My first son will be born in 2 months and I must say, between stories like this and others that I learned in antenatal classes - I have never been more terrified in my life
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.
People born with Down syndrome deserve all the respect and dignity any other person does.
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.
With pre-implantation genetic testing, a sufficiently large number of embryos, and a sufficiently small number of children desired, it's just a ranking question. A pair of parents with 6 embryos, and 2-3 children desired will likely just try their most viable embryos first. One can argue that they should try the embryos that carry known conditions before they try the ones that don't, but I can't imagine under what ethical structure that is desirable.
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.
Most cannot live alone and their parents have to take care about a huge, powerful 100 kg baby that needs constant attention until its death.
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.
Screening an embryo that could not survive outside the womb and deciding to stop the pregnancy based on the results is not the same as "wishing the kid wasn't born".
This is such a sad story. What would it feel like to have a child? I'll probably never experience it in my lifetime. I've never been through that, but when my sibling died of cancer, I couldn't do anything for nearly a year. I imagine it's a similar feeling. I wish you all the best in everything you do from now on.
That story is heart breaking. I really feel for you and your family. I quite literally cannot imagine having to make that decision regardless of how inevitable it was, and how much pain you felt.
No matter how short his life, or how much his suffering, Owen did get to experience being held by parents who loved him.
Huh, this is fascinating. My wife and I did IVF with WGS in order to find a much less catastrophic shared genetic condition[0]. We have the FASTQs for my parents, and brother, and my wife and me, and our daughter (and our other embryos) and I've run it through the standard Opus[1] (since 4.5) and none have contradicted our genetic counselors or IVF doctors. This is an interesting, and devastating, condition far more severe than anything we risked. More power to the author for having coped in a productive way. I hope that more such science will lead to healthier babies, parents more comfortable with children since they know what they can avoid or mitigate, and happier families.
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.
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2: Within the last year 2 children have been killed in our neighbourhood by drivers, and parents in the US already compensate by cutting child freedom significantly
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
I’m skeptical that general purpose LLMs are a good fit for a very specialized medical analysis task. Something trained specifically for the task would be the path I’d explore.
Does it say anywhere that he’s using general purpose models for the analysis? Fine tuning open weight models is generally available for pretty minimal cost, I’d say his reference to vibe coding is how he is building the software not how the software functions.
> I’m skeptical that general purpose LLMs are a good fit for a very specialized medical analysis task
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!
General models are very cheap to get started with though. So even if they are less than ideal, you can use them to get a company going and then make something more efficient.
lots of different ways, the loss of a child the potential loss of two children, the powerlessness and despair the parents would have been feeling... turning to AI which might have a positive outcome but many of us are not very trusting of the tool.
Its a sad story. I wish them well, I hope this is one of those scenarios that AI works exactly as desired.
I wouldn't call this trauma dumping. It's relevant to the story. As a non parent, explaining his and his partner's experience allowed me to better appreciate the benefits of his startup.
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.
Most Down Syndrome people have happy lives, some can even leave 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.
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.
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.
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.
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.
Screening an embryo that could not survive outside the womb and deciding to stop the pregnancy based on the results is not the same as "wishing the kid wasn't born".
No matter how short his life, or how much his suffering, Owen did get to experience being held by parents who loved him.
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.
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:
2: Within the last year 2 children have been killed in our neighbourhood by drivers, and parents in the US already compensate by cutting child freedom significantly3: 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
Godspeed.
> 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.
oh boy
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!
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.