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by hybrid_cluster 1704 days ago
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.

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.

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).

[0] https://www.nature.com/articles/s42003-020-01357-7

3 comments

This is precisely right, and for most people it's unlikely that their genome will be particularly useful any time soon.

For an individual, the questions are usually much more focused: for example if I have a baby with my partner, what are the chances that our child will have a recessive genetic disorder? This is answered right now with a carrier screen, where the only genes tested as the genes with variants that are known to cause disease. Much cheaper, much more highly curated, and put together and run entirely by experts in the field, rather than general technologists that are just running samples through a big machine.

Interpretation of the genome will take millions upon millions more individual genomes sequenced, but those individuals will only rarely, if ever, see personal benefit.

you just had the "hey, most of personalized medicine is actually psuedoscience" moment. Welcome to the club.

WHen I had my whole genome sequenced and analyzed by professionals, they were astonished because I didn't have a single risk factor in any known gene. They thought I'd live forever.

In most cases, your sequence info will be useless to you, but in some situations it can have a huge impact, such as predicting how you might respond to epidural anesthesia if you are a woman in labor.

Also, things like personalized immunity therapies for cancers and such are not far off. Unless they completely fail - which is always a possibility in therapeutic development.