The post is written almost as if there is no prior art on (germline) variant interpretation. In fact, it is an established niche field with multiple commercial vendors existing for years (and diagnostics for critically ill infants is the most well known use case - google Stephen Kingsmore or Rady's children hospital for one). I'd be surprised if the approach is really something novel at this point.
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.
Thanks for the reply. I have read your post but I haven't seen the preprint obviously and without knowing the details I remain skeptical.
> 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.
> I'd be surprised if the approach is really something novel at this point. <
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.
Interesting I didn't think about it this way but it's indeed a kind of IKEA effect assuming that P-creative is H-creativity (as defined by Boden) which is totally aligned with incentives of using models.
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 .
There can be plenty of prior art; however, AI can democratize that knowledge. There are many things it's helped me accomplish which are trivial to people who are far more knowledgeable than me.
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
Dad of 2 girls. 8 and 4. Not saying that life couldn’t have been equally great without them, but they are amazing. Rewired me in best way possible: to appreciate non-work life as much as anything else (perhaps more).
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.
Bayesian statistics to the rescue! You hear about the things that (can) go wrong a lot more, than the babies that are born without an issue. Basically, the opposite of survivorship bias? Anywho, millions of babies are born each day. Only 3-4% are born with a major birth defect or severe health issue (in the US) [0]. Now, a pregnant woman will undergo a routine screening, such as non-invasive prenatal test (NIPT) or a detailed anatomy ultrasound. With a positive test result, the probability of the baby being born healthy goes up to 99%+. Even with a negative test, the probability of the baby being healthy only drops to 80-50%, and then further testing will dial those probabilities in even more.
All this to say, all will be good – don't let the rare anecdotes get to you.
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.
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.
Same. And the insight of having used LLMs and it being so capable is a wtf moment for me in itself. And I am an AI engineer. It’s my job to have a good idea about how far these models can take us.
> And the insight of having used LLMs and it being so capable is a wtf moment for me in itself. And I am an AI engineer. It’s my job to have a good idea about how far these models can take us.
Are you saying that, as an 'AI engineer', you were unaware that LLMs could be used to interpret genetic variants? A thing that Google has been publishing on for well over 10 years?
This was not intended to be a technical post (obvious I hope).
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.
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.
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.
The point the OP is making is that given the choice parents will always choose a 100% 'perfect' child who will live a happy and long life free from things that make it difficult. Until relatively recently this hasn't actually been a choice though - as much as you'd like that, you've not been about to tell much about the long term future of a foetus so you got what Mother Nature blessed you with.
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')?
>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')?
Why/how a pregnancy started (consensually or not for example) or the motivation behind making that choice (just don't want a kid, some genetic diagnosis, etc) are irrelevant. If abortion is bad, it shouldn't be done at all. If it's not bad the reasons behind it should not matter
Always breaks my brain when people argue abortions in case of rape or incest are OK but otherwise a woman should be forced to carry a pregnancy to term, as if it matters to the potential child in the end. Either you're killing a person or not. I'm pro-choice, so it's my opinion that you're not, but the wishy-washy middle ground position is untenable to me.
Neither the OP nor you give a reason for why that's bad. I want my child to have all possible advantages in life. I'm sure most people want that. Why shouldn't we select for that? I'm interested in hearing an argument that doesn't go into anti-abortion territory.
Access to the tech is probably unequal if it's done privately, which leads to polarization of society where rich people get even more opportunities than poor people. If you want equality of opportunity and an approximately meritocratic society then building a system to prejudice outcomes before kids are even born isn't ideal (although money and education already does this to an extent, those can be countered a bit by government policy; literally growing humans with genetic advantages can't.)
There's a world of potential for choosing foetuses based on criteria that are ethically catastrophic (no girls, no people who are 'impure', etc). You can argue that it's still parental choice even if the parents are terrible people, but normalizing the tech could be a disaster if a future fascist government gets into power. Imagine if the choice was removed from the parents and taken over by the state.
The foetus doesn't get a choice. This is straying very close to anti-abortion rhetoric admittedly, but if you believe that people should get a say in the outcome of their life, then aborting pregnancies based on a possible outcome that might not manifest for decades is very questionable. A baby that gets terminated because current medicine can't stop an aggressive cancer is having the opportunity to wait for medicine to improve taken away from them. Even ignoring the abortion side of things, you can question whether it's right to make that decision on their behalf.
It's an anti-reproductive rights argument. You have to first accept the premise that a fetus is a person. Once you've done that, then the premise that a fetus is a person seems obvious.
This sort of thinking is incredibly dangerous to society at large, to say nothing of the danger to your own heart and soul.
Character, beauty, love, sacrifice. Every one of these involves pain and it makes life worth living. You can't avoid pain, so you might as well engage it in service of those you hold dear.
You should very much care about society wielding a sword like this, because historically we do not wield it well.
The sword being just deciding which embryos you will raise?
It's very easy to demand or promote sacrifices you expect other people to make. But I don't find that to be very empathetic.
I've already seen how society is when we shame and hand-wring about the personal decisions others make, and it's not one I want for my kids. At some point you need to be satisfied with your own decisions and then let other people make theirs.
There really is no point in leaning into avoidable pain. Pain does not "make you stronger". Pain is not "beauty". These are all bullshit tropes invented by abusers to keep people from questioning things.
I agree with you, unnecessary pain is not virtue. But pain does indeed make you stronger, or it can make you bitter, or depressed, or insane. How you choose to work through the inevitable pain you will face is what determines if it makes you stronger or not.
It's easy to hand wave the question of pain away, but much wiser men than you and I have arrived at very different conclusions than you suggest.
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.
It's not fair to people with Down Syndrome to romanticize and downplay their suffering. They all have to suffer with a strong disease their whole lives. Many are much to sick to part of "normal life" and we never see the really sick ones in public. We really only see the few one's that are doing exceptionally well. The rest are institutionalized. Many still die young. Many require invasive surgeries during early childhood.
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.
I'm sure she wishes her child had not been born with a debilitating disorder which usually requires a lifetime of care and comes with major health issues and suffering.
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...
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 think yours is not representative of the majority. Most places in the world can't afford dedicated carers, dedicated villages and housing, dedicated services, etc. [66-70% of Down's syndrome sufferers cannot live independently.](https://www.dscba.org/files/content/DS_functional_milestones...) Further, [11% cannot feed themselves, 26% cannot dress themselves, 29% cannot use the toilet themselves, and 52-54% cannot shower or bathe themselves.](https://www.mdpi.com/2076-3425/11/8/1012)
It gets worse. People with Down’s syndrome face all kinds of health issues. *Half* are born with heart defects. They have higher risk of hearing loss, vision problems, sleep apnoea, thyroid disease, coeliac disease, digestive problems, epilepsy, infections and leukaemia. They also have elevated risk of dementia later in life.
This is a hellish existence which no one would wish on their worst enemy. It's hell for the sufferers and it's hell for the family.
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 can’t say for 100% certain but I struggle to believe what you’re describing is more common than not.
This is absolutely common in New Zealand.
I think treating people with dignity, respect and part of the community is as important as state financial support.
Our government will also subsidise wages in certain industries for people with certain disabilities. So it’s common for people with intellectual disabilities to be working at supermarkets.
New Zealand, probably among the bottom half of countries based on population, so quite likely what you’re describing is not the majority experience. It’s probably rather rare worldwide.
Never questioned if it was common in New Zealand. I’m sure some countries have great support, and others do not. But in the aggregate, most people in the world simply do not have that level of support. So the conversation needs to be calibrated with that in mind.
Remember the original context here: someone talked about what they experienced and then you came in questioning it saying how wonderful the support you see is, then said what they experienced is not the majority experience, when the reality is quite the opposite actually. The support you are seeing is what is actually uncommon worldwide. New Zealand is exceptional here.
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.
The future is with gene editing to fix invalid genetic code. However, the owners of good genes probably won't give them away for free so it would be available only to the riches.
You know what? Good. If there is something good in it they can have it. Probably not a whole lot in my case, but still, if this enables people to have better lives, let them go at it!
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.
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.
Fable 5's safety measures flagged this message for cybersecurity or biology topics. They may flag safe, normal
content as well. These measures let us bring you Mythos-level capability in other areas sooner, and we're working
to refine them. Switched to Opus 4.8. Send feedback with /feedback or learn more
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
Opus-4.8/GPT-5.5 coupled with their respective harnesses will do a good job for more vanilla cases, I realized a custom harness and set of skills and MCP servers became essential as complexity increased (mostly hard SVs). I'll get an eval and more technical post out in a few weeks.
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’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.
My mom always said never to judge a person until you’ve walked a mile in their shoes. I could walk a whole marathon and still wouldn’t feel like I had perspective enough to judge people in this case. The story made me gasp at that point like I’d been struck.
(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)
To be fair, I think it's easy to believe this. It seems logical that if you knew for sure that someone you loved was dying, you'd be in a better position to accept it, but human experience is more than logic.
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.
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.
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.
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 .
None of us really know what to do!
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!
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.
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.
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/...
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.
Are you saying that, as an 'AI engineer', you were unaware that LLMs could be used to interpret genetic variants? A thing that Google has been publishing on for well over 10 years?
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.
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.
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')?
Why/how a pregnancy started (consensually or not for example) or the motivation behind making that choice (just don't want a kid, some genetic diagnosis, etc) are irrelevant. If abortion is bad, it shouldn't be done at all. If it's not bad the reasons behind it should not matter
Always breaks my brain when people argue abortions in case of rape or incest are OK but otherwise a woman should be forced to carry a pregnancy to term, as if it matters to the potential child in the end. Either you're killing a person or not. I'm pro-choice, so it's my opinion that you're not, but the wishy-washy middle ground position is untenable to me.
Access to the tech is probably unequal if it's done privately, which leads to polarization of society where rich people get even more opportunities than poor people. If you want equality of opportunity and an approximately meritocratic society then building a system to prejudice outcomes before kids are even born isn't ideal (although money and education already does this to an extent, those can be countered a bit by government policy; literally growing humans with genetic advantages can't.)
There's a world of potential for choosing foetuses based on criteria that are ethically catastrophic (no girls, no people who are 'impure', etc). You can argue that it's still parental choice even if the parents are terrible people, but normalizing the tech could be a disaster if a future fascist government gets into power. Imagine if the choice was removed from the parents and taken over by the state.
The foetus doesn't get a choice. This is straying very close to anti-abortion rhetoric admittedly, but if you believe that people should get a say in the outcome of their life, then aborting pregnancies based on a possible outcome that might not manifest for decades is very questionable. A baby that gets terminated because current medicine can't stop an aggressive cancer is having the opportunity to wait for medicine to improve taken away from them. Even ignoring the abortion side of things, you can question whether it's right to make that decision on their behalf.
Character, beauty, love, sacrifice. Every one of these involves pain and it makes life worth living. You can't avoid pain, so you might as well engage it in service of those you hold dear.
You should very much care about society wielding a sword like this, because historically we do not wield it well.
It's very easy to demand or promote sacrifices you expect other people to make. But I don't find that to be very empathetic.
I've already seen how society is when we shame and hand-wring about the personal decisions others make, and it's not one I want for my kids. At some point you need to be satisfied with your own decisions and then let other people make theirs.
I can be both satisfied with my decisions and still wish better for my neighbor; these are not mutually exclusive.
I am not saying, don't choose between embryos. I'm saying, be careful because it's a slippery slope and not a slide you want to ride.
It's easy to hand wave the question of pain away, but much wiser men than you and I have arrived at very different conclusions than you suggest.
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.
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.
Potential people aren't actual people though either.
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.
I'm not in favor of eugenics but you started from there and now you are sounding "pro-life" each time more as you write more messages in the thread.
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 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...
Answer I heard is hushed "Yes".
Your depiction of a person with downs is not representative of the majority.
It gets worse. People with Down’s syndrome face all kinds of health issues. *Half* are born with heart defects. They have higher risk of hearing loss, vision problems, sleep apnoea, thyroid disease, coeliac disease, digestive problems, epilepsy, infections and leukaemia. They also have elevated risk of dementia later in life.
This is a hellish existence which no one would wish on their worst enemy. It's hell for the sufferers and it's hell for the family.
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 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.
This is absolutely common in New Zealand.
I think treating people with dignity, respect and part of the community is as important as state financial support.
Our government will also subsidise wages in certain industries for people with certain disabilities. So it’s common for people with intellectual disabilities to be working at supermarkets.
Remember the original context here: someone talked about what they experienced and then you came in questioning it saying how wonderful the support you see is, then said what they experienced is not the majority experience, when the reality is quite the opposite actually. The support you are seeing is what is actually uncommon worldwide. New Zealand is exceptional here.
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.
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.
> I'm not
Why not?
Godspeed.
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
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.
oh boy
> 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.
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!
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.
Does it really outperform it, or you just got an answer faster? Because that's the trap of LLMs.
Its a sad story. I wish them well, I hope this is one of those scenarios that AI works exactly as desired.
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.
Internet reply: this is extremely disturbing