To give brief backround, I have genotyping from 23andme. I am interested in health applicable data. I’ve used my current data to generate reports from SNP variations.
Now, if I am mainly interested in health, would whole genome sequencing give me any more actionable data? I have very basic understanding of biology, so I resort to tools such as Promethease. I am willing (and plan to) learn, but I want to know if getting 100GB of my genomic data would mostly be a waste (I’m looking at https://www.fullgenomes.com/. ~1500 USD for 30x whole genome sequencing).
I count on your expertise and knowledge.
My (weak) opinion is that unless you’re chasing some rare symptoms that might be genetically determined, you won’t get much extra information from the full genome scan vs. the carefully selected SNPs tested by 23andme. In the cases of a few people I know, even the results from 23andme did not match reality (e.g. reaction to modafinil, or likelihood of type 1 diabetes).
If you are interested in genomics and want to learn more, getting your genome sequenced isn’t a bad way to go about it.
If you don’t have any specific issues, and are hoping for convenient “actionable” insights, you’re probably going to be disappointed.
A whole genome scan can add more insight. 23andme tests about 10% of known SNPs (~300k SNPs out of 3m). If you have a novel SNP or important insertion/deletions, that would not be detected by 23andme either. Enlis is the best software for analyzing SNPs, they have a blog post here about cleaning up 23andme data and imputing nearby alleles.
When I see an article about some gene that does something, I like to look it up in my own 23andme SNP data. Quite often I don’t find the SNP referenced in the article because 23andme didn’t cover that SNP, so I’d definitely like to have my whole genome to work with.
That being said, I agree with Dan and Eric. Many of the SNPs I do know about don’t predict my actual phenotype (e.g. I have several SNPs that are predicted to make me albino or partially albino … but I’m not!). Given the low accuracy of the information about SNPs, it is really hard to have any kind of actionable insight from genomics data.
We are really just at the beginning of the genomics age, and we’re really waiting on more research correlating detailed phenotypes (e.g. metabolomic profiling) with genomic data. They say genes don’t control your destiny – we just don’t know. Does epigenetics control destiny? Transcriptome interactomics?
We thought the human genome would be our blueprint, but at this point it feels more like the genome is a raw binary file, and we don’t have the informatics to convert that into the jpeg for the blueprint.
Yes it’ s true. Genomic era it’ s just at the beginning but science is making huge steps forward.
The price of WGS and WES has dropped out. I did my WGS at 600€ on www.dantelabs.com by benefiting of a promotion that they do once a while. I got my raw data for free and an easy and understandable report that explain your risk for common traits.
I am about to get my whole genome sequenced, to try to explore more the idea of genetic determinants behind my sleepwalking.
A far reach and it will take a lot of time to identify anything of interest (if ever) but I believe this is the start of a new era, for many conditions.