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.
> 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 wouldn't say anything is automatic or taken for granted, but it is actually relatively common for more thorough reanalysis to uncover something that the first pass missed. I hinted at this in the post, but the reason that this doesn't happen today is human bandwidth.
A core part of my thesis is that that this highly specialized human bandwidth can be scaled with AI.
It may work. It may not work. But I would feel bad if I didn't give it a try.
> 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.
I am not sure what specifically you mean by "AI" here but it's a bit naive (no offence) to think the field is so dumb that it haven't been looking at "AI" for a few years already. See https://www.biorxiv.org/content/10.1101/2023.10.02.560464v1 for instance
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).
I thought that the author had used AI to vibe code the software to help him look through the genomic data
"Like all of the others, this WGS came back non-diagnostic. Unlike the others, my heartbreak had passed the point of hopelessness and I was ready to do something. I contacted every lab we had worked with and requested access to all genomics files. I was going to figure this out myself.
"After a few days, my initial results shocked me. The prototype I built not only accomplished my original goal of confirming that Warren seemed healthy (spoiler: everything is fine), but it found the genetic mutation that took our first son Owen’s life. How could something I built so quickly outperform the top sequencing lab in the country?"
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).
Becoming another individual’s whole world changes your own, for better or worse.
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.
Right there with you on unexpected tear-stream moments, fears, but also all those happy moments you can't anticipate.
In past year I've watched my older (8) start competing on a cheerleading team. Immense tear-streaming joy watching her light up in front of a crowd and build confidence. I was immediately overcome the first time and always feel a strong swell of emotion.
The real difficulty is deciding what caring means. Some people decide caring means getting onto your adult child's job interview call because you think they need help. For others, caring means giving them a safety net but letting them learn and possibly fail on their own.
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.
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
Thanks for sharing (I am OP). Lots of really interesting computational problems in genetics. The original speech recognition models, HMMs, diffused to genetics ahead of many other fields with which we associate machine learning. Look forward to watching this tech talk.
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.
Can you say a little more about how current genomic techniques rely on human interpretation? Is that mostly where you use an LLM (to act human-like), or is your approach different than that?
Current genomic techniques involve humans using a lot of different software (search, ranking models, visualizations, alignment algorithms, etc.) and synthesizing the results manually into a diagnosis.
Your assumption is correct about my technique. I cloned (and expanded) this workflow into an LLM harness, so the LLM is basically orchestrating a bunch of tools that normally humans would use (and writing the conclusions and doing all the standard LLM stuff).
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.
ACD is devastating and insidious. Every baby admitted to the NICU, even for minor breathing issues, should get a rapid genome.
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.
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
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.
Certainly. If there’s something I can do for you that will assist I’m happy to do so. Email on profile and I don’t mind chatting in person in SF should you so desire.
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!
If a couple gives birth to a baby with a debilitating condition and dies after 6 weeks, that’s an additional baby death. If instead of having that baby, a couple gives birth to a healthy baby, it will likely survive into adulthood, meaning there’s one less baby death.
It sounds like you just take issue with abortion. That’s more of a you problem than a problem with quantifying baby deaths.
This is an anecdotal example, isn’t it? What do people today abort for, after genetic diagnosis? Down-Syndrome and other markers with highly random and non-fatal outcomes.
in some cases early and correct diagnosis saves lives. may not be applicable for the OPs situation, but imagine running full diagnosis is so cheap at some point in the future that every kid when they born get that diagnosis cheaply and automatically. And doctors do not need to "guess" based on symptoms.
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.
I would be curious to know if the WGS was done using short read or long read. There is a lot of hope that long read is "just" what is needed to catch these type of cases nowadays (not sure about this particular one).
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...
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.
Well the reasons for a choice do matter, don’t they? They matter in today’s law in many places.
Is aborting because of an LLM „likelihood“ of some genetic issue (that might lead or not lead to an short or unhappy life) the same as aborting after rape for you?
Biggest problem in fact is that people take genetic markers as deterministic and assume the worst outcome. Lots of false abortions happen. That does not happen with rape.
I am pro-choice, but really I'm hoping there is enough advancement in medicine to "fix" genetic issues and the sorts of things people would terminate after a positive test result.
If that is actually possible someday, legitimately, I am switching to pro-life.
With only rape/incest or mother's certain death as reasons for termination.
I realise this is a weird and nuanced take, but I was adopted and it was back when they forced the mother to keep the kid for 6 months before they'd place tbe kid. Puritanical nonsense?
Make it so accidental pregnancy is 0.0001% (a thousand times less likely than perfect condom and pill/IUD use;) and the above "can fix", and what reason would there be to terminate?
If you feel that abortion is killing an otherwise viable human being, then you should be pro-life now. Especially if you're anti-death penalty and feel that no one should die for any reason. On the other hand if there are any reasons why abortion would be ok, why aren't all reasons ok? Either it's wrong or it's not, and if you are on the pro-life side why should a child be punished because of how it was conceived? On the other hand, if you believe that a non-viable fetus is not a live human being, the decision to stop before it gets to that point is independent of any reasoning
Having conditions on abortion are completely nonsensical and irrational. I don't get it
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.
Is there such choice? Today parents are not doing that choice but choosing to stop the life of the kid with Down-Syndrome. So I’m not sure they are receiving „all the respect“ today - are they?
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.
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".
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.
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.
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.
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.
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!
It's not good. They can sell it to insurance companies as well. Who might decide not to provide you with health insurance based on your genetic profile.
Yes, I agree that is not good. But that is a thing the people need to fight politically for to not be allowed. My main gripe is that OP's post sounded like screw the people who's lives that would improve because I wouldn't get paid for it.
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.
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.
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....
It's funny you mention Dr. Kingsmore and Rady.
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.
> 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 wouldn't say anything is automatic or taken for granted, but it is actually relatively common for more thorough reanalysis to uncover something that the first pass missed. I hinted at this in the post, but the reason that this doesn't happen today is human bandwidth.
A core part of my thesis is that that this highly specialized human bandwidth can be scaled with AI.
It may work. It may not work. But I would feel bad if I didn't give it a try.
> Happy to see it. I wish you all the luck and will be the first one praising your solution if I see convincing results.
Appreciate that! Hopefully, they will come.
> 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 .
Related professional ramblings few days ago https://news.ycombinator.com/item?id=48353270 (TL;DR: more code isn't better, doesn't matter who or what wrote it)
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.
I am not sure what specifically you mean by "AI" here but it's a bit naive (no offence) to think the field is so dumb that it haven't been looking at "AI" for a few years already. See https://www.biorxiv.org/content/10.1101/2023.10.02.560464v1 for instance
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.
I thought that the author had used AI to vibe code the software to help him look through the genomic data
"Like all of the others, this WGS came back non-diagnostic. Unlike the others, my heartbreak had passed the point of hopelessness and I was ready to do something. I contacted every lab we had worked with and requested access to all genomics files. I was going to figure this out myself.
"After a few days, my initial results shocked me. The prototype I built not only accomplished my original goal of confirming that Warren seemed healthy (spoiler: everything is fine), but it found the genetic mutation that took our first son Owen’s life. How could something I built so quickly outperform the top sequencing lab in the country?"
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).
None of us really know what to do!
Becoming another individual’s whole world changes your own, for better or worse.
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.
Right there with you on unexpected tear-stream moments, fears, but also all those happy moments you can't anticipate.
In past year I've watched my older (8) start competing on a cheerleading team. Immense tear-streaming joy watching her light up in front of a crowd and build confidence. I was immediately overcome the first time and always feel a strong swell of emotion.
You start worrying when they are in the womb... and never really stop worrying til you die.
I had no idea I would turn into a helicopter. it's kind of crazy how it rewires you.
Being an helicopter has a specific (and negative) meaning; caring and worrying for your kids seems just how many humans are wired.
The real difficulty is deciding what caring means. Some people decide caring means getting onto your adult child's job interview call because you think they need help. For others, caring means giving them a safety net but letting them learn and possibly fail on their own.
I might be opinionated but the former clearly feels/is a problematic and unhealthy behavior. The latter is much more reasonable.
I ~never liked kids. I debated having them, then kind of settled on it (was planned). I expected to be be present but... aloof? Like my dad was.
Instead, I have buddies. I wouldn't call it unhealthy, just much more invested than I expected to be.
You'll be okay, mate
Good luck!
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!
my youngest is 8, and it still physically hurt to read the intro.
Wait till he becomes a teenager to see what's really terrifying
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.
It's going to be okay.
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.
I'm in a similar boat too! I found verbalizing it with anyone who will listen helps the anxiety.
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.
[0] https://www.cdc.gov/birth-defects/data-research/facts-stats/...
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.
Not sure if OP is actually in here, but anybody interested in this topic should absolutely watch this talk by Matt Might:
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
Thanks for sharing (I am OP). Lots of really interesting computational problems in genetics. The original speech recognition models, HMMs, diffused to genetics ahead of many other fields with which we associate machine learning. Look forward to watching this tech talk.
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.
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?
Your comment seems too snarky. I am not having this discussion with you.
That’s quite fine, I hope it’s an opportunity for you to introspect
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.
Can you say a little more about how current genomic techniques rely on human interpretation? Is that mostly where you use an LLM (to act human-like), or is your approach different than that?
Current genomic techniques involve humans using a lot of different software (search, ranking models, visualizations, alignment algorithms, etc.) and synthesizing the results manually into a diagnosis.
Your assumption is correct about my technique. I cloned (and expanded) this workflow into an LLM harness, so the LLM is basically orchestrating a bunch of tools that normally humans would use (and writing the conclusions and doing all the standard LLM stuff).
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.
This is a heartbreaking story and you can't imagine a more motivated founder.
Godspeed.
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.
ACD is devastating and insidious. Every baby admitted to the NICU, even for minor breathing issues, should get a rapid genome.
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.
> anti-natal communitarianism of SF
oh boy
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
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.
Certainly. If there’s something I can do for you that will assist I’m happy to do so. Email on profile and I don’t mind chatting in person in SF should you so desire.
The valley is extremely anti natal, it shows up in large scale demographic data very clearly, just check the census
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?
If a couple gives birth to a baby with a debilitating condition and dies after 6 weeks, that’s an additional baby death. If instead of having that baby, a couple gives birth to a healthy baby, it will likely survive into adulthood, meaning there’s one less baby death.
It sounds like you just take issue with abortion. That’s more of a you problem than a problem with quantifying baby deaths.
This is an anecdotal example, isn’t it? What do people today abort for, after genetic diagnosis? Down-Syndrome and other markers with highly random and non-fatal outcomes.
I have no problem with abortion itself.
in some cases early and correct diagnosis saves lives. may not be applicable for the OPs situation, but imagine running full diagnosis is so cheap at some point in the future that every kid when they born get that diagnosis cheaply and automatically. And doctors do not need to "guess" based on symptoms.
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.
I worked with Dan (OP) - he is one insightful, motivated and driven individual. I've no doubt he'll have a meaningful impact in this space.
I would be curious to know if the WGS was done using short read or long read. There is a lot of hope that long read is "just" what is needed to catch these type of cases nowadays (not sure about this particular one).
This was short read.
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...
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.
Well the reasons for a choice do matter, don’t they? They matter in today’s law in many places.
Is aborting because of an LLM „likelihood“ of some genetic issue (that might lead or not lead to an short or unhappy life) the same as aborting after rape for you?
Biggest problem in fact is that people take genetic markers as deterministic and assume the worst outcome. Lots of false abortions happen. That does not happen with rape.
I am pro-choice, but really I'm hoping there is enough advancement in medicine to "fix" genetic issues and the sorts of things people would terminate after a positive test result.
If that is actually possible someday, legitimately, I am switching to pro-life.
With only rape/incest or mother's certain death as reasons for termination.
I realise this is a weird and nuanced take, but I was adopted and it was back when they forced the mother to keep the kid for 6 months before they'd place tbe kid. Puritanical nonsense?
Make it so accidental pregnancy is 0.0001% (a thousand times less likely than perfect condom and pill/IUD use;) and the above "can fix", and what reason would there be to terminate?
I am anti-death penalty too.
If you feel that abortion is killing an otherwise viable human being, then you should be pro-life now. Especially if you're anti-death penalty and feel that no one should die for any reason. On the other hand if there are any reasons why abortion would be ok, why aren't all reasons ok? Either it's wrong or it's not, and if you are on the pro-life side why should a child be punished because of how it was conceived? On the other hand, if you believe that a non-viable fetus is not a live human being, the decision to stop before it gets to that point is independent of any reasoning
Having conditions on abortion are completely nonsensical and irrational. I don't get it
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.
There are a few reasons why it could be bad:
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.
Given the amount of love, energy, and attention it takes to raise a kid, I don't see why I should care how selective somebody else wants to be.
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.
I reject the premise of "live and let live" whereby no one is allowed to suggest I live a better life nor am I allowed to suggest they improve 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.
Let's set the standard at development and genetic disorders.
Eliminating Down syndrome and cystic fibrosis, for example, seems not only reasonable but a moral imperative.
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.
Is there such choice? Today parents are not doing that choice but choosing to stop the life of the kid with Down-Syndrome. So I’m not sure they are receiving „all the respect“ today - are they?
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.
> lead to basically 0% Down Syndrome
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.
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.
Does this make sense to you and her? Does she wish the kid would not have been born?
Are you willing to deny her also the right to that thought?
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.
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.
And in some cases that means 60 years of support that needs to be provided. I can understand why some people would not choose that.
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.
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".
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.
> 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 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.
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.
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.
"has no real future"?
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.
> anyone capable of living happily while being outcompeted by machines is well-adapted for the future.
> I'm not
Why not?
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.
How are they going to prevent stealing of genetic code? With copyright? See how that went with AI.
This is why you should never consent to DNA collection because they will just keep it and sell it later without paying you a cent.
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!
It's not good. They can sell it to insurance companies as well. Who might decide not to provide you with health insurance based on your genetic profile.
Yes, I agree that is not good. But that is a thing the people need to fight politically for to not be allowed. My main gripe is that OP's post sounded like screw the people who's lives that would improve because I wouldn't get paid for it.
You'll are extremely strong. Rooting for you'll!
moments like this really get me excited for AI and the future. im glad their new baby is healthy
Till AI starts denying medical insurance cover.
> Saying goodbye would have been easier had we known with certainty there was no hope.
I found this to be the most interesting theory in the post because I'm not convinced it's at all true.
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.
Is this long-form /r/linkedinlunatics?
> 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.
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.
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“