3 ms·

It cost me about $99 to get my DNA mapped by them a decade ago. I used a 3rd party service to sync my results with SNPedia which returned a pretty cool report,

by shmatt 3y ago

It cost me about $99 to get my DNA mapped by them a decade ago. I used a 3rd party service to sync my results with SNPedia which returned a pretty cool report, at the top of the report was a very dangerous gene I was the first in my family to discover, and has since saved lives. 23andme added that gene to their reports at least 5 years if not more later My doctor scoffed at 23andme finding a dangerous genetic mutation and said its probably just a false positive. I had to spend $500 to get a single gene tested in a hospital, still came out positive. So bang for your buck that $99 was a great deal for a full mapping, it feels like most of their issue is what the government allows them to show. Im pretty sure that SNPedia syncer isn't online anymore, but that was what made 23andme a great service for me

ramraj07 3y ago
I'm happy that this found a dangerous mutation in your family and saved lives but what's at stake is unfortunately much larger and not worth the risk for most people IMO. You are risking the publication of the genetic makeup and vulnerabilities not just of yourself but thousands of people living today and will live for the next several generations, and to some extent in perpetuity. I don't want to condemn my family to that risk yet! I'm sincerely hoping a security first service that actually earns it's trust shows up soon!
- shmatt 3y ago
  Is there OpSec better than my local doctor or hospital? I feel like I hear about ransomware attacks on hospitals every week. My DNA was also scanned[1] and saved by a hospital before having my first child - as most people with my heritage do. So thats 3 times in my life I did genetic testing. Which one is more prone to be hacked - Mount Sinai, LabCorp, 23andme? Who knows [1] https://womenshealth.labcorp.com/providers/carrier-screening/inheritest-panels/inheritest-500-plus-panel-disorders https://womenshealth.labcorp.com/providers/carrier-screening...
  - deleted 3y ago
    [deleted]
  - malfist 3y ago
    The answer isn't who knows, it's 23andme. They were just exploited
    - guiambros 3y ago
      This 23andme screw up is unacceptable, but I agree with the parent comment -- the whole healthcare system is a mess in terms of opsec. LabCorp security lapse exposed thousands of medical documents https://techcrunch.com/2020/01/28/labcorp-website-bug-medical-data-exposed/ https://techcrunch.com/2020/01/28/labcorp-website-bug-medica... Latest hospital cyberattack shows how health care systems' vulnerability can put patients at risk https://www.cbsnews.com/news/ardent-hospital-cyberattack-health-care-system-vulnerability/ https://www.cbsnews.com/news/ardent-hospital-cyberattack-hea...
  - ramraj07 3y ago
    I wouldn't trust any of them sure. At the least the 500 disorder panel is not by itself completely dangerous to your kin though - you can't map that via genealogy. Agree it's still dangerous. Honestly I'm not sure what I'd choose if I'm presented with doing this test.
giantg2 3y ago
"My doctor scoffed at 23andme finding a dangerous genetic mutation and said its probably just a false positive." They shouldn't scoff at it, but getting a proper test before any treatment or major changes is still the right thing.
- dekhn 3y ago
  Yes, and the reason for this is the tests in the hospital and qualified/validated. That is to say, they undergo much more stringent quality checks before they make a positive (IE, predict that you have a dangerous mutation) because the cost of false positives is extremely high.
dekhn 3y ago
When I decided to have my genome sequenced, I went with Illumina's Understand Your Genome. This was a project they had to basically get rich execs to have their genome sequenced, learn their risks, and then invest in VCs investing in genomic startups (although it was just marketed as a product, Illumina had a larger goal). I had my blood taken and a whole genome sequence- a 50GB file of reads off the machine, along with variant call files that should show how I differ from the reference genome, and another variant file that called out risky variants. You can download the files (https://my.pgp-hms.org/profile/hu80855C https://my.pgp-hms.org/profile/hu80855C). When you did UYG you'd go to this fancy spa in La Jolla and they give you an iPad with the files and you also talk to some genetic counselors. I made a number of interesting observations when talking ot the counselors. The first is that they said they were confused by my report because it said I had absolutely no known risk variants (apoe, bcl, etc) and they had never seen that before. They also said, when they see some rare v ariants that they would just google for the variant and read random papers. What they said convinced me that genetic counselors, and genome tests in general, have limited applicability- there are a few genes where variants are clearly associated with negative disease outcomes, and the tests for those are very valuable (This is especially true for cancer, but other diseases as well) because they are clinically actionable. But it also showed to me that counselors are making up garbage, because scanning the raw literature for variants and assuming that because a person has that variant they will be at risk, is not a good assumption. In my mind, the variations on polygenic risks scores have convinced me that we need to build large-scale (whole-genome) models of disease that use nonlinear functions trained on extremely large-scale datasets (like UKBB) to build up wholistic predictive models that do a better job of encapsulating the complexity of biology and its relation to disease, to the point where we can actually start making useful treatments and cures for a wide-range of genetically determined diseases.
- theGnuMe 3y ago
  >In my mind, the variations on polygenic risks scores have convinced me that we need to build large-scale (whole-genome) models of disease that use nonlinear functions trained on extremely large-scale datasets (like UKBB) to build up wholistic predictive models that do a better job of encapsulating the complexity of biology and its relation to disease, to the point where we can actually start making useful treatments and cures for a wide-range of genetically determined diseases. This is exactly where AI is going in the biomedical space. However, there's more than just the genome, you need to integrate multi-omics and some of the necessary tech hasn't been invented yet.
pomatic 3y ago
Alerted by a friend who noticed his profile had changed, I checked mine. Going from having no French ancestry when first processed 5 years or so ago, I now have 12% French ancestry. That's a huge deal for me, because one of my parents was adopted. Hugely unimpressed at the lack of transparency (pro-active notification anyone?) and the overall accuracy - I don't trust these results anymore than the original, but the original did cause genuine distress.
- dekhn 3y ago
  On the other hand, my dad signed up for 23&Me and one day got a ping.. and then a few more... and a few. more. It turns out he had made a "donation" years earlier and apparently the donation was used to make a bunch of IVF which were then born. It was kind of amazing to learn that I had a bunch of half-sisters and brothers around the US. IBD is pretty reliable and it tends to get better over time (hence the late-arriving signal of french ancestry). I don't understand the "lack of transparency" and the accuracy comment you made: they didn't have the knowledge before, so presumably they reported "european" rather than a wrong country?

by shmatt 3y ago

ramraj07 3y ago

I'm happy that this found a dangerous mutation in your family and saved lives but what's at stake is unfortunately much larger and not worth the risk for most people IMO. You are risking the publication of the genetic makeup and vulnerabilities not just of yourself but thousands of people living today and will live for the next several generations, and to some extent in perpetuity. I don't want to condemn my family to that risk yet! I'm sincerely hoping a security first service that actually earns it's trust shows up soon!

shmatt 3y ago
Is there OpSec better than my local doctor or hospital? I feel like I hear about ransomware attacks on hospitals every week. My DNA was also scanned[1] and saved by a hospital before having my first child - as most people with my heritage do. So thats 3 times in my life I did genetic testing. Which one is more prone to be hacked - Mount Sinai, LabCorp, 23andme? Who knows [1] https://womenshealth.labcorp.com/providers/carrier-screening/inheritest-panels/inheritest-500-plus-panel-disorders https://womenshealth.labcorp.com/providers/carrier-screening...
- deleted 3y ago
  [deleted]
- malfist 3y ago
  The answer isn't who knows, it's 23andme. They were just exploited
  - guiambros 3y ago
    This 23andme screw up is unacceptable, but I agree with the parent comment -- the whole healthcare system is a mess in terms of opsec. LabCorp security lapse exposed thousands of medical documents https://techcrunch.com/2020/01/28/labcorp-website-bug-medical-data-exposed/ https://techcrunch.com/2020/01/28/labcorp-website-bug-medica... Latest hospital cyberattack shows how health care systems' vulnerability can put patients at risk https://www.cbsnews.com/news/ardent-hospital-cyberattack-health-care-system-vulnerability/ https://www.cbsnews.com/news/ardent-hospital-cyberattack-hea...
- ramraj07 3y ago
  I wouldn't trust any of them sure. At the least the 500 disorder panel is not by itself completely dangerous to your kin though - you can't map that via genealogy. Agree it's still dangerous. Honestly I'm not sure what I'd choose if I'm presented with doing this test.

giantg2 3y ago

"My doctor scoffed at 23andme finding a dangerous genetic mutation and said its probably just a false positive." They shouldn't scoff at it, but getting a proper test before any treatment or major changes is still the right thing.

dekhn 3y ago
Yes, and the reason for this is the tests in the hospital and qualified/validated. That is to say, they undergo much more stringent quality checks before they make a positive (IE, predict that you have a dangerous mutation) because the cost of false positives is extremely high.

dekhn 3y ago

When I decided to have my genome sequenced, I went with Illumina's Understand Your Genome. This was a project they had to basically get rich execs to have their genome sequenced, learn their risks, and then invest in VCs investing in genomic startups (although it was just marketed as a product, Illumina had a larger goal). I had my blood taken and a whole genome sequence- a 50GB file of reads off the machine, along with variant call files that should show how I differ from the reference genome, and another variant file that called out risky variants. You can download the files (https://my.pgp-hms.org/profile/hu80855C https://my.pgp-hms.org/profile/hu80855C). When you did UYG you'd go to this fancy spa in La Jolla and they give you an iPad with the files and you also talk to some genetic counselors. I made a number of interesting observations when talking ot the counselors. The first is that they said they were confused by my report because it said I had absolutely no known risk variants (apoe, bcl, etc) and they had never seen that before. They also said, when they see some rare v ariants that they would just google for the variant and read random papers. What they said convinced me that genetic counselors, and genome tests in general, have limited applicability- there are a few genes where variants are clearly associated with negative disease outcomes, and the tests for those are very valuable (This is especially true for cancer, but other diseases as well) because they are clinically actionable. But it also showed to me that counselors are making up garbage, because scanning the raw literature for variants and assuming that because a person has that variant they will be at risk, is not a good assumption. In my mind, the variations on polygenic risks scores have convinced me that we need to build large-scale (whole-genome) models of disease that use nonlinear functions trained on extremely large-scale datasets (like UKBB) to build up wholistic predictive models that do a better job of encapsulating the complexity of biology and its relation to disease, to the point where we can actually start making useful treatments and cures for a wide-range of genetically determined diseases.

theGnuMe 3y ago
>In my mind, the variations on polygenic risks scores have convinced me that we need to build large-scale (whole-genome) models of disease that use nonlinear functions trained on extremely large-scale datasets (like UKBB) to build up wholistic predictive models that do a better job of encapsulating the complexity of biology and its relation to disease, to the point where we can actually start making useful treatments and cures for a wide-range of genetically determined diseases. This is exactly where AI is going in the biomedical space. However, there's more than just the genome, you need to integrate multi-omics and some of the necessary tech hasn't been invented yet.

pomatic 3y ago

Alerted by a friend who noticed his profile had changed, I checked mine. Going from having no French ancestry when first processed 5 years or so ago, I now have 12% French ancestry. That's a huge deal for me, because one of my parents was adopted. Hugely unimpressed at the lack of transparency (pro-active notification anyone?) and the overall accuracy - I don't trust these results anymore than the original, but the original did cause genuine distress.

dekhn 3y ago
On the other hand, my dad signed up for 23&Me and one day got a ping.. and then a few more... and a few. more. It turns out he had made a "donation" years earlier and apparently the donation was used to make a bunch of IVF which were then born. It was kind of amazing to learn that I had a bunch of half-sisters and brothers around the US. IBD is pretty reliable and it tends to get better over time (hence the late-arriving signal of french ancestry). I don't understand the "lack of transparency" and the accuracy comment you made: they didn't have the knowledge before, so presumably they reported "european" rather than a wrong country?