7 ms·

> For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid... I guess these are different reports,

> For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid... I guess these are different reports, but I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence". Those reports seem not-so-easy to understand based on the patients she sees. One problem is that they warn that your offspring are at high risk for some condition, when really "high risk" means 0.5% higher risk than the general population. The other is that they may say you are not a carrier for a certain condition, when they only test for one variant of it, where proper tests will test for multiple variants. They can both scare and soothe irresponsibly.

Kequc 10y ago
When I signed up the sample they took was spit in a vial. It never clicked for me that this was going to be the most scientifically accurate reading of my health in all the world. I took part because it could give me some scaring and soothing. But I assumed I'd go get a real test done if I was actually worried or interested about something specifically. The website repeats this sentiment over and over, I learned about all kinds of interesting genetic stuff. I'm sure that's what it's for. I shouldn't be surprised that many people take what it says as gospel.
- eli 10y ago
  The "real" genetic test I took in doctor's office to screen for a condition worked by spitting in a bottle too. It's a reasonable way to collect DNA.
- nether 10y ago
  > When I signed up the sample they took was spit in a vial. Yes, and? I don't see the significance of the testing medium here. DNA sequencing from hair or blood or saliva will yield identical results.
  - aarongolliver 10y ago
    They're saying the testing medium itself made the test appear less scientific/accurate (to them) than it actually is. Perhaps if it had been a hair sample it would have appeared more scientific (again, to them).
    - Kequc 10y ago
      Yes that's right.
  - SEJeff 9y ago
    Yup and in both sources, it will be multiplied first via polymerase chain reaction, and then analyzed / sequenced.
- amelius 10y ago
  > I learned about all kinds of interesting genetic stuff And there's much more to be found. The service of 23andme only records a limited set of SNPs. Further there is "multiomics" (see [1]), where not just the genome is sequenced but a complete biological fingerprint of metabolites is taken at different timepoints. This can e.g. give insight in onset of a disease even before any symptoms present themselves. I wonder when this will become available as a (mainstream) service, but I guess soon. [1] https://en.wikipedia.org/wiki/Multiomics https://en.wikipedia.org/wiki/Multiomics
searine 10y ago
>Those reports seem not-so-easy to understand based on the patients she sees. Sounds like they are keeping her in business.
jdavis703 10y ago
Have you ever worked in tech support? Seemingly simple technical information can be very mystifying to people without good critical thinking abilities.
peteretep 10y ago
Yah. I've got a 50% chance of having Huntington's. When my parent was first diagnosed with it, me + all siblings were immediately going to get screened. Half of us actually booked to get the test done. But we later cancelled our screenings, and we're all now rather we didn't know. As I understand, genetic counselling in the case of HD is people telling you over and over again not to get tested. One of the constraints on fertility treatment if you're at risk is that you can't have any procedure that removes the potential baby's right to choose whether or not to be screened. But in summary: I've decided (having thought I definitely wanted to know) not to get tested. I'm glad there wasn't a button on 23andMe I could just click to find out. It's a complicated decision, should require some thought, and has life-changing consequences. While I'm strongly pro-choice, I also don't think 7-11 should be selling abortifacient drugs -- just because technology can make some decisions easy to execute on, doesn't mean they should be as easy as clicking a button.
- problems 10y ago
  I'd much rather that kind of thing be available as clicking a button personally. Getting information that could help you make big decisions is very useful.
  - nommm-nommm 10y ago
    What sort of big decisions does knowing you have Huntington's disease help you make? It's a debilitating disease with no treatment or any way to prevent it.
    - problems 10y ago
      That... seems pretty obvious to me, does it not to you? I don't know, I for one would knock back plans I might save for retirement to much earlier in my life.
    - majormajor 10y ago
      Estate planning implications, savings implications, family goals... Hopefully at the very least even without testing to go from 50% to sure knowledge, that 50% number is enough to get people to create wills/trusts. Save your survivors a lot of trouble with just a little up-front time and cost.
booleandilemma 10y ago
A little knowledge is a dangerous thing.
psyc 10y ago
We have to be vigilant, lest our enemy, the good, get the upper hand over the perfect.
oceanghost 10y ago
I have very weird metabolic problems... the US medical model --- if you can't diagnose it in two or three visits-- it doesn't exist. I actually have the 23andme kit right here-- I plan to get the genome data to submit to some other services to see if there's ANYTHING I can learn about what's going on with my body. My doctors have basically been watching me die.
- rubatuga 10y ago
  Best of luck. If you really didn't have a diagnosis after 3 visits, you probably should see another doctor. I'm just curious, what you mean by metabolic problems?
  - oceanghost 10y ago
    I don't want to go into my medical history here... but I'm sensitive to several common proteins and compounds. Chronically low on B*, D and Calcium. Doctors think I'm nuts. It runs in the family-- my mother and grandmother have the same problem. B vitamins seem to modulate one of the problems and not another. :)
WhitneyLand 10y ago
Can we stop with the unsubstantiated heresay? What condition, what markers, what risk calculation is used? I recently tried to research these companies to help a friend, and theres a huge amount of innuendo out there along with a lack of detailed and up to date information. Even the companies seem to be in the dark. One example is I asked FTDNA to explain what the advantages might be to their autosomal only testing vs AncestryDNA's autosomal testing. A "senior" person there essentially said, we have no idea how they conduct autosomal tests so we can't help you. Off the top of my head every company I can think of goes to great lengths to know the competition, in part to be able to explain their advantages to customers. But not so for some of these DNA companies. To be fair, AncestryDNA's web info was so marketing messaged I didn't even bother to ask them the question.
- selimthegrim 10y ago
  Have you got any opinion's on FTDNA's new myOrigins? I think it might make some things harder to interpret for people without very good genealogical records.
splintercell 10y ago
> I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence". Do you really think a product can be built (for a reasonable price) which ensures that your genetic counselor does not get stupid questions from the consumers of the product? That's like saying <My friend who works in tech support describes cheap computers as "bane of their existence">.
- exclusiv 10y ago
  I'm not sure how I feel on this because I see both sides. If you're a doctor, you have to spend a lot of time addressing questions that are often based on other situations/conditions or aren't accurate because they were sourced on the web. At the same time, doctors were used to not getting questioned much and being able to do whatever they want for the most part. Last time I went in due to sickness they tried to do an x-ray which I declined. Many health care providers play the billing game and that's what they know. Now they have to listen to the patient and have more dialogue. Sometimes they are questioned. It's a shift. I think it's a good thing that people are asking more questions and doing research on their own. In real estate - automated valuations like Zillow provides are the "bane of their existence". Although many times it helps them because people want to seek an agent to sell because they looked up the Zestimate. If you're a professional - handling questions and concerns shouldn't be an issue.

Kequc 10y ago

When I signed up the sample they took was spit in a vial. It never clicked for me that this was going to be the most scientifically accurate reading of my health in all the world. I took part because it could give me some scaring and soothing. But I assumed I'd go get a real test done if I was actually worried or interested about something specifically. The website repeats this sentiment over and over, I learned about all kinds of interesting genetic stuff. I'm sure that's what it's for. I shouldn't be surprised that many people take what it says as gospel.

eli 10y ago
The "real" genetic test I took in doctor's office to screen for a condition worked by spitting in a bottle too. It's a reasonable way to collect DNA.
nether 10y ago
> When I signed up the sample they took was spit in a vial. Yes, and? I don't see the significance of the testing medium here. DNA sequencing from hair or blood or saliva will yield identical results.
- aarongolliver 10y ago
  They're saying the testing medium itself made the test appear less scientific/accurate (to them) than it actually is. Perhaps if it had been a hair sample it would have appeared more scientific (again, to them).
  - Kequc 10y ago
    Yes that's right.
- SEJeff 9y ago
  Yup and in both sources, it will be multiplied first via polymerase chain reaction, and then analyzed / sequenced.
amelius 10y ago
> I learned about all kinds of interesting genetic stuff And there's much more to be found. The service of 23andme only records a limited set of SNPs. Further there is "multiomics" (see [1]), where not just the genome is sequenced but a complete biological fingerprint of metabolites is taken at different timepoints. This can e.g. give insight in onset of a disease even before any symptoms present themselves. I wonder when this will become available as a (mainstream) service, but I guess soon. [1] https://en.wikipedia.org/wiki/Multiomics https://en.wikipedia.org/wiki/Multiomics

searine 10y ago

>Those reports seem not-so-easy to understand based on the patients she sees. Sounds like they are keeping her in business.

jdavis703 10y ago

Have you ever worked in tech support? Seemingly simple technical information can be very mystifying to people without good critical thinking abilities.

peteretep 10y ago

Yah. I've got a 50% chance of having Huntington's. When my parent was first diagnosed with it, me + all siblings were immediately going to get screened. Half of us actually booked to get the test done. But we later cancelled our screenings, and we're all now rather we didn't know. As I understand, genetic counselling in the case of HD is people telling you over and over again not to get tested. One of the constraints on fertility treatment if you're at risk is that you can't have any procedure that removes the potential baby's right to choose whether or not to be screened. But in summary: I've decided (having thought I definitely wanted to know) not to get tested. I'm glad there wasn't a button on 23andMe I could just click to find out. It's a complicated decision, should require some thought, and has life-changing consequences. While I'm strongly pro-choice, I also don't think 7-11 should be selling abortifacient drugs -- just because technology can make some decisions easy to execute on, doesn't mean they should be as easy as clicking a button.

problems 10y ago
I'd much rather that kind of thing be available as clicking a button personally. Getting information that could help you make big decisions is very useful.
- nommm-nommm 10y ago
  What sort of big decisions does knowing you have Huntington's disease help you make? It's a debilitating disease with no treatment or any way to prevent it.
  - problems 10y ago
    That... seems pretty obvious to me, does it not to you? I don't know, I for one would knock back plans I might save for retirement to much earlier in my life.
  - majormajor 10y ago
    Estate planning implications, savings implications, family goals... Hopefully at the very least even without testing to go from 50% to sure knowledge, that 50% number is enough to get people to create wills/trusts. Save your survivors a lot of trouble with just a little up-front time and cost.

booleandilemma 10y ago

A little knowledge is a dangerous thing.

psyc 10y ago

We have to be vigilant, lest our enemy, the good, get the upper hand over the perfect.

oceanghost 10y ago

I have very weird metabolic problems... the US medical model --- if you can't diagnose it in two or three visits-- it doesn't exist. I actually have the 23andme kit right here-- I plan to get the genome data to submit to some other services to see if there's ANYTHING I can learn about what's going on with my body. My doctors have basically been watching me die.

rubatuga 10y ago
Best of luck. If you really didn't have a diagnosis after 3 visits, you probably should see another doctor. I'm just curious, what you mean by metabolic problems?
- oceanghost 10y ago
  I don't want to go into my medical history here... but I'm sensitive to several common proteins and compounds. Chronically low on B*, D and Calcium. Doctors think I'm nuts. It runs in the family-- my mother and grandmother have the same problem. B vitamins seem to modulate one of the problems and not another. :)

WhitneyLand 10y ago

Can we stop with the unsubstantiated heresay? What condition, what markers, what risk calculation is used? I recently tried to research these companies to help a friend, and theres a huge amount of innuendo out there along with a lack of detailed and up to date information. Even the companies seem to be in the dark. One example is I asked FTDNA to explain what the advantages might be to their autosomal only testing vs AncestryDNA's autosomal testing. A "senior" person there essentially said, we have no idea how they conduct autosomal tests so we can't help you. Off the top of my head every company I can think of goes to great lengths to know the competition, in part to be able to explain their advantages to customers. But not so for some of these DNA companies. To be fair, AncestryDNA's web info was so marketing messaged I didn't even bother to ask them the question.

selimthegrim 10y ago
Have you got any opinion's on FTDNA's new myOrigins? I think it might make some things harder to interpret for people without very good genealogical records.

splintercell 10y ago

> I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence". Do you really think a product can be built (for a reasonable price) which ensures that your genetic counselor does not get stupid questions from the consumers of the product? That's like saying <My friend who works in tech support describes cheap computers as "bane of their existence">.

exclusiv 10y ago
I'm not sure how I feel on this because I see both sides. If you're a doctor, you have to spend a lot of time addressing questions that are often based on other situations/conditions or aren't accurate because they were sourced on the web. At the same time, doctors were used to not getting questioned much and being able to do whatever they want for the most part. Last time I went in due to sickness they tried to do an x-ray which I declined. Many health care providers play the billing game and that's what they know. Now they have to listen to the patient and have more dialogue. Sometimes they are questioned. It's a shift. I think it's a good thing that people are asking more questions and doing research on their own. In real estate - automated valuations like Zillow provides are the "bane of their existence". Although many times it helps them because people want to seek an agent to sell because they looked up the Zestimate. If you're a professional - handling questions and concerns shouldn't be an issue.