This is absolutely world changing. I've known that this was coming and was only a matter of time, it did get here sooner than I expected. I have hypermobile Ehelers Danlos Syndrome (hEDS) from a TNXB mutation. I was incorrectly told by doctors for decades that I was perfectly healthy and my issues were psychosomatic. It wasn't until I did a careful large scale behavioral analysis that I was able to identify similar people and from there the root cause. A $500 (30x) DNA test confirmed it. hEDS is massively under diagnosed, the vast majority never get a diagnosis.<p>I strongly suspect that most mental problems are physical in nature and most physical problems are DNA related. And even when they're not DNA related, treatment ideas could be gleaned from 'natures large scale experiment'. The number of issues that can be identified from a $100 (1x) test and then subsequently treated is mind boggling. For me, that cost is less than a single doctors visit. This side steps the medical establishment which is slow and in many ways archaic. This will lead to a massive leap forward in medicine.<p>In other news; I'm also of the opinion that IQ is largely determined by DNA, nature as opposed to nurture, and once that is properly figured out I'm sure designer babies are next. I don't think that is a door that can be kept closed. There is already a black market for it. I'll be watching from the sidelines, I think this is going to get interesting.
Does anyone remember the days when some geneticists were saying that 98% of DNA is "junk" DNA? When I heard it I knew it couldn't be true but it's probably going to take another 50 years to figure out how much really does get used.<p>I can't help but suspect that a lot of the genome is a part of the boot sequence that helps you go from one cell up to all the differentiated organs and tissues and systems.
Twitter thread from one of the corresponding authors: <a href="https://twitter.com/gabecasis/status/1450289834543697925" rel="nofollow">https://twitter.com/gabecasis/status/1450289834543697925</a>
Not too related, but I got my genome sequenced for fun the other day (< $500 for 30x whole genome), and after a few scrolls through the results (200+ interpretations of my genome in the context of studies like the one linked here), I'm already losing interest.<p>Ok, so I have a high genetic predisposition for thinness, walking fast [0], and bipolar disorder? So now what? I never noticed except for the thinness. They even scared me with 'you're genetically in the 99th percentile for critical covid disease progression,' but reading the results of the paper in question, it turned out the heritability of the effect under study was only 6%. Thanks for letting me know.<p>These studies are interesting from a general genomics perspective, but not so much yet from a personal one (with the exception of a few traits that are determined by one or a few well-understood genetic variants. Hopefully this space will expand over the next few decades).<p>[0] <a href="https://www.nature.com/articles/s42003-020-01357-7" rel="nofollow">https://www.nature.com/articles/s42003-020-01357-7</a>
Wow, what a time to be alive! For those who are not into bio, this type of information is invaluable for untangling the molecular mechanisms of disease and can provide important clues about where we should intervene with a small molecule or antibody drug to disrupt disease processes.<p>To give a coding analogy, you can think of this as trying to debug a program written in a language we can’t read. We have no idea what lines are doing what, but there are many different versions / forks of this program floating around. By looking at all the diffs and comparing the outputs, we can start to figure out what some of the code is doing, and which lines we might want to comment out to correct certain types of bugs.
I think DNA data should be considered public data. 99% of our DNA is shared, and the DNA degrees of separation between you and me is ~3. Practically we are all already identifiable from the small sample that exists in genealogy companies and it s been repeatedly done by law enforcement. I think it's bonkers that , after 10 years, companies like 23andme are not allowed to give us health reports because ... what reasons really? Especially in Europe it makes no sense to have such draconian laws about something that's important to everyone's health. Full sequencing costs like $200 today and i m sure millions would be willing to give their data to a public database that would take the field meaningfully forward. Instead what we get is we allow these companies to sell data which should be public domain. The US has its problems with their broken social security - here's a suggestion: fix it. Europe could use its public healthcare advantage to get ahead in genomic research while simultaneously improving the quality of its health systems. Instead we are stuck with outdated privacy laws (yet somehow making tax information public is OK). China could be using their own advantage and databases to get ahead in genomics while we 're still playing hide and seek.
From abstract: “… We discover several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as novel risk-lowering associations for hypertension (SLC9A3R2), diabetes (MAP3K15, FAM234A) and asthma (SLC27A3)…“
I think I missed the novel technique they applied.<p>Surely others try to match particular genes to diseases. Surely that’s one of the pillars of the entire field.
A reminder that these sorts of genome-wide studies are not particularly reliable due to the problem of multiple comparisons: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270946/" rel="nofollow">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270946/</a>