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Vibe coding my way to a healthy family: Introducing Gamow Labs

206 points by dmckinno

by 331c8c71

3 subcomments

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....

by myzek

8 subcomments

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

by jdw64

0 subcomment

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.

by chamomeal

1 subcomments

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

by teruakohatu

0 subcomment

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.

by data_maan

2 subcomments

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?

by salubrioustoxin

0 subcomment

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.

by epsteingpt

0 subcomment

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

by danielrmay

0 subcomment

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.

by croisillon

0 subcomment

> anti-natal communitarianism of SF
oh boy

by arjie

2 subcomments

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:
```
     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

by LoganDark

1 subcomments

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.

by maaaaattttt

1 subcomments

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).

by ungreased0675

4 subcomments

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.

by fabbbbb

8 subcomments

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.

by aaronphilip03

1 subcomments

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

by cod1r

1 subcomments

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

by ElProlactin

1 subcomments

> 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.

by iamtedd

0 subcomment

Is this long-form /r/linkedinlunatics?

by thefz

0 subcomment

> 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.

0 subcomment

by KennyBlanken

3 subcomments

[flagged]

by tedesign

2 subcomments

This is extremely disturbing.