New vs. Old – a comparison of 23andMe’s health reports and the raw data
1–10 of 12 posts
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#2What's going on here? 23andme are not allowed to report on the full data but Enlis is? Or is Enlis flying under the radar until they get squelched by the FDA?
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#3What's going on here? 23andme are not allowed to report on the full data but Enlis is? Or is Enlis flying under the radar until they get squelched by the FDA?
The latter seems more accurate. Although 23andme can't provide you with a health analysis, they still provide you with their entire panel in raw data, which you can upload to other services such as Enlis and get effectively the same health report.
If Enlis grows, they may get a similar letter to 23andme, because they would be offering a medical analysis not approved by the FDA.
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#4What's going on here? 23andme are not allowed to report on the full data but Enlis is? Or is Enlis flying under the radar until they get squelched by the FDA?
The latter seems more accurate. Although 23andme can't provide you with a health analysis, they still provide you with their entire panel in raw data, which you can upload to other services such as Enlis and get effectively the same health report. If Enlis grows, they may get a similar letter to 23andme, because they would be offering a medical analysis not approved by the FDA.
Sounds like a reason/opportunity to locate outside the U.S.
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#5What's going on here? 23andme are not allowed to report on the full data but Enlis is? Or is Enlis flying under the radar until they get squelched by the FDA?
The information that we report is all publicly available from places like Pubmed ( http://www.ncbi.nlm.nih.gov/pubmed/ ) and ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/ )
It's conceivable that that one could look at each of the 600,000 lines in 23andMe's raw data and find these research reports individually.
We simplify that process and make the connections to research reports for you. Then, wrap it up in a nice package where you can compare your family member's data, get information on genes, generate PDF reports, etc.
Unless the FDA wants to shut down public access to scientific knowledge, then we don't expect to hear from the FDA. Others have been operating in this space for several years.
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#6What's going on here? 23andme are not allowed to report on the full data but Enlis is? Or is Enlis flying under the radar until they get squelched by the FDA?
The information that we report is all publicly available from places like Pubmed ( http://www.ncbi.nlm.nih.gov/pubmed/ ) and ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/ ) It's conceivable that that one could look at each of the 600,000 lines in 23andMe's raw data and find these research reports individually. We simplify that process and make the connections to research reports for you. Then, wrap it up in a nice p…
Seems like a good product, but my confidence is not inspired by your introductory video having a synthesized voice over. Seems like a dumb thing to potentially lose customers over.
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#7Is there any way to have sequencing done anonymously? I would love to get the data, but I'm not crazy about multiple corporations and/or governments having a copy of my DNA forever, to do with as they like (privacy policies and such notwithstanding).
Edit: Ah, it appears that anonymously handing over your DNA may not even be possible: http://www.technologyreview.com/news/509901/study-highlights...
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#8Is there any way to have sequencing done anonymously? I would love to get the data, but I'm not crazy about multiple corporations and/or governments having a copy of my DNA forever, to do with as they like (privacy policies and such notwithstanding). Edit: Ah, it appears that anonymously handing over your DNA may not even be possible: http://www.technologyreview.com/news/509901/study-highlights...
Your edit touches on this but a SNP panel, much less an exom or God help you a genome is hardly anonymous
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#9> "We are supposed to believe that the technology can tell us accurately if a person has 1 copy of a variant, but it cannot determine if there are 2 copies? What does 23andMe report if there are 2 variants? Nothing?"
Actually, this sounds eminently plausible. As I understand it, a DNA microarray consists of a bunch of probes that each transmit a signal when they bind to a specific strand of digested DNA. A probe is either bound or not, and since you're applying a mixture obtained from multiple cells, there's many copies of each DNA sequence present in either case. There's no way you could establish whether or not two copies of the same gene were present in an individual cell.
I could be wrong (I'm a bioinformatician, not a biologist), and 23andme could be doing something interesting which reveals this data- in either case, I'd be interested to hear. But this makes fairly bad advertising copy- everyone else with the same cursory understanding of this technology is going to have the same thought, and think that you don't even have said cursory understanding if you don't explain your reasoning better [1].
[1] For that matter, you come off as wildly unscientific simply because you make this sort of conjecture without citing sources. There is a resource out there, somewhere, that would confirm or deny what you're saying, and your ability to make a credible scientific statement rests on you finding it.
Re: New vs. Old – a comparison of 23andMe’s health reports and the raw data
#10> "We are supposed to believe that the technology can tell us accurately if a person has 1 copy of a variant, but it cannot determine if there are 2 copies? What does 23andMe report if there are 2 variants? Nothing?" Actually, this sounds eminently plausible . As I understand it, a DNA microarray consists of a bunch of probes that each transmit a signal when they bind to a specific strand of digested DNA. A probe is…
23andMe's genotyping chip is based on the Illumina Infinium beadarray technology. ( http://www.illumina.com/technology/beadarray-technology/infi... )
There is a nice animation of the technology on Illumina's website. It's a single base extension assay where you have hybridization of a probe, then add a labeled nucleotide where the SNP is that you are studying. For a A/T SNP, if you basepair and add an 'A' you get a green signal, if you add a 'T' you get a red signal. If you end up with a mix of green/red, you have a heterozygous variant.
Illumina has a tech note on the call rate and error rate here: http://www.illumina.com/Documents/products/technotes/technot... At a minor allele frequency of 0.5% their minor allele homozygous error rate was 0.1%.
The nice thing about this technology is that the more data you have, the better your calls get, and 23andMe has real world data on over 1 million customers. (Illumina tech note used data from 2,000 genotyped samples) I think 23andMe has enough data to know which of the SNPs on their genotyping chip are accurate, but they don't exactly open up their data for public inspection.
If you are a 23andMe customer you can see the improvements to the raw data they have made over the years here: ( https://www.23andme.com/you/download/revisions/ ) If you can't see it, it says things like: "July 28th, 2014. Analysis of our data has allowed us to improve the interpretation of over 10,000 SNPs genome-wide on the V4 chip." When they get more data, they are improving their calls.
Finally, the FDA document about 23andMe's approved Bloom Syndrome carrier test says that "all homozygous variant genotype samples receive a 'no-call' result, since the calling software was designed not to detect homozygous variant genotypes." It sounds to me like they designed the software to ignore and throw out homozygous data. http://www.accessdata.fda.gov/cdrh_docs/reviews/DEN140044.pd...