FDA Authorizes Ten 23andme Genetic Health Risk Reports • Hacker News Board

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#11

Post by Animats » Thu, Apr 06, 2017, 6:43 PM UTC

jjeaff wrote: post #5

CaliforniaKarl wrote: post #2

I wonder, does that mean anyone who's already submitted a sample to 23andme will get these reports, or is a new sample required?

If you have already submitted a sample, you will get a report. Since 23andme maps your whole genome, they simply compare the existing data as new finding are approved. OR if you are like some and signed up early before the FDA crackdown, you already got all this information and now they are just reappearing little by little.

Since 23andme maps your whole genome...

They don't go that far. A full genome sequencing costs around $2900 as of 2015. (Which is amazing, since the first one cost billions.) Maybe $1000 with the new Illumina HiSeq X Ten sequencing system. Data from a full genome sequencing is about 80GB. (Opportunity here for specialized compression - 98% of the genome for humans is the same.)

23andme is testing for about 100,000 known patterns using a much simpler approach for about a tenth of the price.

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#12

Post by blacksmith_tb » Thu, Apr 06, 2017, 6:45 PM UTC

phkahler wrote: post #6

Is there any way to just have your entire genome sequenced and get all the data in a software-friendly format? At that point there could/should be some open source software for analyzing it and finding common or well understood things like this. That way the software could be updated and people could re-run their analysis to look for newly discovered stuff. I think this would be an awesome amount of fun. I for one wo…

One option is to take raw data from a service like 23andme and use imputation[1] to generate the missing data. This isn't as accurate properly sequencing everything, but it will get you more data to play with for free...

1: https://en.wikipedia.org/wiki/Imputation_(genetics)

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#13

Post by crispyambulance » Thu, Apr 06, 2017, 6:50 PM UTC

jjeaff wrote: post #5

CaliforniaKarl wrote: post #2

I wonder, does that mean anyone who's already submitted a sample to 23andme will get these reports, or is a new sample required?

If you have already submitted a sample, you will get a report. Since 23andme maps your whole genome, they simply compare the existing data as new finding are approved. OR if you are like some and signed up early before the FDA crackdown, you already got all this information and now they are just reappearing little by little.

23andMe uses genotyping. IANAMB, but I think that means they run a series of assays each of which "examines" a small PART of the genome to look for something very specific.

As part of their process, however, they could extract the DNA and keep a sample frozen for later assays or even full genome sequencing but I don't know if they do that.

https://customercare.23andme.com/hc/en-us/articles/202904600...

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#14

Post by sushid » Thu, Apr 06, 2017, 6:51 PM UTC

phkahler wrote: post #6

Is there any way to just have your entire genome sequenced and get all the data in a software-friendly format? At that point there could/should be some open source software for analyzing it and finding common or well understood things like this. That way the software could be updated and people could re-run their analysis to look for newly discovered stuff. I think this would be an awesome amount of fun. I for one wo…

Have you already done a 23andMe analysis? If so, you can check out https://promethease.com/. It's exactly what you're looking for as they have constant updates that make it worth your while to rescan every year or so.

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#15

Post by BurningFrog » Thu, Apr 06, 2017, 6:51 PM UTC

CaliforniaKarl wrote: post #2

I wonder, does that mean anyone who's already submitted a sample to 23andme will get these reports, or is a new sample required?

Now they sell people only "ancestry" report for half the (now doubled) price. They probably don't get it, but I expect everyone on a "full" plan does. They already have the DNA info.

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#16

Post by Paul-ish » Thu, Apr 06, 2017, 7:02 PM UTC

> 23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription.

Will it be hard for competitors to get this authorization as well?

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#17

Post by greeneggs » Thu, Apr 06, 2017, 7:09 PM UTC

phkahler wrote: post #6

Is there any way to just have your entire genome sequenced and get all the data in a software-friendly format? At that point there could/should be some open source software for analyzing it and finding common or well understood things like this. That way the software could be updated and people could re-run their analysis to look for newly discovered stuff. I think this would be an awesome amount of fun. I for one wo…

Check out this series of articles from 2016 by Carl Zimmer [1]. He gets his genome sequenced by Illumina ($3100) and joins a medical study so that they'll give him the raw data. He gets the 70GB "BAM file" (Binary Alignment/Map) and passes it around to experts and they dig into it. Multiple weeks of computer time plus expert analysis---this is not a simple thing yet.

[1] https://www.statnews.com/feature/game-of-genomes/season-one/

[2] Supplementary materials to [1], https://zimmerome.gersteinlab.org/

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#18

Post by hartator » Thu, Apr 06, 2017, 7:16 PM UTC

phkahler wrote: post #6

Is there any way to just have your entire genome sequenced and get all the data in a software-friendly format? At that point there could/should be some open source software for analyzing it and finding common or well understood things like this. That way the software could be updated and people could re-run their analysis to look for newly discovered stuff. I think this would be an awesome amount of fun. I for one wo…

Very few companies even scan your entire DNA. 23andMe analyzes for example maybe less than 1 or 2%.

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#19

Post by soneca » Thu, Apr 06, 2017, 7:18 PM UTC

My opinion is that this test is useless at the least and dangerous at the most. It provides information that in almost the totality of the cases no one can correctly interpretate and transform in actionable health advice. Not scientists, not doctors, much less consumers.

But it is sold as a cutting edge scientific resource that will improve your life. It wont. Not even increasing the chance that you might avoid something somehow, that's the fallacy.

For our level of knowledge regarding causality in biology and genetics, I believe this test is as good as buying your astrological map.

Re: FDA Authorizes Ten 23andme Genetic Health Risk Reports

#20

Post by samirillian » Thu, Apr 06, 2017, 7:22 PM UTC

soneca wrote: post #19

My opinion is that this test is useless at the least and dangerous at the most. It provides information that in almost the totality of the cases no one can correctly interpretate and transform in actionable health advice. Not scientists, not doctors, much less consumers. But it is sold as a cutting edge scientific resource that will improve your life. It wont. Not even increasing the chance that you might avoid somet…

Reminds me of an EconTalk podcast on epidemiology. http://www.econtalk.org/archives/2015/11/robert_aronowit.htm...