Most Down Syndrome people have happy lives, some can even live alone and have an independent daily live.
Life expectancy is up to 60 years.
Yet in Iceland „Democratization“ of genetic diagnosis lead to basically 0% Down Syndrome kids (births).
Where does this stop? What with someone of a genetic indication of aggressive cancer- life expectancy 55? Abort?
The same (detectable) genetic mutation leads to vastly different lives. This is correlation. Nobody sees the many undiagnosed broken genomes with no visible symptoms that would be aborted with more such businesses like this.
I have two kids. If I could have chosen whether or not they would be born with Down syndrome I would choose would “without” every single time. If either of them were born with it I would love them the same but I would never choose it, if I had the choice to make.
Increasingly though, parents can check, and they are doing, and that means they're getting to pick whether or not to carry a not-quite-perfect baby to term. Many are choosing to terminate and try again. Right now it's for obvious things like Downs, but the scope for what parents choose to terminate can, and probably will, escalate to other detectable problems.
The question is where that ends. Terminating due to a susceptibility to aggressive cancer? Maybe. Due to lower intelligence? Perhaps. Lower physical strength? Probability of autism? Unsymmetrical facial features (e.g. 'ugliness')?
My friend from elementary school has had a Down kid at 19. She takes it well, but managing a grown-up man five times as strong as her (she is petite) when he decides to do something like "take his bicycle and ride on a busy highway" is exhausting.
This is why most people abort Down fetuses.
Your depiction of a person with downs is not representative of the majority.
As for trisomy-21, if we wish to increase the rates in the future we can stop performing pre-implantation testing and the MSAFP and nuchal translucency and so on. After all, even if we abort all embryos that carry the markers today, new such embryos will be formed in the future since it comes from non-disjunction so selection pressure once removed will allow it to return.
Potential people aren't actual people though either.
You destroy the life of the family and greatly make the lives of healthy children harder.
Why would you sacrifice your healthy children for one who has no real future?
Complete inversion of common sense.
I.e. not a net-productive member of society? Fun fact, machines are taking everything over, so you and any "healthy children" may be in that same camp very soon. IMO, anyone capable of living happily while being outcompeted by machines is well-adapted for the future.
I'm not; average Down's Syndrome folks seem to be.
Oh, the horror.
Listen, you have no idea what these people went through and judging them for not wanting to go through the same thing is shitty.
None of us really know what to do!
I was a “such is life” type of person when experiencing tragedy, and fairly ho-hum during joyous moments. With kids, something changed, or “rewired”. I tear up at Bluey episodes and lose sleep due to irrational fears of an early death and not witnessing moments in my kids’ lives.
Having and raising kids is a trip.
In case you find it useful, I wrote what I learned in my first year of fatherhood (the little guy is now 17 months): https://alejo.ch/3hj
As you can see, I never found anything as scary as the possibility, however remote, of my baby being unhealthy. So, yeah, best of luck!
Just a joke. It will be marvelous. Savoir the first years. It's a lot of work, bad sleeping nights, but you'll have fond memories for life.
I mean, make no mistake, it is terrifying, but you'll make it through eventually and it will be okay.
Also not sure if this was covered in class, but in case it wasn't: You need to rotate the baby. The baby needs rotation so that the head doesn't grow misshapen. Rotate the baby.
All this to say, all will be good – don't let the rare anecdotes get to you.
[0] https://www.cdc.gov/birth-defects/data-research/facts-stats/...
It is definitely the case that the parents of babies and kids with life-threatening conditions are often one the most motivated people you see on Earth and what they accomplish sometimes is truly incredible. My heart goes out to them including the OP - I can only imagine how hard it must be....
While I am truly grateful for him and the team for their contributions to neonatal genetics (and hosting me in San Diego for a few days to show me how I could help), Rady was actually the unnamed lab that failed to diagnosis my son.
And this happens all the time. The WGS NICU diagnostic rate is only ~30%, depending on who you ask. Just because people have been working at this for a decade and products exists, doesn't mean it's a solved problem.
I don't know if you read until the end of my post, but I did run a small experiment in collaboration with an academic geneticist and outperformed the first-line clinical labs across the board. My approach, which is essentially Claude Code for genetics, is fundamentally different and novel than how this work is done today and seems to perform much better in early experiments. Time will tell is this generalizes to all clinical work.
I'm planning on publishing evals and benchmarks in the next few weeks, but out-of-the-box systems actually don't do very well for a variety of reasons.
> The WGS NICU diagnostic rate is only ~30%, depending on who you ask.
Agreed. It does not automatically mean, however, that it can be significantly improved with better variant interpetation or better analysis of the same wgs data in general sense.
> I'm planning on publishing evals and benchmarks in the next few weeks, but out-of-the-box systems actually don't do very well for a variety of reasons.
Happy to see it. I wish you all the luck and will be the first one praising your solution if I see convincing results.
this is a very common reaction to people doing things with llms and i think the effects of it can be somewhat insidious. you constantly see people out there vibing their way to something that has already been discovered somewhere else, but they didn't know that and in many cases wouldn't have known how to find that thing even if they did.
the framing of "the llm tricked you into thinking you discovered something" while technically true in many cases, very strangely casts the positive outcome of a person being linked in a very engaged manner to something they wouldn't otherwise know or found out into something to be looked down on, and sort of just discourages people from trying stuff themselves that wouldn't be possible for them without something like an agent. it's okay if someone else already found the thing. for areas like science and research, it's actually a good thing if something you did repeated the work of someone else. it validates the original piece of work, and it tells you the things you were trying were on the right track to begin with.
They have to be useful, otherwise nobody comes back, and used, not just a starting point that can be bypassed after doing it a couple of time. Instead of pointing out to what exists, basically what a search engine does, it "helps" the user by building. It also gives an amazing sense of agency and power, you "do" get something that seems to come out of nothing, conveniently removing provenance and thus make the user feel quite good about the process.
This is especially poignant to me given this anecdote from a friend I shared just days ago https://news.ycombinator.com/item?id=48457842 showcasing how we wrote a Wacom driver, on his own, without being a developer, thanks to Claude, and how he even potentially helped others by sharing back what he "built" only for someone to suggest an already existing project https://news.ycombinator.com/item?id=48459366 .
nostos/limbus, genoox, engenome, congenica are a few companies/products that I have heard about and have been around for years (the last one was defunct from what I heard last however).
Disclaimer: not affiliated to any of these.
If they can save more lives without harming other lives I would gladly take it during the analysis. Even saving 1% more lives is an amazing achievement!
Is this more than a harness built on top of a SOTA commercial LLM?
We're talking about a deep human experience here. I don't know about HN as a whole but I personally come out of this much more touched about the human side of the story and how someone's life events can tremendously change their paths and goals than the LLM itself.
I'm planning on getting one out in the next few weeks characterizing the system and how it performed on real clinical use-cases vs. alternatives and existing tools.
The TL;DR is that Gamow Labs is a harness and interface company on top of SOTA LLMs as you suggested, but my harness and interface outperforms the existing thing. While this approach would have earned me the "wrapper company" label last year, I hope the success of OpenEvidence, Harvey, Perplexity, and so on has opened minds with respect to the value here.
It was only working through clinical cases that I realized how much more I needed beyond dropping raw reads into Codex.
Internet reply: this is extremely disturbing
Its a sad story. I wish them well, I hope this is one of those scenarios that AI works exactly as desired.
As an aside, I have not found SF to be anti-natal but that's because of the community we've formed. Of our friends in SF, almost all are trying for children or have them. Our shared Slack group is full of happy news. Inevitably, many of us must move elsewhere in order to allow them some freedom[2] and good education[3]. So there's a bit of a dead-sea effect, true, but even within that sea there are pockets of community one can find.
0: https://wiki.roshangeorge.dev/w/IVF but also see https://viz.roshangeorge.dev/roshan-genvue/ to see an old set of results and download my VCF here https://my.pgp-hms.org/profile/hu81A8CC and put it through a modern (but not too modern LLM) to get some fun results if you want a starter data set to peek through. Opus can get you far.
1: Fable as expected yields:
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3: Since school system design is determined by both parents and non-parents, it is a vehicle of expression of non-education-related action by the latter, and in a city where they dominate the former, the effects are typical
If you are open to chatting about your experience, I'd love to hear from you. I spend a lot of time learning from and supporting other rare disease families these days.
And the anti-natal thing was kind-of joking not joking. I do know lots of people with kids there now, but when my wife first got pregnant, we were alone.
I found this to be the most interesting theory in the post because I'm not convinced it's at all true.
(And then there was the whole “antinatalist” bit and I am trying really hard to keep this dude’s shoes tied so I will stop there)
Speaking from my own first-hand experience, saying "goodbye" is never easy regardless of the circumstances. Every goodbye has its own texture and none is "easier" than another. They're just...different.
> It was clear that something about my approach was interesting.
But no approach. Not even a hint.
I do hope it pans out. I do understand it must be a trade secret in order for you to have a business, but I'm still a little underwhelmed.
https://www.janestreet.com/tech-talks/algorithm-for-precisio...
It’s a fascinating story similar to this one, but using “old” AI. The dude spent years learning genetics, and built a program called “medikanren” with Will Byrd. It’s p much a huge graph database of facts they extracted from academic papers, and query using logic programming. It’s a great story
I'm in the process of getting my first batch of long reads, but I am skeptical that this is the "just" what's needed. There is little doubt that long read > short read, but I think that computational techniques for both need to be improved significantly.
There is already some clinical evidence to support my hypothesis. The first clinical long read trial at Kansas City Mercy showed a 10% bump in diagnostic rate, which is great but not fully solving the problem: https://news.childrensmercy.org/unlocking-answers-faster-chi...
No matter how short his life, or how much his suffering, Owen did get to experience being held by parents who loved him.
Godspeed.
Peering through the NICU window & wondering if my child would survive was one of the most traumatizing moments of my life. Rooting for your work.
oh boy
That said, it’s notoriously difficult to call these types of causal microdeletions, outside of a few known ones. Any insights you make on those efforts would advance the field quite a bit.
Does it really outperform it, or you just got an answer faster? Because that's the trap of LLMs.