end up on haveibeenpwned.

This type of study aims to link symptoms with genetic cause. They have actually made a pretty significant impact in genetics research. They list their publciations here https://www.23andme.com/publications/

Even worse, people are actually PAYING quite a lot to get the privilege of having that company playing with your most private data.

This field needs to be heavily regulated. In 20 years we will be able to extract all type of crazy information from DNA and it might be our biggest liability if it is shared across private companies. This will truly be the dystopian future, in which every business will make a decision based on your public DNA profile.

As everything in Silicon Valley, they are hiding behind the fact that it can be used to make "The world a better place" and cure sone diseases. It should be clear what the end goal is though.

I don't think a former personal relationship indicates the respective companies operate the same way.

> Even worse, people are actually PAYING quite a lot to get the privilege of having that company playing with your most private data.

Paying for something is a good thing. Historically in the Valley, companies for whose services you do not pay money tend to abuse your data as they use it as a source to earn money. I think in general, companies take more care of your data if the contract is explicit: I pay you money for this service, and expect corresponding controls over my privacy. Now, I'm not saying it's the case at all companies, just that I think the trend you mention is reversed.

> This field needs to be heavily regulated.

I agree. We absolutely should have better laws, and people should be able to delete their data without question (and not have remnants stored). In the EU, that wouldn't fly.

Disclaimer: I worked at 23andMe.

And claimed the laws are the ones preventing them from doing that.

I really doubt this. I've been genotyped by 23andMe and the most interesting information I've seen from their health reports are a handful of disease probabilities and some fairly useless-to-me traits (like, for instance, a probabilistic view of my hair color). Even if you jump into the fray with something like Promethease or look at data on SNPedia, each SNP only has a handful of studies and there's little to no research on hundreds of thousands of SNPs. Only a few sets have been analyzed for specific purposes like Alzheimer's and rare diseases, and those are indeed rare.

Science doesn't advance like the technology industry. It takes slow, methodical research to point to anything super conclusive. If we wanted a dystopia where job aptitude was determined by DNA, for example, we would need hundreds of studies and conclusive evidence that some genetic data indicates a very good match and not just a hunch. That research has to come from somewhere, continually be reproduced, and undergo the scientific process. That's all stuff that has to be paid for, which is something not a lot of people are willing to do.

> why would ANYONE in their right mind give their DNA to a company in Silicon Valley that is explicitely using Google as a model for Data privacy ?

It's more of a curiosity thing. I get a more complete view of myself, and we potentially help advance research in medicine and diseases. It's symbiotic.

This is about to change. The academic research going on is immense and GWAS studies coming in the 10 years will be characterizing everything - from your chance to develop cancer, to car crash or dropping out of school.

You need to be aware of what analyses of your data is being shown to you compared to what are possible and can be run in the background. It's a little bit like the Facebook telling things about you in ~2011 (your best friend is X) and then Cambridge Analytica pouring on it five years later to serve you ads that would best affect your voting pattern.

I mean, it doesn't take very long before it's worth collecting a sample without your permission.

How can this be solved though? A model where DNA is only shared if you want to, and where you fully remain in control of your data.

My father has Parkinson's and provided his DNA to 23AndMe using one of their free kits [1]. Companies like this represent a chance of finding a cure. There are certainly concerns with companies accumulating large amounts of genetic data, but huge data sets are required for deep learning and other AI methodologies. Sharing one's genetic data, and allowing other companies to form partnerships to gain access to that data, will likely represent a key step in identifying the cause (and hopefully potential cures) for such diseases.

[1] https://www.23andme.com/pd/

What I would like to see is some tighter regulations around all of this: No sharing of specific data, complete anonymization of all the data sets would be a good start

A lot of things remain a mystery in our body, especially in our brain. I'm definitely not comfortable giving a perfect map of my body/brain to a private for-profit company in Silicon Valley.

  - So you paid to give them your data
  - They patent something that in essence belongs to you
  - You need that cure you need to pay them again.

I've been thinking about this a lot since you posted yesterday and I think you're doing yourself, your relatives, and your whole ethnicity a favor IF your data is used to build better drugs.

There's a huge issue with drug testing skewing against certain ethnicities, which is why some drugs are not effective for certain people. This seems like a good solution.

Every year, there would be 3 millions more genomes in database. People already dead don't need to have data protection or insurances risk, and there would be a full health historic and cause of death available for each genomes.

Now trusting that 23andme is actually abiding by these rules is a different conversation.

They are not sharing this information with private entity aka. opt-in/out. They made partnership research & development agreement in with GSK with invest over $300MM. 23and me is not sharing our data outside their fences BUT this agreement will let them bring GSK into their playground and do all sorts of stuff with your DNA.

Worst case they will just buy the whole 23andMe as a company and once they own it, still your data technically haven't been opted-in/out anywhere, but Glaxo will do whatever they pleased with it :)

So you're saying any agreement someone has already made with 23andme in regards to their data usage has become null and void because of this investment? And would become if they were bought by another company?

Also, once you have the data, are there tools to analyze your sequencing without resorting to a web service? I don't mind setting up instances or a cluster for this purpose.

I am thinking that if genome analysis keeps improving in the insights it can provide, we could get to a point where some outcomes are predicted with near certainty. This data would be worth...infinite amounts to insurance companies.

Something about affiliates (and companies buying their way in) can't use your data without express written permission.

Probably want to call the European Union on how to get the wording right and not watered down by lobbyists.

My personal conspiracy theory is all these biometric recognition (such as face) and DNA sequencing services are serving to compile a vast human identification database. With all the Intagraming, live streaming, voice listeners, etc. it becomes much easier to have mass surveillance. Someone is wanted by the FBI? Well, maybe he'll show up in a friend's daughter's Instagram selfie, or random tourist snapping pix, or Alexa listening into his friend's home. No more need for painstaking installation of covert surveillance to get the perp. Furthermore, with access and analysis of someone's online posts, this opens up the possibility to detect future crime. I bet there is big government money now for startups that can correlate a person across all these data sources.

Plus, this doesn't have to be in the government's hands. Dark web sellers have access to all this and more with all the data breaches. Such data can be used to compile lucrative targets for blackmailing or kidnapping, along with a pattern of life to make them easy to pick up.