4 ms·

> “It’s not about the issue being half-baked,” the doctor replied, “but what the heck do we do about it, once we know, other than create high anxiety?” Loads.

by gwern 8y ago

> “It’s not about the issue being half-baked,” the doctor replied, “but what the heck do we do about it, once we know, other than create high anxiety?” Loads. Are you seriously telling me that you can't think of anything useful to do with this knowledge? (What about if he wants to have kids?) > The doctor referred Mr. Fender to a geneticist, but it turned out he did not see patients under 50 who were not symptomatic and had no family history of the disease. > Mr. Fender then tracked down Jill Goldman, a genetic counselor specializing in dementia at the Taub Institute at Columbia University Medical Center, who described a multistep process of counseling and confirmatory testing that’s been the standard of care for 25 years. She typically serves people at high risk of inheriting a disease, and insurance usually covers both the consultations and the tests. But it was unlikely to cover the costs in the absence of family history. “It was like a chicken-and-egg thing,” Mr. Fender observes. “I needed a medical test to prove to them that it was real, but I couldn’t get a medical test until I could prove to them that it was real.” > Meanwhile, he happened to see a holiday special — $69 — for Ancestry’s genetic risk test. There are problems here, but they're not with 23andMe or Ancestry.com, I don't think.

sambull 8y ago
Only problem I had with ancestry is that they sold me to a mailing list or people are mining it somehow for physical mailings. So far two separate religious organizations that my wife would have ancestry with based in their DNA tests started hard campaigning her to join the Quaker church. According to ancestry.com she was a direct descendant of some big shot in the church. I'm convinced their selling groups DNA profiles of some sort or allowing them to target them in marketing campaigns.
Gatsky 8y ago
Really? You don't see a problem with these companies selling tests to people and then dumping the cost of confirming the result and dealing with the implications on the already strained healthcare system? Meanwhile 23andMe makes billions selling the data to pharma?
- gwern 8y ago
  I don't because 23andMe didn't flag it in the first place, disconfirming it was an order of magnitude cheaper than his interactions with the supposed adults turned out to be and didn't involve any catch-22s or bullshit reasoning (a geneticist should know that family histories can be wrong and de novo mutations exist, and anyone with 2 brain cells to wire together should realize the incredible value of learning you have early-onset AD rather than paternalistically dismiss it as useless data), and the DTC companies are approaching 10 million customers with few major issues - not that this could be called a major issue in the first place. > implications on the already strained healthcare system? The healthcare system didn't do squat. That's kind of the problem here. In fact, if we're going to discuss the system as a whole, I would point out that not sequencing everyone is immensely costly and a major failing of the healthcare system, as testing would pay for itself just in terms of better dosing of drugs like warfarin. There shouldn't even be a question of learning whether you have early-onset AD, it should already be known. > Meanwhile 23andMe makes billions selling the data to pharma? They don't. The deals are in the low millions as far as is publicly known (and if you're referring to GSK's recent investment in 23andMe, that wasn't a sale). And if they are, it's not clear whether that makes 23andMe even net profitable (they're at >$1b in total VC), and even if they have revenue, that doesn't mean their investors have made 'billions', and finally, if they did, good for them, because that means they created value by subsidizing DTC testing for almost a decade, cut through the regulation, and created a large useful database on par with the UK Biobank, which wouldn't've happened otherwise. (If you don't believe me, ask someone how useful the Million Veteran Project has been compared to 23andMe or UKBB; or just do a site search on biorxiv.org...)
  - Gatsky 8y ago
    You haven't stated the population risk of having a pathogenic de novo PSEN1 mutation. This would be an essential preface to whatever argument you are trying to make about the case described in the parent article. 'few major issues' is a liberal interpretation of being shut down by the FDA. Besides, nobody is measuring the impact of the test, so how do you know there are 'few major issues'? > not sequencing everyone is immensely costly and a major failing of the healthcare system I do cancer genomics in my day job. I would not agree with this comment on any day of the week at the present time. The problem with 23andMe and their ilk is it just isn't that useful. Warfarin use is being phased out anyway, because of the many non-genetic causes of variability and the availability of drugs with more reliable pharmacokinetics. This same principle applies to the vast majority of serious medical conditions - lifestyle factors greatly outweigh any genetic component. But the biggest problem with acting like 23andMe is a useful test is they don't actually do a proper test for the most common genetic condition that leads to a serious condition with high penetrance - BRCA1 and BRCA2 mutations and breast and ovarian cancer. They don't do a proper damn test, they just test 3 out of the thousands of variants in the gene. Why do you think that is? Why don't they do a proper version of the most useful and important test, which can actually be used to prevent the patient getting cancer? The related question is - who benefits from 23andMe testing? The company or the 'Me'? Re the 'billions', which of the following is more likely: - VCs have given 23andMe >$1b in total because they think it can make multiple billions by selling the data - Any other reason

by gwern 8y ago

sambull 8y ago

Only problem I had with ancestry is that they sold me to a mailing list or people are mining it somehow for physical mailings. So far two separate religious organizations that my wife would have ancestry with based in their DNA tests started hard campaigning her to join the Quaker church. According to ancestry.com she was a direct descendant of some big shot in the church. I'm convinced their selling groups DNA profiles of some sort or allowing them to target them in marketing campaigns.

Gatsky 8y ago

Really? You don't see a problem with these companies selling tests to people and then dumping the cost of confirming the result and dealing with the implications on the already strained healthcare system? Meanwhile 23andMe makes billions selling the data to pharma?

gwern 8y ago
I don't because 23andMe didn't flag it in the first place, disconfirming it was an order of magnitude cheaper than his interactions with the supposed adults turned out to be and didn't involve any catch-22s or bullshit reasoning (a geneticist should know that family histories can be wrong and de novo mutations exist, and anyone with 2 brain cells to wire together should realize the incredible value of learning you have early-onset AD rather than paternalistically dismiss it as useless data), and the DTC companies are approaching 10 million customers with few major issues - not that this could be called a major issue in the first place. > implications on the already strained healthcare system? The healthcare system didn't do squat. That's kind of the problem here. In fact, if we're going to discuss the system as a whole, I would point out that not sequencing everyone is immensely costly and a major failing of the healthcare system, as testing would pay for itself just in terms of better dosing of drugs like warfarin. There shouldn't even be a question of learning whether you have early-onset AD, it should already be known. > Meanwhile 23andMe makes billions selling the data to pharma? They don't. The deals are in the low millions as far as is publicly known (and if you're referring to GSK's recent investment in 23andMe, that wasn't a sale). And if they are, it's not clear whether that makes 23andMe even net profitable (they're at >$1b in total VC), and even if they have revenue, that doesn't mean their investors have made 'billions', and finally, if they did, good for them, because that means they created value by subsidizing DTC testing for almost a decade, cut through the regulation, and created a large useful database on par with the UK Biobank, which wouldn't've happened otherwise. (If you don't believe me, ask someone how useful the Million Veteran Project has been compared to 23andMe or UKBB; or just do a site search on biorxiv.org...)
- Gatsky 8y ago
  You haven't stated the population risk of having a pathogenic de novo PSEN1 mutation. This would be an essential preface to whatever argument you are trying to make about the case described in the parent article. 'few major issues' is a liberal interpretation of being shut down by the FDA. Besides, nobody is measuring the impact of the test, so how do you know there are 'few major issues'? > not sequencing everyone is immensely costly and a major failing of the healthcare system I do cancer genomics in my day job. I would not agree with this comment on any day of the week at the present time. The problem with 23andMe and their ilk is it just isn't that useful. Warfarin use is being phased out anyway, because of the many non-genetic causes of variability and the availability of drugs with more reliable pharmacokinetics. This same principle applies to the vast majority of serious medical conditions - lifestyle factors greatly outweigh any genetic component. But the biggest problem with acting like 23andMe is a useful test is they don't actually do a proper test for the most common genetic condition that leads to a serious condition with high penetrance - BRCA1 and BRCA2 mutations and breast and ovarian cancer. They don't do a proper damn test, they just test 3 out of the thousands of variants in the gene. Why do you think that is? Why don't they do a proper version of the most useful and important test, which can actually be used to prevent the patient getting cancer? The related question is - who benefits from 23andMe testing? The company or the 'Me'? Re the 'billions', which of the following is more likely: - VCs have given 23andMe >$1b in total because they think it can make multiple billions by selling the data - Any other reason