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My wife and I have a whole-genome sequenced embryo that we selected based on Orchid’s results. In our case, we were trying to avoid a specific kind of hearing l
by arjie 1y ago
My wife and I have a whole-genome sequenced embryo that we selected based on Orchid’s results. In our case, we were trying to avoid a specific kind of hearing loss caused by a mutation in GJB2.
People often try to bill these technologies as “trying to control everything” or “trying to make the perfect child” or all this business about “tech people think they deserve what they have due to their genetics” (paraphrasing Sasha Gusev) etc. but I don’t think that’s the driving impulse for most parents.
The reality is so much more complex than the headlines people chase. One couple who I spoke to who were considering this were afraid of the opposite of the intelligence chase. The mother was concerned that she’d pass on her Asperger’s Syndrome. Another friend of mine doesn’t want to have kids because her brothers (and other male relatives) have schizophrenia.
In my family’s case, we will not have boys (coincidence: all our female embryos are the ones unaffected) but that’s fine. Our baby girl is a beautiful happy child and even if she weren’t, she’d be mine and I’d love her as much. But being able to increase the chance she has the full sensory experience available to mankind brings me a bit of content.
I hope all of these people I have met who fear genetic disease will be able to mitigate the risks as well as we have. Ours is monogenic, but as polygenic prediction improves their chances will improve too.
People on the happy path don’t often realize what it’s like for those not on that path. In our family, a cousin had her child via her last embryo. That also happened to a friend. Imagine if the last one had a debilitating condition that could be edited out. Most parents would choose not to have that child and then they would simply be childless.
In some future world, those people could have the condition edited and they could have the child.
Finally, here are the notes I made throughout the process:
https://wiki.roshangeorge.dev/w/IVF https://wiki.roshangeorge.dev/w/IVF
And a view into my genome
https://viz.roshangeorge.dev/roshan-genvue/ https://viz.roshangeorge.dev/roshan-genvue/
And a link to my comment on an HN article on something similar: the potential for removing trisomy-21 (Down’s) from an embryo https://news.ycombinator.com/item?id=44677834 https://news.ycombinator.com/item?id=44677834
- mrsvanwinkle 1y agoThis is extremely helpful to me, thanks so much for sharing.
- bonsai_spool 1y ago> The reality is so much more complex than the headlines people chase. One couple who I spoke to who were considering this were afraid of the opposite of the intelligence chase. The mother was concerned ... The problem here is a tragedy of the commons - the people you describe are avoiding a certain kind of pain (a child who will die early, or who will have a condition that the parent already has) and exchanging it for both 1) the uncertainty that the child will have unknown other issues, either due to the genetic sampling process or due to whatever genetic interventions are made, and 2) the chance that future humans will need to support the changes that the parents have introduced to the human germline I work in this area of biology, and, as far as the editing tools go, none of these tools are as foolproof as they are described. I recognize the human sorrow of not being able to have the particular kind of family one always wants, but I feel we forget the significant downside potential to the rest of humanity. --- lastly, regarding trisomy 21 - I have more sympathy around 'repairing' individual single-nucleotide variants and I suspect that it will be attainable at levels nearing perfection in our lifetimes (so error rates below 1E-11 if we want 1% chance of any off-target lesions). I do not see how this is ever going to happen for trisomy 21 repair - the only realistic possibility is screening to avoid it.
- ChadNauseam 1y agoMy interpretation of the discussion is not about editing, but about simple selection between unedited embryos
- code_biologist 1y ago100% — editing is trivial to argue against. Embryonic selection is much more difficult to mount clear, decisive arguments against. Let's make sure we don't end up with net skewed sex selection, and not screw up gene/phenotype correlation too badly when selecting. Random selection of an embryo without a specific gene defect seems ultra benign though. I know edited humans will exist at some point, but I hope that easier availability of selective technologies will act as a pressure relief valve for parents that are potential customers / commercial backers of embryonic editing.
- zekrioca 1y agohttps://en.wikipedia.org/wiki/Eugenics https://en.wikipedia.org/wiki/Eugenics
- zinodaur 1y agoThis kind of stuff is taboo for a reason. There are so many ways for it to go horribly wrong for society. Sure, it could be used to make the world better. So could the internet. How is that working out for us? Do you think that corporations whose only motivation is profit will treat this technology with the respect it requires in order to not blow up in our faces? Do you think that governments will be able to resist the pressure that capital will put on them when restricting the use of this technology?
- notyourycombo 1y agoCan you speak to why you and your partner elected to do WGS, when you could have opted for more specific targeted testing of GJB2? I'd imagine that both you and your partner already had comprehensive carrier screening and most fertility centers would not implant an embryo with any known aneuploidies. What were the main advantages of WGS in your view?
- arjie 1y agoGoing off my memory here: * The labs that did traditional PGT-M available to us wanted embryo biopsy, parent samples, grandparent sample. The PGT-WGS guys wanted embryo biopsy, parent sample. For reasons specific to us, grandparent samples were not easy - and I found the reason for not requiring it convincing. * I preferred moving from the biology space to the data space because: * * At the time, only some 25 years had passed between the association of the variant with hearing loss and our attempt. There was a reasonable possibility our last child would be 5 years out from there, depending on implantation success, needing to go to surrogates, etc. That's a fifth of the way again from original discovery. It's entirely possible that new associations are found in that period. * * I am a bad biologist, but I have a degree in Mathematics and I would say I'm a competent programmer. I should be able to stitch together a minimal bioinformatics pipeline, if required, with the assistance of my cousins (two of whom have Ph.D.s in Molecular Biology). * I trusted the WGS process more because of greater effective transparency. At the end of the process, I requested and obtained the FASTQs for our embryos. This is far superior to receiving a Detected / Not Detected result.
- deleted 1y ago[deleted]
- tptacek 1y agoFor the record, I don't know that Gusev is skeptical of genetic scoring for disease/disability markers, since that seems to be his professional research area --- a thing he's actually working on, constructively, not just critically. Like, intelligence gets all the press (or at least all the Twitter threads), and there the story is much murkier, but I don't read him as dunking on the kind of thing you're doing.