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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

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.

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.