4 ms·

Here's an idea: a site for people with unusual genes, good or bad. They can describe why they're unusual, and in some cases get asked for more details or even f

by nealabq 10y ago

Here's an idea: a site for people with unusual genes, good or bad. They can describe why they're unusual, and in some cases get asked for more details or even for a DNA sample. All voluntary of course. Forums for people with similar conditions, questions about long term affects or attempted remedies. Feed the data to an AI. Maybe monetize with subscriptions to medical researchers.

ZeroFries 10y ago
I feel it would be filled with hypochondriacs and special snowflakes
- anigbrowl 10y ago
  Who cares? It would still advance DNA research by identifying the prevalence of false positives. Incidentally I'm really sick of comments like yours dismissing other people on the sole basis that they're especially interesting to themselves. For all you know that might be indicative of some subtle mental illness. If you can't comment without denigrating other people then maybe you're the one with the problem.
  - ZeroFries 10y ago
    Your comment seems more denigrating than mine, ironically. How would bad data advance DNA research? Im saying hypochondriacs are not what you'd want when trying to collect accurate medical data. How is this denigrating to those who are interested in themselves?
    - aptwebapps 10y ago
      Wouldn't the principle of charity assume that the creators of such a site put some effort in to filtering the data (at either input or output time or both) to make it manageable? If someone posts an idea here is it necessary for them to add a bunch of caveats so we know they've already thought of the obvious things and have answers?
  - notheguyouthink 10y ago
    Fwiw, i know what you mean about the typical "HN Comments", but i do think you're being a bit harsh on him/her. I think their comment/concern is valid, and a meaningful point of discussion. It's not overly critical, and there is no tone. Likewise, yours feels (to me) to have far more of a tone, seemingly directed at (but not soley caused by) ZeroFries. Anyway, i can tell you're frustrated at "HN Comments".. so, i just ask that you try to be constructive in these types of replies, or you only contribute to the problem.
    - nitrogen 10y ago
      "Hypochondriac" and "special snowflake" are both heavily judgmental and dismissive terms, at least in my experience. Assuming the comment was expressing genuine concern with no malice, less judgmental language would have been useful.
      - notheguyouthink 10y ago
        Fair point
  - andrewmcwatters 10y ago
    Could you not comment on HN like this, please?
therein 10y ago
I had this idea a few years ago.
- mixedCase 10y ago
  Have you implemented it?
  - therein 10y ago
    I started looking into it but I was busy with something else at the time. I had talked to the mods of /r/nootropics and also the owners of a few domestic suppliers/storefronts and they were definitely very interested. I mean, it is clear that if we are as a community serious about self-experimentation, we have to find a way to consolidate the results of our individual n=1 studies.
- franciscop 10y ago
  Ideas are worth nothing; the value is in the implementation
ndonnellan 10y ago
https://epatientfinder.com/ https://epatientfinder.com/ and others connect patients with trials. I don't work there, but I know someone who just left our (EHR) company to join. They're not on the genetic scale (that I know of), but I think it's a great idea to allow opt-in for patients that are curious about potential trials.
toomuchtodo 10y ago
You just described 23andme.com.
- gwern 10y ago
  No. 23andme.com only provides SNP information on the most common few hundred thousand variants (mine has ~600k called), typically those which are present in >=1% of the population. With these sorts of mutations with serious fatal effects, the mutations are, for obvious reasons, present in <<1% of the population. So 23andMe is very uninformative about rare mutations like in OP. (23andMe does provide an exome sequencing service, which might cover OP's mutation, but it would still miss many other problems, and due to its high price of ~$900, has never been popular - at that price point, you might as well get a whole-genome.)

by nealabq 10y ago

ZeroFries 10y ago

I feel it would be filled with hypochondriacs and special snowflakes

anigbrowl 10y ago
Who cares? It would still advance DNA research by identifying the prevalence of false positives. Incidentally I'm really sick of comments like yours dismissing other people on the sole basis that they're especially interesting to themselves. For all you know that might be indicative of some subtle mental illness. If you can't comment without denigrating other people then maybe you're the one with the problem.
- ZeroFries 10y ago
  Your comment seems more denigrating than mine, ironically. How would bad data advance DNA research? Im saying hypochondriacs are not what you'd want when trying to collect accurate medical data. How is this denigrating to those who are interested in themselves?
  - aptwebapps 10y ago
    Wouldn't the principle of charity assume that the creators of such a site put some effort in to filtering the data (at either input or output time or both) to make it manageable? If someone posts an idea here is it necessary for them to add a bunch of caveats so we know they've already thought of the obvious things and have answers?
- notheguyouthink 10y ago
  Fwiw, i know what you mean about the typical "HN Comments", but i do think you're being a bit harsh on him/her. I think their comment/concern is valid, and a meaningful point of discussion. It's not overly critical, and there is no tone. Likewise, yours feels (to me) to have far more of a tone, seemingly directed at (but not soley caused by) ZeroFries. Anyway, i can tell you're frustrated at "HN Comments".. so, i just ask that you try to be constructive in these types of replies, or you only contribute to the problem.
  - nitrogen 10y ago
    "Hypochondriac" and "special snowflake" are both heavily judgmental and dismissive terms, at least in my experience. Assuming the comment was expressing genuine concern with no malice, less judgmental language would have been useful.
    - notheguyouthink 10y ago
      Fair point
- andrewmcwatters 10y ago
  Could you not comment on HN like this, please?

therein 10y ago

I had this idea a few years ago.

mixedCase 10y ago
Have you implemented it?
- therein 10y ago
  I started looking into it but I was busy with something else at the time. I had talked to the mods of /r/nootropics and also the owners of a few domestic suppliers/storefronts and they were definitely very interested. I mean, it is clear that if we are as a community serious about self-experimentation, we have to find a way to consolidate the results of our individual n=1 studies.
franciscop 10y ago
Ideas are worth nothing; the value is in the implementation

ndonnellan 10y ago

https://epatientfinder.com/ https://epatientfinder.com/ and others connect patients with trials. I don't work there, but I know someone who just left our (EHR) company to join. They're not on the genetic scale (that I know of), but I think it's a great idea to allow opt-in for patients that are curious about potential trials.

toomuchtodo 10y ago

You just described 23andme.com.

gwern 10y ago
No. 23andme.com only provides SNP information on the most common few hundred thousand variants (mine has ~600k called), typically those which are present in >=1% of the population. With these sorts of mutations with serious fatal effects, the mutations are, for obvious reasons, present in <<1% of the population. So 23andMe is very uninformative about rare mutations like in OP. (23andMe does provide an exome sequencing service, which might cover OP's mutation, but it would still miss many other problems, and due to its high price of ~$900, has never been popular - at that price point, you might as well get a whole-genome.)