It reads like a specific genome would lead to deterministic outcomes. It does not. Life is messy.
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.
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.
I would not bring a child into this world knowing they would die an early, painful death, at best leaving behind a family and children of their own without a parent themselves.
Potential people aren't actual people though either.
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.
In my country people with Down syndrome often live in housing together in suburban areas, with a social worker keeping an eye on things (independent living) or a carer available 24/7. They do sports, catch the bus, go to neighbourhood bbqs etc.
Your depiction of a person with downs is not representative of the majority.
I’m fairly certain your depiction is not representative of the majority experience throughout the world.
I can’t say for 100% certain but I struggle to believe what you’re describing is more common than not. That strikes me as a level of support provided by the state that most people with ds - and their family - do not enjoy throughout the world.
I am not an expert on Downs kids to know how majority looks like (are you?) Here in CZ, I knew of one preCovid cafe that employed adult Downs as waiters, and they absolutely needed supervision most of the time - cannot take the complicated Prague public transport alone. Maybe it is different in rural settings where there is just one bus line that never changes its course.
That said, prospective parents usually don't make their decisions to abort or not to abort on an expected median outcome, but some of the more pessimistic-but-realistic scenarios.
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".
She is the sort of very optimistic and energetic person that she does not mind most of the time. But she is a bit sad about her decision not to have any other children - her first kid was just too much to handle, and she wouldn't be able to take care of another one, even if healthy.
This is also a hidden cost of having a Down's baby - given how exhausting the care is, other kids either get less attention, or don't get born at all.
Also, the father skedaddled. Allegedly this happens quite often with unhealthy kids...
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.
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.
My technical take from this story was that human-run labs turned out to be less reliable than current AI.
This is the sort of performance/quality gap that is not obviously seen (who in the general population understands lab protocols in detail?) and could be massively improved with AI.
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.
It reads like a specific genome would lead to deterministic outcomes. It does not. Life is messy.
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.
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.
The toll it takes on parents and siblings, based on stories one reads, must be horrible.
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 would not bring a child into this world knowing they would die an early, painful death, at best leaving behind a family and children of their own without a parent themselves.
Potential people aren't actual people though either.
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.
This is why most people abort Down fetuses.
In my country people with Down syndrome often live in housing together in suburban areas, with a social worker keeping an eye on things (independent living) or a carer available 24/7. They do sports, catch the bus, go to neighbourhood bbqs etc.
Your depiction of a person with downs is not representative of the majority.
> In my country > Your depiction of a person with downs is not representative of the majority.
It may be for a different country, both experiences are valid to hear. In my country as far as I know it doesn't happen like yours.
I’m fairly certain your depiction is not representative of the majority experience throughout the world.
I can’t say for 100% certain but I struggle to believe what you’re describing is more common than not. That strikes me as a level of support provided by the state that most people with ds - and their family - do not enjoy throughout the world.
I am not an expert on Downs kids to know how majority looks like (are you?) Here in CZ, I knew of one preCovid cafe that employed adult Downs as waiters, and they absolutely needed supervision most of the time - cannot take the complicated Prague public transport alone. Maybe it is different in rural settings where there is just one bus line that never changes its course.
That said, prospective parents usually don't make their decisions to abort or not to abort on an expected median outcome, but some of the more pessimistic-but-realistic scenarios.
Does this make sense to you and her? Does she wish the kid would not have been born?
Such an inconsiderate and loaded question.
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".
What are you talking about? Down Syndrom LE is 60 years.
She is the sort of very optimistic and energetic person that she does not mind most of the time. But she is a bit sad about her decision not to have any other children - her first kid was just too much to handle, and she wouldn't be able to take care of another one, even if healthy.
This is also a hidden cost of having a Down's baby - given how exhausting the care is, other kids either get less attention, or don't get born at all.
Also, the father skedaddled. Allegedly this happens quite often with unhealthy kids...
I knew people who had to take care of their children for their entire life, since they never grew up mentally above 6-years old kid.
Answer I heard is hushed "Yes".
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
You'll be okay, mate
Aside from the sad life events, little information is shares about his "system", the thing HN is interested in.
Is this more than a harness built on top of a SOTA commercial LLM?
"the thing HN is interested in". Really though?
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.
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.
Bravo. I feel like there's a kind of growth that only arrives through pain, but I wish nobody had to receive it that way.
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.
This is a heartbreaking story and you can't imagine a more motivated founder.
Godspeed.
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.
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
The valley is extremely anti natal, it shows up in large scale demographic data very clearly, just check the census
> anti-natal communitarianism of SF
oh boy
Huh.
> 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.
llm("opus", genome)
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!
How will this lead to saving lives? The only possible consequence is abortion?
I think author meant he vibe coded some deterministic system. Maybe comparing the whole genome to a healthy one, and pointing out all diffs?
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.
moments like this really get me excited for AI and the future. im glad their new baby is healthy
You'll are extremely strong. Rooting for you'll!
> How could something I built so quickly outperform the top sequencing lab in the country?
Does it really outperform it, or you just got an answer faster? Because that's the trap of LLMs.
This is extremely disturbing.
Man tries to find way to improve situation that gave him needless distress surrounding the death of his newborn.
Internet reply: this is extremely disturbing
Well the „improvement“ here seems to be „it has some likelihood of genetic disorder let’s speed up death“
In what way?
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.
My technical take from this story was that human-run labs turned out to be less reliable than current AI.
This is the sort of performance/quality gap that is not obviously seen (who in the general population understands lab protocols in detail?) and could be massively improved with AI.
Really gotta love people who trauma-dump with no appropriate boundaries.
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.