IVF Babble

Breaking News. The first baby in history to be conceived with the help of polygenic testing

On the 40th anniversary of the first IVF in the USA – the first baby Elizabeth Jordan Carr looks at how science today has produced a new world first – baby Aurea.

Forty years ago I was a few cells in a petri dish in Norfolk, Virginia. When I was born it caused a sensation and a storm of controversy about scientific ethics. I was the first IVF baby born in the USA

It all happened in Virginia thanks to pioneering work by Doctors Howard and Georgeanna Jones, because my birth would have been illegal in my home state of Massachusetts. Today millions of IVF babies have been born through IVF and it brings hope to would-be parents with fertility issues throughout the world.

Those at the forefront of science around childbirth still face major ethical questions and arguments. We do not seem to have learned to trust our scientists.

The first baby in history to be conceived with the help of polygenic testing

Aurea Smigrodzki was born in the USA last summer. She is the latest baby at the forefront of science. She is the first baby in history to be conceived with the help of polygenic testing. The test is fully named “preimplantation genetic testing for polygenic disorders”, or PGT-P for short.

Is PGT-P soon to be as commonplace as IVF, for couples bringing a new baby into this world?

It is a game changer. It has implications for the health of everyone, equally as important as the implications of IVF at the time of my birth in 1982. But as was the case for IVF, all those years ago, not everyone is certain about it.

In the early 80’s, my birth led to criticism from many groups

Debates about ethics, about safety. Legislators across the USA and the world were rushing to the statute books, deciding whether the technology should be banned. Nightmare dystopias were foretold. “Test Tube Babies” and “Designer Babies” were denounced harshly. Some authorities said that discarding unused embryos was abortion. Others (falsely) said that the whole thing hadn’t been carefully tested and proven to work, that no self-respecting Dr should be involved.

IVF is now a globally available, almost universally accepted option for those hoping to conceive

It has changed the nature of childbirth, and even the nature of family itself… giving an option to have a family to hopeful parents who otherwise wouldn’t have the support or science needed to do so. It’s astonishing how much our thinking has changed. The hub-bub back then reminds me a little bit of how it is now, with polygenic screening (PGT-P). The nightmare scenarios that those opposed to IVF envisioned have not come to pass.

Aurea, like me, is a first, and science enabled her birth. Her father, Dr. Rafal Smigrodzki, is a physician. He has seen the impacts of especially heart disease first-hand, and understands the benefits of minimizing these challenges through embryo testing, before transfer of the embryo. He was pleased to talk to me about his situation.

He said: “I heard about LifeView sometime before Aurea was a glimmer in my eye, I’m always paying attention to research and science in general. I didn’t realize that Aurea would be the first baby born using PGT-P. But you know, somebody has to be the first.”

Smigrodzki’s words echo what my parents have always said as well – right down to the fact that  Smigrodzki will tell his daughter how she was born because “Mommy and Daddy needed some help.”

That help came in the form of a genomic report, where  Smigrodzki was able to “meet” each embryo and acknowledge the risk factors associated with it, before choosing the one with the lowest disease risk, especially heart disease.

“Just knowing that risks could be mitigated — not completely eliminated, but significantly reduced — that means a lot,” he said.  “Aurea’s smile tells more about the importance of this risk reduction than any words from me,”  Smigrodzki said. “This is about doing everything we can for her.”

I spoke to another couple who have gone through PGT-P screening

They are an example of just how much IVF has evolved outcomes for couples, and their opportunities for a healthy baby. They want to remain anonymous, so as not to put their child, who will also be one of the first in history, through the criticism which was levelled at my own family at the time. I can empathize. Anonymity (or the opposite) is a decision every family should be allowed to make for themselves.

Part of their caution may be because the couple are two men, an additional concern my mom and dad didn’t have to consider. The couple met over a decade ago, got married, and wanted a family. They worked with a surrogate to carry the baby. Another woman donated her eggs. They went through the legal hoops, and found an IVF clinic. Crucially, they have a frightening family history of breast cancer throughout the generations, but no BRCA1 gene to screen against. So they took the extra step to bolster their hope of having a healthy pregnancy and child that they have long awaited, using PGT-P to reduce the risk of the breast cancer they carry in their family history, along with various heart diseases.

Starting in April of 2019, a total of 33 of their healthy (euploid – having a normal number of chromosomes) embryos were screened with LifeView

The report presented the embryos in order, and presented the one about to become their future child as most likely to be most healthy. 33 embryos, it should be mentioned, is really an abundance of choice. Most couples are not so fortunate to have that many: this was the result of a combination of good luck, a fertile egg donor, and several, persistent rounds of carefully planned IVF, at a top-notch clinic. The PGT-P testing confers significant health risk improvements even when there are only 2 embryos, but having 33 is pure luxury, the health benefit is very comfortable.

This couple wanted a child more than anything, and had a great deal of love to give, but were scared of transmitting health issues in their own genes – mostly breast cancer and heart disease – to their child. These parents were hopeful that PGT-P screening would help allay their fears, and let them give the best they could.

“You know the genetic screening component is a pretty small component of the whole procedure. We were on the surrogate journey for a year and a half. The primary parties that you think about finding are the agency to find the surrogate and the egg donor, and the clinic. The lab that does the screening of the embryo, it’s almost an afterthought.” one of the two men said.

“We had looked around online and had heard about polygenic testing, but the only tools available seemed to be monogenic screens. We were specifically looking for a provider, and the LifeView test was just coming online, so that is how we ended up being among the first.”

His partner said: “Monogenic screening might tell you that one embryo has a higher risk of BRCA, which can result in breast cancer. The polygenic screening gave us a much more sophisticated report and greater choice. But really we just wanted to avoid the embryos that are at really great risk of disease – it is as simple as that.”

“If someone is diagnosed with something like breast cancer, then we’ll spare no expense to save them, and put them through no end of hardship to get them through that disease. Here, in this unique use-case, we have the ability, at relatively low cost, to prevent that outcome entirely. It seems to me that it is such a no-brainer. It is such an obviously morally correct choice.”

IProfessor Simon Fishel, UK physiologist and biochemist, worked alongside Patrick Steptoe and Nobel-laureate Bob Edwards, whose work led to the birth of Louise Brown, the first IVF baby in the world. He was part of the original team of the first clinic in history. He believes the PGT-P screening breakthrough has implications for the world every bit as profound as the births of Louise Brown (and myself a few years later). We were dubbed “test tube babies” and “designer babies”.

“I see so many parallels with the work of Edwards and Steptoe,” says Fishel. “I know from working alongside them that they could not have imagined the extent of the changes resulting from their work on IVF. I firmly believe that if Edwards and Steptoe had not met, then IVF would have taken another 10 years. With the inventors of LifeView, you have a similar meeting of minds that has led to this breakthrough. Edwards even predicted PGT-P, back in ‘93. I’m sure he would be working with us on PGT-P today, if he were still with us.”

Chief Science Officer Dr. Nathan Treff, a molecular biologist, is leading the science behind the innovations underlying LifeView. He has won seven prizes at the American Society for Reproductive Medicine for his work on genetics. He’s working with CEO Laurent Christian Asker Melchoir Tellier and Prof. Stephen Hsu. This team is uniquely positioned, as they have been on the forefront of reproductive health and polygenics for decades, with a long list of papers carefully validating their work, step by step.

Fishel sees a new normal where PGT-P becomes routine, to support parents with healthy pregnancies – reducing suffering everywhere, having a profound effect on healthcare

“We all know the human cost of breast cancer. Screening for BRCA is already being carried out, but there are far more types of breast cancer that are polygenic. We live in a world where women are having preventative mastectomies because they know that they are likely to have BRCA in their genes. They are paying for that financially, and also with pain and suffering.

“I can see the day where these results are just a normal part of your baseline medical notes. A world where PGT is a normal part of reproduction, of having babies. We should be moving faster on this. We have seen in the last year how quickly we can get approval for a vaccine that is currently being injected into people worldwide. PGT-P could prevent so much suffering, and benefit health economics, if made universally available sooner rather than later.”

When I spoke to him, Nathan Treff was encouraged to hear the praise from Professor Fishel, and grateful for his understanding of the challenges and frustrations of being at the forefront of new technology.

He said: “We want to make PGT-P available to anyone, particularly those with histories of polygenic conditions in their families, to have healthy babies.

“I have Type 1 diabetes myself. I have had to learn to manage over the course of my life, since I was young. Diabetes management comes with ups and downs. Struggle with diabetes made me aware that, if I could, I would want to cut this risk to my own child.”

It’s no coincidence that the LifeView test for Type 1 Diabetes was the first the company published. They proved on 3000 families that they can select among siblings from the same family to reduce disease risk by almost 75 percent. It was the first study of its kind.

“As a parent, all you want is for your baby to be given the best shot you can give. Simply the best of what is possible.” Laurent, the CEO, said to me. “PGT-P increases your odds, that’s all.”

Being able to consider so many things about an embryo that is not yet a person, that is not yet even chosen – just an embryo in a dish! – is something I know people will feel strangely about. Just as they did with IVF. Some people still are not comfortable with IVF, 40 years later.

But today, IVF and “test tube babies” is no longer strange for most people. It’s just normal

It’s easy to forget that we didn’t always take it for granted. It’s easy to forget how people talked to my parents about IVF. I was an anomaly all those years ago, but today IVF is the gold standard

I feel that PGT-P is today’s version of IVF

The focus is the same – bringing healthy new life to this world. But it’s gotten better. And I can only imagine that the new technology is here to stay, how could it not be? Every family is unique, and PGT-P just makes IVF more personalized.

Everyone always asks me if I grew up feeling “special.” I hope babies born from PGT-P screening will grow up to answer this question as I answer it: I’m special because my parents worked hard to have me, and if it wasn’t for the work of some very dedicated scientists and doctors, I wouldn’t be here.

Learn more about Elizabeth here

Elizabeth Carr, the first IVF baby born in the US, joins as columnist

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