This Technology Lets Parents Screen Embryos Before Birth

The algorithms demand that we grab your attention in the first few seconds of a video. So we've brought out the big guns: June and Evelyn.

You really want to walk and explore, don't you? Yes, you do.

But these are not just adorable babies being adorable for audience retention. These babies are at the center of one of society's next big debates. They were made with the help of a startup called Orchid. It performs genetic screening on embryos and promises to help parents have healthy babies. And as it turns out, healthier babies are controversial, and we're here to tell you why. In April, the New York Times published a long piece about Orchid and its founder, Noor Siddiqui. The headline asked, "Should human life be optimized?" Many adults obviously try and optimize themselves all the time. This question, though, was aimed at the optimizing of embryos, at making genetic changes during the IVF process, either to block diseases or one day to genetically enhance kids. When the story hit, some people cheered. Others peppered Noor's X account with critiques, and vitriol. Messing with babies, with life, with the idea of God's creation is where science and religion and the past and future collide. At the center of all this, of course, is Noor and her company.

Orchid is the only company in the world that can do whole genome sequencing on embryos. So what that means is that we can collect 100 times the data on embryos compared to traditional methods and What you can do with all that data is that you can scan for thousands of different genetic diseases that previously you couldn't diagnose or prevent until after symptoms already emerge and the baby's born. So with Orchid, you can actually select an embryo that's healthy so that your pregnancy and your baby also goes on to live a healthy life.

The Orchid service is aimed at parents going through the IVF process. Embryos are produced and Orchid sequences their DNA.

There's kind of two steps to it. The parents can come together, get sequenced, sort of see how their genes line up together.

Yeah, yeah, yeah, exactly. So we have a simple way to kind of get the early parts of the information, which is that there's a saliva test. So they get reports on themselves, but they also get simulated reports on their embryos. That can be a really useful tool because instead of it being an abstract idea, you actually see simulated embryos based on, you know, you and your partner's DNA. So then you can see, okay, does it make sense to kind of go the old-fashioned way or is there, you know, a really large potential real risk reduction by actually creating and screening embryos. So it makes that very concrete for parents. And then the part that's really, really cool, you know, sci-fi, first time ever, is that instead of it just being a possibility, we can actually sequence the entire genome of an embryo, which is 100 times the data compared to any other alternative, so that parents can actually select the embryo that actually is lower risk.

It then compares the genetic results against huge disease databases.

If you look at the genes that we're screening, I mean, just on the birth defects panel, it's like, let me look at this. It's just literally hundreds and hundreds of diseases. The average person going through IVF is screening zero genes on their embryos, right? So we're going from zero to thousands. So it's like a massive increase in the amount of data.

Noor studied computer science at Stanford, and while there, started blending her interest in AI and genetics. She then started Orchid in 2020, with her family's own history in mind.

My mom got diagnosed with this disease after many years, which, you know, unfortunately resulted in her losing her vision. So she started by losing her night vision, then she lost her peripheral vision, and then as the disease progressed, she lost her central vision as well.

And this was from a single gene type disease?

It's from a typo. So basically it wasn't inherited from either grandparent. It was something that was a de novo or spontaneous thing that happened to her.

Okay.

That's what's kind of crazy about genetics is that you can have this ticking time bomb that can, erupt as early as first, you know, 20 weeks of your pregnancy all the way to your early adulthood, to your late adulthood. Like my mom's condition, you know, she was actually sighted until her mid-30s and that's when she was diagnosed and the degeneration started. So you never kind of know when those time bombs are going to erupt. So yeah, the reason why I'm so passionate about the company is like I wanted this for myself. Like the first embryos that we ever tested in the lab were my own because I want my kids to not have to go through what I've seen happen to my mom and other folks in my family. These are my embryos. So I had, I think it was 19 or 20 eggs, and then I ended up with 16 embryos.

Okay.

And then this is all that the old school testing will tell you, right? It just tells you, do you have the correct or incorrect number of chromosomes?

Yeah.

Super low resolution. Orchid goes so much deeper. So you can see literally hundreds and hundreds of diseases are being screened, and you can see microduplications and deletions. Basically, pretty much for every organ system, folks have cataloged single genes that make you much, much more likely to develop the disease. And then this is the genetic risk score stuff that we were talking about, right? So these aren't single genes, but this is actually millions of variants that are collectively driving risk.

So one embryo had this elevated risk of breast cancer.

Right, for breast cancer, right? So that looks fortunately normal for the monogenic conditions, but elevated for breast cancer. So the base risk, the population average risk for breast cancer is about 13%. This embryo is at 37% lifetime risk, so significantly elevated. And we actually have a board-certified genetic counselor who's kind of going through this report fully with the patient. It's not like they're kind of— this isn't like unleashed on them. They kind of walk through this in quite a bit of detail.

Orchid began offering its service in late 2023 and has been teaming up with IVF clinics around the country. The IVF process is expensive on its own, and Orchid adds another $12,000 to the bill if you want to screen a handful of embryos.

Which is pretty much in line with what kind of like a healthy adult clinical whole genome costs. So if you wanted to do whole genome sequencing and you have like millions of blood cells or saliva cells. Unfortunately, when you have only 5 cells, you have about 30 picograms of DNA. So you actually have to copy it over 10,000 times to get that sort of minimum quantity to throw it on any sequencer. So that's kind of really where the Orchid magic comes in, is we, you know, invented a proprietary, uh, chemistry or protocol to actually get full genome data. And now we're really proud that not only are we delivering reports on embryos, but lots of healthy babies are being born.

To date, it's been popular in Los Angeles and Silicon Valley among wealthy tech-forward folks. As an example, may we present you to a wealthy tech-forward person.

My name is Kevin Hartz. I've grown up in the Bay Area, lived here all my life. I'm involved in tech, have started a couple of companies, and, you know, we just made a big life change. We've got two new babies.

It's a bold move.

Thank you.

You go on the second round.

If I can be so bold, how old are you?

I'm 55.

55. And so, yeah, taking on two babies now.

You're not supposed to admit your age in Silicon Valley, but I couldn't be more delighted. We call it our second cohort.

Kevin and his wife Julia co-founded the events marketplace Eventbrite. They're middle-aged and already had two teenage daughters when they decided to raise a Series B round.

Yeah, well, I know your first two children were the old-fashioned way.

Yeah.

And then obviously you're taking a different approach here. I mean, tell me why that was attractive to you or interesting.

Well, I happened to get involved in, in Orchid as an angel investor, so I should probably make some type of disclaimer.

Disclaimer.

Disclaimer. And we invested in the company even before we thought of having this so-called second cohort. I think we're just anti-empty nesters.

Yeah.

And we've fixed that. You could say.

You guys always knew you were going to do IVF with the second cohort?

It was a necessity in that case. Okay. Orchid is focused around, you know, those things that could be very impactful to a child. And we have had neurodegenerative disorders in our family, and there was one indication there was the presence of that in some of the embryos, and that alone made a big difference. I lost my mom last year to Lewy body dementia, a terrible disorder I just wouldn't wish on my worst enemy. And my father has Parkinson's. So any way to mitigate those types of issues is really no-brainer. I mean, it seems like a miracle to us, but when we saw what had been developed at Orchid and the array of information it gives, it's really just the next step in how technology works.

The embryo sorting work that Orchid relies on takes place in IVF clinics. Like this one in Mill Valley, California.

Before I became a fertility doctor, I was like a high-risk doctor, so I'm very much focused on health. Part of the reason I'm in this field is to start health at the very beginning before we get problems, right? So we're gonna do an egg retrieval in here. Takes about 10, 12 days to make the eggs. So typically you would be doing ultrasounds maybe 4 times during that 10 to 12 days. What you're collecting is fluid. We're obviously not seeing eggs with their eyes.

This is actually a really important point. So you have to have a really well-trained embryologist. Dr. Yuslik has some of like the best embryologists in the country because they're literally fishing eggs out of this fluid. So the speed at which they do that determines, you know, how many eggs, how many embryos you're going to have. So the embryologists are a huge part of that.

Oh yeah, yeah, massive. Yeah, I mean, general rules, you kind of live and die over the laboratory. But I don't want to, you know, I am a, I'm a physician, I'm a lab director too, so I don't get offended.

But Pamela Yengo is an embryologist extraordinaire and showed us how to dabble with the miracle of life.

I probably have the awesomest job in the world. I get to help grow families in the IVF lab.

You see happy, happy people at the end.

Yes, yeah.

Orgit's version of this process has 3 basic steps.

So in there is basically where all the magic happens.

Okay.

So that's where we get the egg and we get the sperm and we combine it to make embryos.

The sperm can make its way over on its own or get some help.

The other way is through something called ICSI.

What does ICSI stand for?

ICSI stands for intracytoplasmic sperm injection.

Okay.

I'm gonna take them to a specialized scope so that I can place the sperm inside of the egg, being really careful not to disrupt anything. And that's it. So ICSI is a tool that we use when couples need kind of more assistance to get to their goal. But if possible, we try to use conventional.

You're really good at this.

This is crazy.

You're like an egg sommelier or something.

Next up, the inseminated eggs go into the incubator.

And if you see those guys right there, those are called pronuclei. So one of those comes from the sperm and one of those comes from the egg. Yes. So when I see that, it's no longer just an egg. Now it's an embryo.

Yeah.

And because we're using a time-lapse incubator, we get to observe the whole process. So it split. It went from 2 cells to 4 cells.

Holy cow, that is cool.

And now it's at 8 cells, and it's just getting bigger and growing. And essentially it's like, where is my uterus? Where's my home? So we're ready to biopsy it.

This is where you would grab a handful of cells for orchid.

Yes.

Okay.

It's from these cells that Orchid will sequence the DNA.

I break a little hole in the zona and enter in with my biopsy pipette. I have a laser and I'm hitting it a few times. I'll take one biopsy of approximately 5 cells and I want them to kind of be intact and not lysed so that it preserves the DNA quality. If I were to describe it in real life, it's almost like if I had a bubblegum balloon and I'm trying to take a piece off of. It's very sticky. It's hard to— I can't just cut it. So, and at that point it's fully pulled away. And so I'm releasing it from the embryo. And embryos usually survive this process pretty well. And I have the biopsy piece that I'm now ready to send off to Orchid. What's crazy is meeting Kit, who I literally like froze, I thawed, I picked out, I held in my hands. And now she's this amazing little girl who like It's wild.

Yeah, very cool.

Do they remember you?

We have a special bond.

Yeah.

And it's, I don't know, maybe energetically I was her first babysitter and caretaker. And maybe she senses that and feels that. It's a possibility.

Yeah.

I like it.

After all this meticulous work is done, prospective parents receive a data download on their embryos.

—of these, like, monogenetic single genes. Yes, yes.

So basically, this is a curation panel for intellectual disability and autism. And then you can see all the different genes and all the different syndromes. And it's, like, pages and pages of this, right?

And you're trying to, like, eliminate these rare diseases.

Yeah, we want to eradicate all genetic disease. I mean, that's kind of, like, the big mission here.

The most popular consumer DNA services, like 23andMe, only look at a tiny fraction of a person's DNA. Orchid, by contrast, is sequencing the entire genome of embryos.

This technology hasn't been updated in, like, 15 or 20 years, we're still using really, really old technology to get really low-resolution data, just chromosomes, right? So chromosomes, you can think of them as sort of like chapters in a book. So it's like, hey, you got the table of contents versus, you know, what Orchid is doing is, you know, we can actually read every single letter. So like, you wouldn't accept, okay, I'm only going to typo check the table of contents of my book. You'd be like, hell no, no, I need to typo check every single word.

This gives it much more information to work with and a much clearer picture. Of the potential for disease.

The way that you can think about it is that you have 3 billion letters, right? A, T, C, G. You break those down to genes. Genes are just segments of DNA. So genes can be anywhere from 1,000 to 20,000 bases. You can have typos too. Any different way that you can mess up a string or a word, you can actually mess up a gene. And unfortunately, that causes disease. There's thousands of these different diseases that are individually exceedingly rare, meaning like, you know, less than 200,000 people. That's how it's defined in the US. But if you add them all up, you're talking about actually 10% of the US population, around 30 million Americans are affected by these rare genetic diseases, and 95% of them have no treatment, right? Think about that. Forget about a cure, right? 95% of them don't even have a treatment. And about 50% of those who are affected are children. You know, having babies is probably one of the most fundamental parts of life, but we really haven't seen a major innovation, I would say, since IVF, which happened 40 years ago. The thing that I think is, like, insanely powerful and exciting here is that, like, the polio vaccine was really amazing, and, like, the smallpox vaccine was really amazing, right? These are, like, one of the coolest things in modern medicine, but it was just one disease, right? Here, parents have the opportunity to just eradicate thousands of genetic diseases at birth. The impact here for your baby is massive. You're talking about a lifetime of medical bills. You know, it's like, hey, if we get this working, babies don't have to have genetic diseases anymore, right? Obviously, parents have to sign up for it, they have to choose to use it, but I think the impact there was, like, super palpable.

To me, there are elements of ORCID that are inevitable. If given the option, most people will want healthier babies.

Like, if there are reasons that are religious or otherwise, then, you know, maybe that isn't for them, but it's something that I think every parent should consider and look at. You know, I would want to know and understand if there is something potentially devastating to the health of my child. You want that assurance of a healthy child, and this seems like the right option to do this. Yeah.

We're basically building off the shoulders of giants here, right? So IVF itself is obviously like this amazing invention, right? It started out in this sort of experimental and research category, but now it's really evolved. It's sort of become something that, you know, is pretty routine actually, right? So this procedure of actually sampling embryos has been happening for over 15 years.

And this service will not just be for wealthy folks for very long. It will become popular and affordable. This is the nature of these things and of progress.

It's very expensive now, but in 5 and 10 years, it's going to be broadly available and at a very low cost. We've seen the cost of sequencing come down dramatically. And as these get to market and more families use this product, I see this as kind of democratizing. In 10 years from now, we would also hope that insurance and others would actually cover something like this, because I feel this is something that every family should have the right to access.

But will everyone trend toward IVF babies? Will society be okay with enhanced children? Will sex really be just for fun? These are more complicated questions, and we should start thinking hard about them now.

I think the term super baby can sound kind of sensational, but it really is super to be able to massively mitigate all of these risks that previously you're just rolling the dice. I mean, you literally have completely random outcome if you do this the traditional way at home versus for the most important person in your life, the most important decision in your life. Do you want to leave it to random chance. I don't think people do. I think obviously we had to in the past. The genetics of your baby determine everything about their health, and previously we had no control over it. We just had to roll the dice and see what genetic lottery you won or lost. And now that's actually in the parent's control.

As the fields of medicine and technology further and further intersect, these questions, you know, should be raised and should be discussed and should be defined. Mind and should be legislated. I just have good faith that in the hands of the right people, the right decisions will be made. If you point to social media, we had a lot of issues and things go awry there. This is a much more regulated and much more scrutinized area. We just have to keep emphasizing that things are done very above board and stay in the good hands of people in medicine and tech that are making good decisions. And I feel confident that we'll stay on that right track.

And as this technology has rolled out, I mean, there's been some people that are super pro, and then some people— I don't know if like backlash is the right word, but to your point, we'll sort of start having these debates soonish.

Uh, the sooner the better.