Ancestors

Written by Dan Goodman on 2025-01-27 at 18:08

Thinking about big science, the human genome project looms large. I'm not an expert so: did this project fulfil its potential? From what I've seen, it seems the major achievement was development of sequencing tech and a focus on open data. Otherwise, people still talking in terms of potential value?

Apologies in advance if this comes across as ignorant, I really don't know much about genetics.

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Toot

Written by bert hubert 🇺🇦🇪🇺 on 2025-01-27 at 19:33

@neuralreckoning yes hello, I do know a bit. The human genome project can now be reproduced in a single week. We now have a depth and breadth of DNA knowledge of all kinds of human beings the original project never dreamed of. But to get to where we are today the HGP had to happen first. One of the main discoveries may have been that our genome is far more nuanced and complicated than people thought. There is no chance we would not have done the project. It was inevitable. 1/

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Descendants

Written by bert hubert 🇺🇦🇪🇺 on 2025-01-27 at 19:35

@neuralreckoning We might have hoped for more immediate breakthroughs, and people were surely expecting those. These days we are working on 'pangenomes' which incorporate all human DNA variation, and these may in fact hold more 'smoking gun' results than the "universal genome" created by the HGP. But because we would not have gotten where we are today without first doing "a" HGP, it has by definition been a success. /end

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Written by Dan Goodman on 2025-01-27 at 22:32

@bert_hubert right but that's the technology development I mentioned in the OP, right? We can only do pangenomes because of rapid sequencing tech?

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Written by Roger Moore on 2025-01-27 at 23:02

@neuralreckoning @bert_hubert

I think the previous poster's comment that we could do the whole project in a week now is misleading. Yes, we can sequence an individual genome that quickly now, but a lot of that is because we can compare the newly acquired data to the template provided by the original HGP. Everything we do with human genetics now builds on that project.

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Written by bert hubert 🇺🇦🇪🇺 on 2025-01-27 at 23:16

@VATVSLPR @neuralreckoning very good point, I should have taken that into account. The HGP was high pressure lots of money and prestige. With less money we’d also gotten there but maybe a decade later. And that would have set progress back a lot. So in that sense too it was successful.

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Written by Roger Moore on 2025-01-28 at 06:01

@bert_hubert @neuralreckoning

I think the immediate benefits of the HGP were oversold. People talked about it as the key that would unlock our understanding of human biology, but it was like the key that unlocks your front door. You have to get out of the house to explore the world, but the outside world is unimaginably bigger than you expect when you've spent your whole life living in one house.

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Written by bk on 2025-01-27 at 19:50

@bert_hubert @neuralreckoning

“more research is needed” (not a bad thing, but not the original goal, see also blue brain, chan zuckerberg, etc)

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Written by Dan Goodman on 2025-01-27 at 22:32

@bert_hubert thanks for the reply!

"One of the main discoveries may have been that our genome is far more nuanced and complicated than people thought."

But that sounds like a fairly high level point of view that we probably would have got to without doing it? Maybe that's an unfair response given that we don't know that we would have found that out without HGP but we do know that we got to it by doing the HGP.

"There is no chance we would not have done the project. It was inevitable."

Right, in the history I read this was one of the points made early on in discussions: it will happen, it's just that it will take 30+ years if we don't prioritise it. Does that make it a good thing though, necessarily? I don't know.

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Written by Roger Moore on 2025-01-28 at 06:32

@neuralreckoning @bert_hubert

This is less true than you'd think. The HGP was heavily criticized for sequencing all the "junk" DNA biologists didn't understand the function of. It turns out that "junk" has important functions we didn't know or even dream about. We might eventually have understood that stuff without the HGP, but it would have taken a lot longer. Sometimes you really learn more from one big, groundbreaking project than from a thousand little projects.

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