3 ms·

While this is fantastic, aren't these genes identified by 23andme other low-cost DNA tests? I'm sure they do the BRCA1 and BRCA2 variants. Or are there many mo

While this is fantastic, aren't these genes identified by 23andme other low-cost DNA tests? I'm sure they do the BRCA1 and BRCA2 variants. Or are there many more variants in this test?

dekhn 3y ago
There's a big difference between what 23&Me includes in their technology and reports compared to solutions that are production grade medical tests. That said, 23&Me does tout their results as being medically relevant (https://www.23andme.com/brca/ https://www.23andme.com/brca/) (for a while, only Myriad could do any tests with brca1/2 because they had a patent on the literal gene sequence. it went to the supreme court and the court said no, you cannot patent human gene sequences)
deleted 3y ago
[deleted]
joysofpi 3y ago
they use different approaches. 23andme even has a short writeup on this: https://customercare.23andme.com/hc/en-us/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing https://customercare.23andme.com/hc/en-us/articles/202904600...
rflrob 3y ago
23andMe works by checking ~1M sites along the genome, and using known correlations with pathogenic variants. This Invitae test actually sequences the (coding portion plus a bit of) the genes involved, and can detect rare[0] mutations. Additionally, Invitae puts a ton of effort into determining whether any particular variant (of which you certainly have very many) is benign or pathogenic. Invitae has argued that (especially in certain under-represented populations), the 23andme approach is going to miss a lot of important variants [1]. _disclaimer: I’m a former Invitae employee and still holding the bag on what used to be a lot of stock . All opinions are my own. _ [0] Rare on the population scale. To a good approximation each person has only 0, 1, or 2 copies of any given polymorphism. [1] https://www.biospace.com/article/invitae-challenges-accuracy-of-23andme-s-cancer-gene-test/ https://www.biospace.com/article/invitae-challenges-accuracy...
- eps 3y ago
  Unrelated - the link in your profile now redirects to the scam/malware site.

While this is fantastic, aren't these genes identified by 23andme other low-cost DNA tests? I'm sure they do the BRCA1 and BRCA2 variants. Or are there many more variants in this test?

dekhn 3y ago

There's a big difference between what 23&Me includes in their technology and reports compared to solutions that are production grade medical tests. That said, 23&Me does tout their results as being medically relevant (https://www.23andme.com/brca/ https://www.23andme.com/brca/) (for a while, only Myriad could do any tests with brca1/2 because they had a patent on the literal gene sequence. it went to the supreme court and the court said no, you cannot patent human gene sequences)

deleted 3y ago

[deleted]

joysofpi 3y ago

they use different approaches. 23andme even has a short writeup on this: https://customercare.23andme.com/hc/en-us/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing https://customercare.23andme.com/hc/en-us/articles/202904600...

rflrob 3y ago

23andMe works by checking ~1M sites along the genome, and using known correlations with pathogenic variants. This Invitae test actually sequences the (coding portion plus a bit of) the genes involved, and can detect rare[0] mutations. Additionally, Invitae puts a ton of effort into determining whether any particular variant (of which you certainly have very many) is benign or pathogenic. Invitae has argued that (especially in certain under-represented populations), the 23andme approach is going to miss a lot of important variants [1]. _disclaimer: I’m a former Invitae employee and still holding the bag on what used to be a lot of stock . All opinions are my own. _ [0] Rare on the population scale. To a good approximation each person has only 0, 1, or 2 copies of any given polymorphism. [1] https://www.biospace.com/article/invitae-challenges-accuracy-of-23andme-s-cancer-gene-test/ https://www.biospace.com/article/invitae-challenges-accuracy...

eps 3y ago
Unrelated - the link in your profile now redirects to the scam/malware site.