A Philadelphia baby, born in May, is the first child in the world conceived using a new in vitro fertilization (IVF) technique, which screens embryos for chromosomal disorders and abnormalities before implantation.
People who use this technique will avoid implanting chromosomally abnormal embryos that would result in either not becoming pregnant, or in miscarriage.
The cost-saving implications are huge, but the implications don’t end there. The process can screen the entire human genome and pinpoint not only common genetic problems in embryos, but trait such as hair color, eye color and potential height.
The process, called Next Generation Sequencing (NGS), raises ethical questions.
Dr. Michael Glassner, of Main Line Health in Pennsylvania, partnered with researchers at Oxford to assist in baby Connor Levy’s conception.
He says the team used a “low resolution” version of the technique.
“On low resolution, we’re not getting any other information than we’ve been getting for years,” he said. “But the capability is there, if you do the testing on a high resolution, to detect thousands of different genetic sequencing.”
The high resolution testing can tell, “which embryos have a disease, which embryos are carriers and which embryos are unaffected,” Glassner said. “But the question is, where is your break point? At what point do you say, ‘Alright, there is no other information that is going to be channeled to the couple.’”
Glassner says while the technology is capable of identifying traits such as hair color, eye color and height, that’s not where doctors are focusing their energy.
“Advances in medicine move ahead of the ethical controversies that may be the storm that follows,” he said. “These are obviously uncharted waters. The concept of a designer child is not what most doctors are interested in being part of.”
ROBIN YOUNG, HOST:
It's HERE AND NOW.
At 11 weeks old, Connor Levy had no idea that he's made medical history. But the Philadelphia infant born in May is the first child in the world conceived using a new kind of in vitro fertilization that screens embryos for chromosomal abnormalities before implanting them. The screening increases the chances of pregnancy by about half and reduces the risk of miscarriage by about the same. But the technique raises ethical questions because the process can also sequence the entire genome, revealing not just abnormalities that would prevent pregnancy but which embryos have blond hair or a predisposition for higher cholesterol.
Dr. Michael Glassner of Main Line Life Health Systems in Bryn Mawr, Pennsylvania, partnered with researchers with Oxford to assist in Connor Levy's conception. Dr. Glassner, this new screening procedure was obviously very important to you. Why?
MICHAEL GLASSNER: As a clinician, when you look at a day-five embryo, you can't tell whether it's chromosomally normal or not. And the statistics are staggering. If you are 36, more than 60 percent of beautiful-appearing blastocysts will be chromosomally abnormal. And if you're 42, more than 95 percent are going to be abnormal. So in the past, we're putting embryos in that unbeknownst to us and to the patients were not able to implant and the patient would go through the emotional, physical and financial cost and come out with a negative result.
This new technique, what is done to the embryo is the same process that we've been doing for a number of years, but the difference, as you said in the introduction, is that we're able to sequence the entire genome. So we are checking for thousands of individual genes. What is revolutionary is that it will make the testing of embryos much more affordable. We're looking at instead of $6,000 cost, probably $500. We're entering clinical trials this fall where we're actually offering free genetic testing of the embryos.
Because of the laboratory technique do miss Next Generation Sequencing, this NGS, it will be much more affordable so that those tremendous advantages that you discuss; the higher pregnancy rates, the lower miscarriage rates, less frozen embryos because you'll know which embryos are viable and which ones are not, all of these information will be available ahead of time. And again, because of the lower cost, it will be much more widespread in its use.
YOUNG: Well, how much do you use of this genetic information that you find? One can understand genetic information that might tell you that an embryo wouldn't be viable. In other words, for some reason, it would not implant.
YOUNG: But one step away from that is a generic disorder such as Down syndrome. Would that be then an ethical question to the parent? We see that this has Down syndrome. Do you want us to automatically not use that?
GLASSNER: Correct. Right now, with the Next Generation Sequencing, the NGS, all we're doing is on the low resolution. But even on that low resolution, we will be able to say, all right, these embryos are non-viable. They won't implant. This one has Down syndrome. This one has Turner syndrome. These two has normal. And the patients then elect which embryo to transfer. And even just in a single embryo transfer, you can run a 60 percent pregnancy rate with just one embryo.
As to the other embryos, most of the patients elect to freeze the embryos and mainly addressing that moral or ethical dilemma that you're describing as to, you know, what do you consider viability? What do you consider a pregnancy that should be frozen for future consideration?
YOUNG: Right. So there are those questions. But then it's even more of a slippery slope because you will know what color the eyes, the predisposition to be a good athlete. We're reading in Medical Daily that, for instance, in Britain, currently, doctors are banned from choosing embryos, excepting cases of serious medical necessity. But do you worry about guidance here in the United States, as to how far this might go, how much patients might want to design their embryos.
GLASSNER: Right, and that's where this is such a potentially controversial test. On low resolution, we're not getting any other information than we've been getting for years, but the capability is there if you do the testing on a high resolution to detect thousands of different genetic sequences. Right now, we do genetic testing. And if you have a family history of Tay Sachs or cystic fibrosis, Huntington's Chorea, Duchenne muscular dystrophy - thousands of diseases we can test for - the BRCA genes for breast or ovarian cancer.
So at this point, there - the testing is available through a different type of sequencing where we can tell you which embryos have a disease, which embryos are carriers and which embryos are unaffected. But the question is, where is your breakpoint? At what point is there - there's no other information that's going to be channeled to the couple in terms of the specifics that you're alluding to height, eye color, hair color.
YOUNG: And as you say, right now, you're just doing the low-resolution screening. This is for major chromosomal abnormalities. But it sounds as if you're saying this has been left up to you. Are there any legal restrictions on you giving more information?
GLASSNER: None of the cells, none of testing is going to go to the level of high resolution. It's not uncommon that medicine and advances in medicine move ahead of the ethical controversy that (technical difficulty) that follows. And so these are obviously unchartered waters. The concept of a designer child is not at all what I think that most doctors are interested in being part of.
YOUNG: Yeah. So you're choosing to restrict yourself for those reasons that you just listed. What do you think happens when this gets into mainstream medicine? And how soon do you think that might be?
GLASSNER: I do believe that it will become state-of-the-art within the next several years, especially if we get the cost to $500. Fortunately, even though as a clinician, there may be some flexibility that an individual doctor might have. These are done by laboratories. And as of this point, there's two laboratories in the United States doing this testing and will be partnering with this clinical trial. So at this point, none of the laboratories are talking about high resolution. So hopefully, we'll have multiple stop gates so that the possibility of the controversy behind high resolution Next Generation Sequencing won't upset the progress that this will offer IVF and the patients.
YOUNG: Dr. Michael Glassner, by the way, so you are sort of part of the village that brought Connor Levy into the world?
GLASSNER: Yes, yes. It was - that was a remarkable opportunity, and we were very fortunate that we had this chance to do this. And obviously, for Marybeth and David, Connor's parents, it was a little miracle that this had happened. He was one of three normal embryos, so he does have two normal sibling embryos in the freezer. And the couple assure me that they'll be back to finish out their family.
YOUNG: That's Dr. Michael Glassner, division's head of Infertility for Main Line Life Health Systems in Bryn Mawr, Pennsylvania. By the way, this story came to our attention through HERE AND NOW contributing network station WHYY in Philadelphia and reporter Zack Seward. Michael, thank you.
GLASSNER: Thank you. Have a great day.
YOUNG: So your thoughts. Would this be a blessing for you? Maybe you're trying to conceive, or do you think it's a slippery slope? Let us know, hereandnow.org. You're listening to HERE AND NOW. Transcript provided by NPR, Copyright NPR.
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