8 ms·

I spent years working for a company which performed genetic testing for a variety of conditions, germline and somatic (IE, cancer). Internally, the results we

I 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 ago
Bingo! 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?
  - Real_S 9y ago
    Short answer is yes, but it depends on the relationship and the disease. For example, if a parent takes the test and is positive for a breast cancer risk genetic variant, then all offspring will have at least a 50% chance of the same result. If, instead of a parent, a grandparent is tested, that percentage drops to 25%.
- ac29 9y ago
  23andMe costs $199, not $49. I used to do research based on DNA sequencing, and doing DNA extraction and high-volume sequencing costs way under $200 per sample. That being said, I don't know how many replicates 23andMe does per customer. If its a lot, or their prep process is more involved than I'd imagine, its possible their costs are over $200 a sample, but I doubt it.
  - a_bonobo 9y ago
    Sometimes the sale price is $49 (during Thanksgiving), NOT including shipping costs which can be large depending on country
    - anderber 9y ago
      That was for ancestry only. They charge another $99 for the health service.
- justonepost 9y ago
  The Genetic Information Nondiscrimination Act (GINA) prohibits the use of genetic information to determine health insurance eligibility or premium
  - maxerickson 9y ago
    Which is not really an ironclad guarantee it won't happen (I'm thinking in terms of the law being modified or repealed, not in terms of companies ignoring it). 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).
    - Eridrus 9y ago
      I don't think repeal of GINA is remotely likely, just look at the political discussion about pre-existing conditions on both sides of the aisle, there is no appetite for having companies accurately price insurance. 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.
  - prepend 9y ago
    But allows for life insurance, disability insurance, long term care, Amazon Prime, pretty much anything other than health insurance and employment.
    - maxerickson 9y ago
      Should we be socializing the cost of Amazon Prime and life insurance? 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.
- zerostar07 9y ago
  As long as you have some sequenced relatives, you re already profileable
- hyperbovine 9y ago
  23andme does not perform sequencing. They do array genotyping, which is far cheaper. They recently abandoned their experimental exome sequencing product, which carried a far higher price. https://www.buzzfeed.com/stephaniemlee/23andme-anne-wojcicki-next-generation-sequencing https://www.buzzfeed.com/stephaniemlee/23andme-anne-wojcicki...
  - stochastic_monk 9y ago
    They do now. They did have a facility for developing sequencing assays, but eventually they gave up. I don’t know how long it will be until they try again. (In fact, they poached a number of our employees for that initiative.)
- Real_S 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. 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.
- wbl 9y ago
  They are prohibited from doing exactly that. https://www.hhs.gov/hipaa/for-professionals/special-topics/genetic-information/index.html https://www.hhs.gov/hipaa/for-professionals/special-topics/g... Life insurers can.
  - joering2 9y ago
    Sure champ. Google never broke the law only to apologize and pay 0,00001% of their revenues as a penalty.
  - DoreenMichele 9y ago
    I worked in insurance. I have a pretty jaded view of it. 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.
- blacksmith_tb 9y ago
  The cost to sequence has been dropping very rapidly, though. Illumina's 'desktop' scanner claims to be as cheap as $25/sample[1] (and that would be high compared to doing higher volumes on the bigger machines). I would expect there to be hard limit for the reagents etc. but it wouldn't blow my mind if it isn't in the $5-$10 range. 1: https://www.forbes.com/sites/matthewherper/2018/01/08/illumina-unveils-20000-desktop-sequencer-aimed-at-sequencing-germs/#3d8e37e41000 https://www.forbes.com/sites/matthewherper/2018/01/08/illumi...
golergka 9y ago
Where's the dishonesty and "taking advantage" though? Weren't patients signing wavers for the data?
ra1n85 9y ago
I understand the motivation to leave a field if the practices are dishonest. I've been there, too. 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.
- nugi 9y ago
  'By any means' thinker eh?
Ultimatt 9y ago
Im curious why do you find that distasteful assuming there was a chain of consent somewhere in there. Data security is super important as are chains of unbroken informed consent, for using someones individual data in a study. But pharmas getting to see patient data is not something I have a problem with. If you want new cures for diseases how could you possibly have an issue with that? There is no law really stopping pharmas directly interacting with health providers, instead they choose these third party intermediaries because everyone has this unrealised "distaste" in their minds. What's distasteful about the institutions that produce cures having a clear view of the disease? Long term genetics is not even private data, once its cheap enough and portable enough there will be companies sequencing all humans from just the environment through metagenomics. What if you have a rare variant and I can see it at the local brothel as well as at a work place and at a home in large copy number. The future is Google/Facebook style of genetics regardless of what you think its going to be like. The sort of super strong blanket regulation required to block that would destroy any positive value of the technology. Your super secret data is only super secret right now because of a limit in technology and scope of the market. In 50 years genetic data will be as valued by people as their home address, especially as high value products become available for presenting companies with their data. I really dont have a problem with this. Smart watches are a larger existential threat to say insurance premiums for all of us.
- Amezarak 9y ago
  > The future is Google/Facebook style of genetics regardless of what you think its going to be like. 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.
  - cbr 9y ago
    Could you say more about how you expect this outcome would be harmful to people?
Symmetry 9y ago
At least half the reason I got a 23andMe test was so that my data could be used in research, including by pharma companies.

joering2 9y ago

Bingo! 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?
- Real_S 9y ago
  Short answer is yes, but it depends on the relationship and the disease. For example, if a parent takes the test and is positive for a breast cancer risk genetic variant, then all offspring will have at least a 50% chance of the same result. If, instead of a parent, a grandparent is tested, that percentage drops to 25%.
ac29 9y ago
23andMe costs $199, not $49. I used to do research based on DNA sequencing, and doing DNA extraction and high-volume sequencing costs way under $200 per sample. That being said, I don't know how many replicates 23andMe does per customer. If its a lot, or their prep process is more involved than I'd imagine, its possible their costs are over $200 a sample, but I doubt it.
- a_bonobo 9y ago
  Sometimes the sale price is $49 (during Thanksgiving), NOT including shipping costs which can be large depending on country
  - anderber 9y ago
    That was for ancestry only. They charge another $99 for the health service.
justonepost 9y ago
The Genetic Information Nondiscrimination Act (GINA) prohibits the use of genetic information to determine health insurance eligibility or premium
- maxerickson 9y ago
  Which is not really an ironclad guarantee it won't happen (I'm thinking in terms of the law being modified or repealed, not in terms of companies ignoring it). 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).
  - Eridrus 9y ago
    I don't think repeal of GINA is remotely likely, just look at the political discussion about pre-existing conditions on both sides of the aisle, there is no appetite for having companies accurately price insurance. 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.
- prepend 9y ago
  But allows for life insurance, disability insurance, long term care, Amazon Prime, pretty much anything other than health insurance and employment.
  - maxerickson 9y ago
    Should we be socializing the cost of Amazon Prime and life insurance? 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.
zerostar07 9y ago
As long as you have some sequenced relatives, you re already profileable
hyperbovine 9y ago
23andme does not perform sequencing. They do array genotyping, which is far cheaper. They recently abandoned their experimental exome sequencing product, which carried a far higher price. https://www.buzzfeed.com/stephaniemlee/23andme-anne-wojcicki-next-generation-sequencing https://www.buzzfeed.com/stephaniemlee/23andme-anne-wojcicki...
- stochastic_monk 9y ago
  They do now. They did have a facility for developing sequencing assays, but eventually they gave up. I don’t know how long it will be until they try again. (In fact, they poached a number of our employees for that initiative.)
Real_S 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. 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.
wbl 9y ago
They are prohibited from doing exactly that. https://www.hhs.gov/hipaa/for-professionals/special-topics/genetic-information/index.html https://www.hhs.gov/hipaa/for-professionals/special-topics/g... Life insurers can.
- joering2 9y ago
  Sure champ. Google never broke the law only to apologize and pay 0,00001% of their revenues as a penalty.
- DoreenMichele 9y ago
  I worked in insurance. I have a pretty jaded view of it. 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.
blacksmith_tb 9y ago
The cost to sequence has been dropping very rapidly, though. Illumina's 'desktop' scanner claims to be as cheap as $25/sample[1] (and that would be high compared to doing higher volumes on the bigger machines). I would expect there to be hard limit for the reagents etc. but it wouldn't blow my mind if it isn't in the $5-$10 range. 1: https://www.forbes.com/sites/matthewherper/2018/01/08/illumina-unveils-20000-desktop-sequencer-aimed-at-sequencing-germs/#3d8e37e41000 https://www.forbes.com/sites/matthewherper/2018/01/08/illumi...

golergka 9y ago

Where's the dishonesty and "taking advantage" though? Weren't patients signing wavers for the data?

ra1n85 9y ago

I understand the motivation to leave a field if the practices are dishonest. I've been there, too. 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.

nugi 9y ago
'By any means' thinker eh?

Ultimatt 9y ago

Im curious why do you find that distasteful assuming there was a chain of consent somewhere in there. Data security is super important as are chains of unbroken informed consent, for using someones individual data in a study. But pharmas getting to see patient data is not something I have a problem with. If you want new cures for diseases how could you possibly have an issue with that? There is no law really stopping pharmas directly interacting with health providers, instead they choose these third party intermediaries because everyone has this unrealised "distaste" in their minds. What's distasteful about the institutions that produce cures having a clear view of the disease? Long term genetics is not even private data, once its cheap enough and portable enough there will be companies sequencing all humans from just the environment through metagenomics. What if you have a rare variant and I can see it at the local brothel as well as at a work place and at a home in large copy number. The future is Google/Facebook style of genetics regardless of what you think its going to be like. The sort of super strong blanket regulation required to block that would destroy any positive value of the technology. Your super secret data is only super secret right now because of a limit in technology and scope of the market. In 50 years genetic data will be as valued by people as their home address, especially as high value products become available for presenting companies with their data. I really dont have a problem with this. Smart watches are a larger existential threat to say insurance premiums for all of us.

Amezarak 9y ago
> The future is Google/Facebook style of genetics regardless of what you think its going to be like. 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.
- cbr 9y ago
  Could you say more about how you expect this outcome would be harmful to people?

Symmetry 9y ago

At least half the reason I got a 23andMe test was so that my data could be used in research, including by pharma companies.