4 ms·

Out of interest, did you use the "TruGenome Predisposition Screen" offering? (Just looked up Illumina: I've been interested, but the 23&Me pricing/privacy conce

by ethbro 11y ago

Out of interest, did you use the "TruGenome Predisposition Screen" offering? (Just looked up Illumina: I've been interested, but the 23&Me pricing/privacy concerns squicked me out)

dekhn 11y ago
I did Understanding Your Genome http://www.illumina.com/company/events/understand-your-genome.html http://www.illumina.com/company/events/understand-your-genom... and I'm not 100% sure it's the same thing. Then I promptly uploaded my genome including the VCF files they used for risk screening, https://my.pgp-hms.org/profile/hu80855C https://my.pgp-hms.org/profile/hu80855C Anybody on the internet is free to analyze my genome.
- ethbro 11y ago
  Thanks for the link. They seem to offer a number of different products ranging from the $1,000 "Here's your genome" to $10k "Here's your genome and a detailed analysis of what we've found in it." What's been your experience with analysis? Something that can be picked up, or something that the professional insights you got were far more useful?
  - dekhn 11y ago
    My experience was interesting. The uyg clinical geneticists said I had zero genetic predisposition risk! That's a bit surprising it me. II also manually inspected the results and found that most of the risk variants they did see were just genic and I had only one of the snps out of several that are necessary for diseases such as types of cancer. Personally I found it less than useless, since I can't reasonably conclude I have no risks. I know enough genomics to conclude that beyond a few well understood cases, genomes have little medical predictive ability.
- devonEnlis 11y ago
  Here is your data in a format for Enlis Genome Personal: https://s3.amazonaws.com/enlisinstallfiles/customerFiles/PG0001217-BLD.genome.zip https://s3.amazonaws.com/enlisinstallfiles/customerFiles/PG0... https://www.enlis.com/download.html https://www.enlis.com/download.html

by ethbro 11y ago

Out of interest, did you use the "TruGenome Predisposition Screen" offering? (Just looked up Illumina: I've been interested, but the 23&Me pricing/privacy concerns squicked me out)

dekhn 11y ago

I did Understanding Your Genome http://www.illumina.com/company/events/understand-your-genome.html http://www.illumina.com/company/events/understand-your-genom... and I'm not 100% sure it's the same thing. Then I promptly uploaded my genome including the VCF files they used for risk screening, https://my.pgp-hms.org/profile/hu80855C https://my.pgp-hms.org/profile/hu80855C Anybody on the internet is free to analyze my genome.

ethbro 11y ago
Thanks for the link. They seem to offer a number of different products ranging from the $1,000 "Here's your genome" to $10k "Here's your genome and a detailed analysis of what we've found in it." What's been your experience with analysis? Something that can be picked up, or something that the professional insights you got were far more useful?
- dekhn 11y ago
  My experience was interesting. The uyg clinical geneticists said I had zero genetic predisposition risk! That's a bit surprising it me. II also manually inspected the results and found that most of the risk variants they did see were just genic and I had only one of the snps out of several that are necessary for diseases such as types of cancer. Personally I found it less than useless, since I can't reasonably conclude I have no risks. I know enough genomics to conclude that beyond a few well understood cases, genomes have little medical predictive ability.
devonEnlis 11y ago
Here is your data in a format for Enlis Genome Personal: https://s3.amazonaws.com/enlisinstallfiles/customerFiles/PG0001217-BLD.genome.zip https://s3.amazonaws.com/enlisinstallfiles/customerFiles/PG0... https://www.enlis.com/download.html https://www.enlis.com/download.html