7 ms·

I really liked the old 23andme and was an early customer. I felt it did a good job of presenting scientific conjecture with notes on confidence and how to use t

by krrrh 9y ago

I really liked the old 23andme and was an early customer. I felt it did a good job of presenting scientific conjecture with notes on confidence and how to use the data. It gave me some encouragement to cut down on my caffeine consumption, and to exercise more to try to influence specific gene expression, and if I was a carrier for a serious genetic disease, I definitely would want access to that information. I logged in recently after not looking for a few years and was so disappointed with what the site has become--essentially ancestry astrology with the defaults presenting a preposterous level of precision on your racial mix. I'd like to think that this was just a result of inflexible regulation from the FDA, but I suspect that they are also bending to market demand for meaningless information like how 1 or 2 of your 64 great-great-great-great-grandparents happened to share some genetics with a bunch of people from the Asian steppes. On the other hand... I do enjoy reading about identitarians of all stripes having emotional crises when they learn that they can't claim purebred status.

Trundle 9y ago
This might be useful for people yearning for the good old days. http://slatestarcodex.com/2014/11/12/how-to-use-23andme-irresponsibly/ http://slatestarcodex.com/2014/11/12/how-to-use-23andme-irre...
subcosmos 9y ago
I run a nonprofit project that gives more of the advanced data back to 23andMe users. I try my best to avoid the ethical/legal grey areas by not giving any kind of disease predictions, and instead provide a search service that links your genome to academic papers. These citations and references are what I miss the most from 23andMe's old reports. Would love feedback! https://www.infino.me/genetics https://www.infino.me/genetics
- krrrh 9y ago
  It looks interesting. Would be great if you had the option to upload raw 23andme data rather than just connecting to the account, as some people probably have concerns with giving up their identity along with the information.
  - subcosmos 9y ago
    I haven't considered that would be an issue. Great point! I plan to eventually build a parser for Ancestry.com, which lacks an API but has a similar raw format to 23andMe. When that gets done I'll lump them together.
    - carbine 9y ago
      ^ Agreed with above -- when I've discussed this with my more privacy-minded friends they always raise a concern about their data getting into the hands of insurance companies down the road, and having their premiums affected. Data security would be something I'd think quite a bit about, but I like the sound of what you're offering.
      - subcosmos 9y ago
        These issues certainly keep me awake at night. I'm really glad that we have laws like GINA that protect us from having our medical insurance change due to genetic testing. I hope that congress preserves these protections, and further applies them to other forms of insurance (like life insurance). This nonprofit of mine was born out of a lifetime of dealing with a rather serious medical issue. With full genome sequencing, I was able to finally diagnose myself as having a rather severe mitochondrial disorder. I've been worried that knowledge of the mutation would affect my medical care, but I finally reminded myself that the mutation was already making me quite ill to begin with! The biochemical concerns are now much more worrisome than the hypothetical insurance or discrimination concerns. I've grown relieved in the realization that finally knowing whats up will likely do more good than bad.
- Ultimatt 9y ago
  A big problem with your site is it links to stuff as if its significant/important/real. Nearly every single variant I followed through on was basically bogus. An intronic variant with like 50% of the population having it.... Literally doesn't matter how many GWAS studies have associated that with a greater risk of breast cancer. The risk difference by definition is nothing. Its meaningless to state clearly on your site "breast cancer". You might want to avoid ethical/legal grey areas. But who is your site aimed at? It has none of the information a scientist would want, or a clinician would want... But does have misleading absolutist linking of variants with papers and diseases?
  - subcosmos 9y ago
    My site is aimed at people who want to dig deep into the literature. I don't say any of it is significant or real. I say "here's a paper that thinks it's real. Go read it". I can certainly do better to qualify things more clearly. I've been working in genetics for some time and what I have noticed is that all of these markers start as an unjustified signal in GWAS studies with no biological proof. Eventually however, some clever biologists eventually figures out the role of that gene in model organisms, and the locus becomes more confidently verified. Many of the markers for obesity, for example, have been thoroughly vetted now as being significant and having a well explained role in physiology. They show up in the brain centers that regulate metabolism. My mission for that project is to provide links/searches into the literature for educational reasons, so that I can inspire people to pursue careers in science and figure out what the unknown genes actually do. Just because a single SNP variant has a high penetrance in the population and a low overall risk doesn't mean that the gene itself isn't extremely important. Genotype arrays like 23andMe only test a small fraction of the genome. What we are finding is that many of these common variants are co-inherited with rare variants that are the actual sites of functional importance for a trait. So just because a SNP on a genotype array has a low risk, the gene can still be profoundly relevant.
Symmetry 9y ago
You can always export your genetic info from 23andMe and plug it into SNPedia. The user interface isn't as nice but it has more SNPs listed than 23andMe did.
- WillPostForFood 9y ago
  You can also export to Found My Fitness for some free detailed reports focused around diet/cardio health. https://www.foundmyfitness.com/ https://www.foundmyfitness.com/
Cd00d 9y ago
What in your genetic makeup told you to cut down on caffeine? I'm a passionate coffee drinker, and have been sipping coffee the entire day since my teen years, so I'm interested in what you identified as a risk.
- maxerickson 9y ago
  Perhaps https://www.snpedia.com/index.php/Rs762551 https://www.snpedia.com/index.php/Rs762551 There's an allele that leads to slower caffeine metabolism.
- krrrh 9y ago
  There is a SNP that determines whether you are a slow or fast metabolizer of caffeine. Depending on your genes coffee consumption has been linked to breast cancer and heart attack rates. Mostly I always had assumed I was a fast metabolizer and could get away with drinking loads of coffee, and realized that I was pinning my metabolism and getting poor quality sleep. I was better off titrating down and finding alternatives. https://www.snpedia.com/index.php/Rs762551 https://www.snpedia.com/index.php/Rs762551 Even though 23andme doesn't present this information anymore, as noted elsewhere on this thread, there are other websites such as promethease, genetic genie, found my fitness, SNPedia, etc, which you can upload your raw data to. Some focus on specific topics.
hannob 9y ago
> I really liked the old 23andme and was an early customer. I felt it did a good job of presenting scientific conjecture with notes on confidence and how to use the data. It gave me some encouragement to cut down on my caffeine consumption, and to exercise more to try to influence specific gene expression, and if I was a carrier for a serious genetic disease, I definitely would want access to that information. So I wonder what exactly in the 23andme data made you do these things. I don't know about your caffeine intake, but if you drink a lot then I could've told you to limit it without any genetic data. And I certainly could've told you to exercise more. Don't get me wrong: I'm not opposed to genetic testing. If people want to know their genes, ok. (I have done a 23andme test myself.) But realistically there isn't a lot of data that is useful for lifestyle changes. The idea is "If I have disease X risk in my genes I can do something against it". However "something" usually means "exercise, eat healthy, don't smoke, avoid injuries, do all the boring stuff everybody knows". You don't need a genetic test to tell you to go to the gym for your health.
- jcrben 9y ago
  The APOe4 (https://www.snpedia.com/index.php/APOE https://www.snpedia.com/index.php/APOE) gene's connection to Alzheimer's is one of the most well-studied. Roughly, if I recall correctly, one allele doubles your risk and both multiplies it even further. There's some evidence (probably weak, but still) that exercise limits that risk https://well.blogs.nytimes.com/2014/07/02/can-exercise-reduce-alzheimers-risk/?mcubz=3 https://well.blogs.nytimes.com/2014/07/02/can-exercise-reduc... Now, you could say "everyone should exercise", and maybe so. But any tangible evidence for the long-term benefits helps. Sure, there's general evidence of benefits, but in my (limited, dated) exposure to the literature, general exercise research is not necessarily compelling enough, especially given the difficulties in pulling out correlations between exercisers and other associated activities or traits. I find exercise boring, and I'm definitely looking to minimize exercise necessary to maximize its benefits. By the way, the genetic research on predisposition to side effects to drugs and such is also extremely compelling. It's sad that the medical world is still so far from even trying to do precision medicine.
- krrrh 9y ago
  Sure. Everyone knows they should exercise more, but what tips the balance in general, and what tips it on a day when you feel like crap and would rather surf Hacker News or go back to bed? Friends or family you exercise with, a loved one getting sick, a realization that your body doesn't work as it used to when you throw your back out, a gym opens up near your house? Which straw strengthens the camel's resolve? I wouldn't say that 23andme data was the only or even main factor, but for someone with a scientific bent, having read a few studies that showed an x% improvement in odds on avoiding a disease that I didn't want in populations with specific genes that I shared provides an extra bit of motivation on some days. I already exercised, but progress in health isn't binary, it's about frequency and repeated effort. Miss a significant percentage less workouts over a few years and the $99 on genetic testing easily pays for itself.
devy 9y ago
As the article pointed out, 23andMe's original business model of selling genetic testing kit to consumers didn't fly after FDA's mandate of banning them and they only gain 10 related gene testing approval since 2015. So they pivoted. As the article pointed out again, I still think they have some very interesting ways to generating more revenues like making drugs(a far stretch) or gene related disease analysis (fertility, breast cancer, etc.)
SEJeff 9y ago
Reminds me of this (very much NSFW) Chapelle skit: http://www.dailymotion.com/video/x3a3f0f http://www.dailymotion.com/video/x3a3f0f So many of the identitarians believe in eugenics, and then find out much of their current racial makeup comes from Africa: https://www.theatlantic.com/science/archive/2017/08/white-nationalists-dna-ancestry/537108/ https://www.theatlantic.com/science/archive/2017/08/white-na... I can't say I mind the schadenfreude. Bigots of all types should be educated.
- Simon_says 9y ago
  What does that even mean? Everybody's ancestors come from Africa.
  - SEJeff 9y ago
    TL;DNR: It means white racists got really upset when they found out this fact that they were part African per their DNA. I laughed a lot when this made the news.
ams6110 9y ago
> if I was a carrier for a serious genetic disease, I definitely would want access to that information I'd much rather get that information from an MD who is at least bound by HIPPA regulations, than by a VC funded internet startup.
- cm2187 9y ago
  I completely agree with your distrust of a random startup, but I encourage you to exercise more caution about your MD. Not that he may have bad intentions but because most of them aren't really computer geeks and your personal information is quite likely to end up on a lost USB stick or out in the wild because of a bad shared password. I grew up in a family of doctors, and I heard things like them considering to sue google because a patient managed to find his medical record by googling his name. They are scientists, very educated people, but that doesn't mean they understand all technologies.
- wonderous 9y ago
  Is anyone able to providing a notable source on 23andme and their position on HIPAA regulations?
  - dekhn 9y ago
    Do you have a specific question? Their position is that they follow the law where it applies to them.
  - dragonwriter 9y ago
    23andMe isn't a HIPAA covered entity, and HIPAA regulations don't apply to then at all.
- ptero 9y ago
  I would much rather get it done anonymously through a VC funded startup than through an MD who is going to unambiguously tie it to my person, log it into an "approved" and "secure" storage and may be required to report it based on some currently unknown set of conditions ("do you have a predisposition to X? let us alert the right folks so they can check you out, just for your own benefit") I understand that with personal genetics you are unlikely to stay anonymous against a determined effort, but ATM I personally trust my government "trying to do good" less than I trust a random stranger who wants to make a predictable profit for his business. Just my 2c.
40acres 9y ago
> but I suspect that they are also bending to market demand for meaningless information like how 1 or 2 of your 64 great-great-great-great-grandparents happened to share some genetics with a bunch of people from the Asian steppes. What if some people really want to know this? My family is from the Caribbean, I will never be able to trace back my family history as deep as others because my ancestors were slaves, 23andme seems like a great service. Especially in a time with so much racial animosity in the US, maybe if people had a deeper look at where they come from they would have sympathy for others.
- epmaybe 9y ago
  That's surprisingly a thoughtful observation that I never would have considered since I don't have that problem. I feel kind of bad for disregarding my carribean girlfriend's results now.
  - askafriend 9y ago
    We're talking about $200,000,000 here. There's no space in the room for sentimental value with a round like that. It's got to be brutally practical and be able to scale.
    - epmaybe 9y ago
      oh of course. If I understand correctly, the FDA has already approved them to provide genetic testing for 10 diseases. That is the big sell they are going for. They have plenty of data from the sentimental folks like me to play with.
- kilroy123 9y ago
  Yup, I agree. My mom was adopted so I can't trace anything on one side of my family. That's why I did the ancestry test. She met her biological parents before they died, but has little info about family history.
danielfoster 9y ago
I'm also disappointed. I can only recommend downloading your raw data and purchasing a report from Promethease. All the data is there, you just need another service to provide it.
smsm42 9y ago
Agree, I expected more from them by now. I mean, I know they had trouble with FDA and it's fun to learn how many Neanderthal genes I have, and there's a bunch of interesting info they delivered, but for 6+ years I am on their site, I expected more. Maybe more useful info beyond entertainment. E.g. they say I am predisposed to weigh above average. OK, why don't you give me some useful personalized advice? What they have is "eat well and exercise". Duh, I could read it anywhere. Maybe indeed it's a consequence of FDA meddling?

by krrrh 9y ago

Trundle 9y ago

This might be useful for people yearning for the good old days. http://slatestarcodex.com/2014/11/12/how-to-use-23andme-irresponsibly/ http://slatestarcodex.com/2014/11/12/how-to-use-23andme-irre...

subcosmos 9y ago

I run a nonprofit project that gives more of the advanced data back to 23andMe users. I try my best to avoid the ethical/legal grey areas by not giving any kind of disease predictions, and instead provide a search service that links your genome to academic papers. These citations and references are what I miss the most from 23andMe's old reports. Would love feedback! https://www.infino.me/genetics https://www.infino.me/genetics

krrrh 9y ago
It looks interesting. Would be great if you had the option to upload raw 23andme data rather than just connecting to the account, as some people probably have concerns with giving up their identity along with the information.
- subcosmos 9y ago
  I haven't considered that would be an issue. Great point! I plan to eventually build a parser for Ancestry.com, which lacks an API but has a similar raw format to 23andMe. When that gets done I'll lump them together.
  - carbine 9y ago
    ^ Agreed with above -- when I've discussed this with my more privacy-minded friends they always raise a concern about their data getting into the hands of insurance companies down the road, and having their premiums affected. Data security would be something I'd think quite a bit about, but I like the sound of what you're offering.
    - subcosmos 9y ago
      These issues certainly keep me awake at night. I'm really glad that we have laws like GINA that protect us from having our medical insurance change due to genetic testing. I hope that congress preserves these protections, and further applies them to other forms of insurance (like life insurance). This nonprofit of mine was born out of a lifetime of dealing with a rather serious medical issue. With full genome sequencing, I was able to finally diagnose myself as having a rather severe mitochondrial disorder. I've been worried that knowledge of the mutation would affect my medical care, but I finally reminded myself that the mutation was already making me quite ill to begin with! The biochemical concerns are now much more worrisome than the hypothetical insurance or discrimination concerns. I've grown relieved in the realization that finally knowing whats up will likely do more good than bad.
Ultimatt 9y ago
A big problem with your site is it links to stuff as if its significant/important/real. Nearly every single variant I followed through on was basically bogus. An intronic variant with like 50% of the population having it.... Literally doesn't matter how many GWAS studies have associated that with a greater risk of breast cancer. The risk difference by definition is nothing. Its meaningless to state clearly on your site "breast cancer". You might want to avoid ethical/legal grey areas. But who is your site aimed at? It has none of the information a scientist would want, or a clinician would want... But does have misleading absolutist linking of variants with papers and diseases?
- subcosmos 9y ago
  My site is aimed at people who want to dig deep into the literature. I don't say any of it is significant or real. I say "here's a paper that thinks it's real. Go read it". I can certainly do better to qualify things more clearly. I've been working in genetics for some time and what I have noticed is that all of these markers start as an unjustified signal in GWAS studies with no biological proof. Eventually however, some clever biologists eventually figures out the role of that gene in model organisms, and the locus becomes more confidently verified. Many of the markers for obesity, for example, have been thoroughly vetted now as being significant and having a well explained role in physiology. They show up in the brain centers that regulate metabolism. My mission for that project is to provide links/searches into the literature for educational reasons, so that I can inspire people to pursue careers in science and figure out what the unknown genes actually do. Just because a single SNP variant has a high penetrance in the population and a low overall risk doesn't mean that the gene itself isn't extremely important. Genotype arrays like 23andMe only test a small fraction of the genome. What we are finding is that many of these common variants are co-inherited with rare variants that are the actual sites of functional importance for a trait. So just because a SNP on a genotype array has a low risk, the gene can still be profoundly relevant.

Symmetry 9y ago

You can always export your genetic info from 23andMe and plug it into SNPedia. The user interface isn't as nice but it has more SNPs listed than 23andMe did.

WillPostForFood 9y ago
You can also export to Found My Fitness for some free detailed reports focused around diet/cardio health. https://www.foundmyfitness.com/ https://www.foundmyfitness.com/

Cd00d 9y ago

What in your genetic makeup told you to cut down on caffeine? I'm a passionate coffee drinker, and have been sipping coffee the entire day since my teen years, so I'm interested in what you identified as a risk.

maxerickson 9y ago
Perhaps https://www.snpedia.com/index.php/Rs762551 https://www.snpedia.com/index.php/Rs762551 There's an allele that leads to slower caffeine metabolism.
krrrh 9y ago
There is a SNP that determines whether you are a slow or fast metabolizer of caffeine. Depending on your genes coffee consumption has been linked to breast cancer and heart attack rates. Mostly I always had assumed I was a fast metabolizer and could get away with drinking loads of coffee, and realized that I was pinning my metabolism and getting poor quality sleep. I was better off titrating down and finding alternatives. https://www.snpedia.com/index.php/Rs762551 https://www.snpedia.com/index.php/Rs762551 Even though 23andme doesn't present this information anymore, as noted elsewhere on this thread, there are other websites such as promethease, genetic genie, found my fitness, SNPedia, etc, which you can upload your raw data to. Some focus on specific topics.

hannob 9y ago

> I really liked the old 23andme and was an early customer. I felt it did a good job of presenting scientific conjecture with notes on confidence and how to use the data. It gave me some encouragement to cut down on my caffeine consumption, and to exercise more to try to influence specific gene expression, and if I was a carrier for a serious genetic disease, I definitely would want access to that information. So I wonder what exactly in the 23andme data made you do these things. I don't know about your caffeine intake, but if you drink a lot then I could've told you to limit it without any genetic data. And I certainly could've told you to exercise more. Don't get me wrong: I'm not opposed to genetic testing. If people want to know their genes, ok. (I have done a 23andme test myself.) But realistically there isn't a lot of data that is useful for lifestyle changes. The idea is "If I have disease X risk in my genes I can do something against it". However "something" usually means "exercise, eat healthy, don't smoke, avoid injuries, do all the boring stuff everybody knows". You don't need a genetic test to tell you to go to the gym for your health.

jcrben 9y ago
The APOe4 (https://www.snpedia.com/index.php/APOE https://www.snpedia.com/index.php/APOE) gene's connection to Alzheimer's is one of the most well-studied. Roughly, if I recall correctly, one allele doubles your risk and both multiplies it even further. There's some evidence (probably weak, but still) that exercise limits that risk https://well.blogs.nytimes.com/2014/07/02/can-exercise-reduce-alzheimers-risk/?mcubz=3 https://well.blogs.nytimes.com/2014/07/02/can-exercise-reduc... Now, you could say "everyone should exercise", and maybe so. But any tangible evidence for the long-term benefits helps. Sure, there's general evidence of benefits, but in my (limited, dated) exposure to the literature, general exercise research is not necessarily compelling enough, especially given the difficulties in pulling out correlations between exercisers and other associated activities or traits. I find exercise boring, and I'm definitely looking to minimize exercise necessary to maximize its benefits. By the way, the genetic research on predisposition to side effects to drugs and such is also extremely compelling. It's sad that the medical world is still so far from even trying to do precision medicine.
krrrh 9y ago
Sure. Everyone knows they should exercise more, but what tips the balance in general, and what tips it on a day when you feel like crap and would rather surf Hacker News or go back to bed? Friends or family you exercise with, a loved one getting sick, a realization that your body doesn't work as it used to when you throw your back out, a gym opens up near your house? Which straw strengthens the camel's resolve? I wouldn't say that 23andme data was the only or even main factor, but for someone with a scientific bent, having read a few studies that showed an x% improvement in odds on avoiding a disease that I didn't want in populations with specific genes that I shared provides an extra bit of motivation on some days. I already exercised, but progress in health isn't binary, it's about frequency and repeated effort. Miss a significant percentage less workouts over a few years and the $99 on genetic testing easily pays for itself.

devy 9y ago

As the article pointed out, 23andMe's original business model of selling genetic testing kit to consumers didn't fly after FDA's mandate of banning them and they only gain 10 related gene testing approval since 2015. So they pivoted. As the article pointed out again, I still think they have some very interesting ways to generating more revenues like making drugs(a far stretch) or gene related disease analysis (fertility, breast cancer, etc.)

SEJeff 9y ago

Reminds me of this (very much NSFW) Chapelle skit: http://www.dailymotion.com/video/x3a3f0f http://www.dailymotion.com/video/x3a3f0f So many of the identitarians believe in eugenics, and then find out much of their current racial makeup comes from Africa: https://www.theatlantic.com/science/archive/2017/08/white-nationalists-dna-ancestry/537108/ https://www.theatlantic.com/science/archive/2017/08/white-na... I can't say I mind the schadenfreude. Bigots of all types should be educated.

Simon_says 9y ago
What does that even mean? Everybody's ancestors come from Africa.
- SEJeff 9y ago
  TL;DNR: It means white racists got really upset when they found out this fact that they were part African per their DNA. I laughed a lot when this made the news.

ams6110 9y ago

> if I was a carrier for a serious genetic disease, I definitely would want access to that information I'd much rather get that information from an MD who is at least bound by HIPPA regulations, than by a VC funded internet startup.

cm2187 9y ago
I completely agree with your distrust of a random startup, but I encourage you to exercise more caution about your MD. Not that he may have bad intentions but because most of them aren't really computer geeks and your personal information is quite likely to end up on a lost USB stick or out in the wild because of a bad shared password. I grew up in a family of doctors, and I heard things like them considering to sue google because a patient managed to find his medical record by googling his name. They are scientists, very educated people, but that doesn't mean they understand all technologies.
wonderous 9y ago
Is anyone able to providing a notable source on 23andme and their position on HIPAA regulations?
- dekhn 9y ago
  Do you have a specific question? Their position is that they follow the law where it applies to them.
- dragonwriter 9y ago
  23andMe isn't a HIPAA covered entity, and HIPAA regulations don't apply to then at all.
ptero 9y ago
I would much rather get it done anonymously through a VC funded startup than through an MD who is going to unambiguously tie it to my person, log it into an "approved" and "secure" storage and may be required to report it based on some currently unknown set of conditions ("do you have a predisposition to X? let us alert the right folks so they can check you out, just for your own benefit") I understand that with personal genetics you are unlikely to stay anonymous against a determined effort, but ATM I personally trust my government "trying to do good" less than I trust a random stranger who wants to make a predictable profit for his business. Just my 2c.

40acres 9y ago

> but I suspect that they are also bending to market demand for meaningless information like how 1 or 2 of your 64 great-great-great-great-grandparents happened to share some genetics with a bunch of people from the Asian steppes. What if some people really want to know this? My family is from the Caribbean, I will never be able to trace back my family history as deep as others because my ancestors were slaves, 23andme seems like a great service. Especially in a time with so much racial animosity in the US, maybe if people had a deeper look at where they come from they would have sympathy for others.

epmaybe 9y ago
That's surprisingly a thoughtful observation that I never would have considered since I don't have that problem. I feel kind of bad for disregarding my carribean girlfriend's results now.
- askafriend 9y ago
  We're talking about $200,000,000 here. There's no space in the room for sentimental value with a round like that. It's got to be brutally practical and be able to scale.
  - epmaybe 9y ago
    oh of course. If I understand correctly, the FDA has already approved them to provide genetic testing for 10 diseases. That is the big sell they are going for. They have plenty of data from the sentimental folks like me to play with.
kilroy123 9y ago
Yup, I agree. My mom was adopted so I can't trace anything on one side of my family. That's why I did the ancestry test. She met her biological parents before they died, but has little info about family history.

danielfoster 9y ago

I'm also disappointed. I can only recommend downloading your raw data and purchasing a report from Promethease. All the data is there, you just need another service to provide it.

smsm42 9y ago

Agree, I expected more from them by now. I mean, I know they had trouble with FDA and it's fun to learn how many Neanderthal genes I have, and there's a bunch of interesting info they delivered, but for 6+ years I am on their site, I expected more. Maybe more useful info beyond entertainment. E.g. they say I am predisposed to weigh above average. OK, why don't you give me some useful personalized advice? What they have is "eat well and exercise". Duh, I could read it anywhere. Maybe indeed it's a consequence of FDA meddling?