Received results from a grant submission to which I provided a minor contribution.
Ranked 6th-percentile out of >170 full submissions.
Payline is 3rd-percentile.
Academia is doomed.
Congrats!
The analysis was led by PhD student Liraz Klausner. Key collaborators include Antonio Capalbo and his team, @toddlencz.bsky.social, and Danilo Cimadomo.
Happy to hear any feedback and comments!
12/12
4) PES has some potential in the fertile population, although many limitations still remain.
5) The above implies that people interested in PES will have to undergo a medically unnecessary IVF treatment, which raises numerous clinical and ethical concerns.
11/12
Take home messages:
1) PES is not too useful for the typical patient who requires IVF for infertility.
2) Patients who test their embryos anyway may as well add PES, but expectations should be low.
3) For the rare patients who have many euploid blastocysts, PES might be more useful
10/12
As expected, egg donation cycles have more embryos and therefore larger risk reductions, up to 20-25%. More promising, but still lower than under prior unrealistic assumptions of having five embryos with birth potential.
9/12
Importantly, we found that risk reductions are much higher when also including "open" cycles, in which not all embryos have been used. We had to impute birth outcomes for the "leftover" embryos under some assumptions.
However, even so, risk reductions are under 5%.
8/12
There are a few cases with greater gains. Risk reductions are higher when only considering cycles with at least one birth. They are higher for younger patients or patients with more embryos. They are also higher when pooling all embryos from all cycles of the patients.
7/12
The risk is lower when selecting based on PRS. But the risk reduction compared to random selection is tiny, here less than 0.5% for all values of the prevalence and PRS accuracy (r^2). Compare this to the previously estimated 50% risk reduction!
6/12
We simulated PRS for the embryos and examined the transfer outcomes (birth/no birth): either when embryos have been transferred (implanted) at random with respect to the PRS or when transferred by increasing PRS order.
We compared the risk of the first born child between the strategies.
5/12
However, could IVF patients have as many as five viable embryos?
We used data on 6944 IVF cycles of infertility patients using own eggs + 2138 cycles with donated eggs.
We considered embryo screening for a single target disease.
4/12
We previously modeled that with five viable embryos, patients could achieve risk reductions of up to ~50% for diseases such as schizophrenia or Crohn's.
elifesciences.org/articles/64716
PES companies used the same model to reproduce the results, e.g., www.medrxiv.org/content/10.1...
3/12
Polygenic embryo screening (PES) is commercially available in the USA and is gaining interest despite clinical, social, and ethical concerns.
The key question: could screening embryos for their polygenic risk scores (PRS) and selecting the lowest risk embryo lead to risk reductions?
2/12
Happy to share a new preprint, where we studied the expected outcomes of polygenic embryo screening in real-world IVF patients.
Key conclusion: gains are very small for most infertility patients, with risk reductions under 5%.
🧵1/12
www.medrxiv.org/content/10.6...
I think there are many arguments against elective IVF - the increased de novo mutation rate is one of them, but I think we don't yet have good data on whether it's real and what's the magnitude.
We definitely don't support elective IVF - I'll post a thread soon for more context.
Thanks, interesting paper - but is it related to the new preprint? (Plus it's in cattle)
Genome-wide genealogies reveal deep admixtures forming modern humans www.biorxiv.org/content/10.64898/2026.04...
Very good to hear!
I didn't notice the down time. But I agree about no engagement - I think only 5-10% of followers here actually read. The rest are probably still at X. Maybe the switch wasn't such a brilliant idea after all. (Though I do like the ad-free experience here).
At least you have grants...
In what sense?
Our special issue KINSHIP TROUBLE is now out in the Cambridge Archaeological Journal, edited by S. Cveček, M. Raghavan, & P. Bickle.
👉 Kinship Trouble: Traversing Interdisciplinary Boundaries between Archaeology, Archaeogenetics, and Socio-cultural Anthropology
🔗 www.cambridge.org/core/journal...
Spread the word! UChicago BSD is currently searching for an instructional professor (open rank) to help develop and support graduate training in quantitative biology at UChicago. This is an Instructional Professor position (open rank). apply.interfolio.com/183517.
Inferring hominin history with recurrent gene flow from single unphased genomes and a two-locus statistic www.biorxiv.org/content/10.64898/2026.04...
Very proud to share our new work on General, orders-of-magnitude faster whole-genome analysis with genotype representation graphs (GRG). We topped ourselves in this one 🚀 and made GRG a practical foundation for biobank-scale population and statistical genetics. www.biorxiv.org/content/10.6...
I don't know, it's tempting, but I think we should be more careful in a case-specific manner.
Interesting
The Columbus fiasco is one example to learn from.
Sequencing painters from art must be better regulated.
And the absolute worst is the shameful Hitler's DNA project. Hopefully it never gets published.
The area of genomics of named historical individuals is developing rapidly but feels like the Wild West.
We need standards and ethical frameworks:
- Who are the stakeholders (descendants/victims/countries etc)
- Who gives consent
- Destructive sampling
- TV show "publication"
- Data access