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

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:

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    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

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?

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 leave alone and have an independent daily live.

Life expectancy is up to 60 years.

Yet in Iceland „Democratization“ of genetic diagnosis lead to basically 0% Down Syndrome kids.

Where does this stop? What with someone of a genetic indication of aggressive cancer- life expectancy 55? Abort?

The same (detectable) genetic mutation leads to vastly different lives.

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.

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.

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.

moments like this really get me excited for AI and the future. im glad their new baby is healthy

This is a heartbreaking story and you can't imagine a more motivated founder.

Godspeed.

> anti-natal communitarianism of SF

oh boy

Huh.

> It was clear that something about my approach was interesting.

But no approach. Not even a hint.

I do hope it pans out. I do understand it must be a trade secret in order for you to have a business, but I'm still a little underwhelmed.

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.

You'll are extremely strong. Rooting for you'll!

This is extremely disturbing.

Really gotta love people who trauma-dump with no appropriate boundaries.