By CRG staff - interview with Paula Amato

from GeneWatch 27-3 | Sept-Nov 2014

Paula Amato, MD, is a board-certified Reproductive Endocrinologist and an Associate Professor in the Department of Obstetrics & Gynecology at Oregon Health & Science University.


GeneWatch: As you know, this issue of GeneWatch focuses on "nuclear genome transfer," or "mitochondrial transfer," or "mitochondrial replacement," or whatever you prefer to call it. Some of the other contributors object to the approval of this technology on ethical or medical grounds. So: What are they missing? What's the best argument for going forward with these procedures?

Paula Amato: Right now there's no cure for mitochondrial disease, but this could theoretically be an avenue for prevention. These children, as you know, have very devastating diseases, and they usually die at a young age. The other methods we have to try and prevent it - like preimplantation genetic diagnosis - don't work very well for mitochondrial disease because of the way mitochondrial DNA is inherited. So this would potentially offer a way of preventing the disease in children. It has been shown to be effective in monkeys - and I would agree that monkeys aren't people, so it certainly doesn't guarantee that it would be safe in humans. I think it's reasonable to do as many studies as we can using human tissues in vitro before we try it in vivo. But ultimately, the reality is that we probably won't know until we actually do it in humans, transfer an embryo and create a baby. And that's true for a lot of the technologies in reproductive medicine. We've always tried to do it first in animals and then in vitro in humans, but ultimately until we do it in humans we're never quite sure that it's going to be safe.

Would you say this is something fundamentally different compared to other assisted reproductive procedures used today?

A lot of the process is quite similar. The whole ovarian stimulation and the embryo transfer part would be similar. The difference is the technical aspect of taking the nuclear DNA out of one egg and transferring it into a donor egg that has had the nucleus removed. That part is novel; it has not been done in humans before. I mean, we've done it in human eggs and made embryos in the lab, but we have not created a baby. In some sense, it's kind of similar to a donor egg, where you replace the entire genome, nuclear and mitochondrial DNA. It's similar to that, except that this requires more manipulation of the egg.

Do you have concerns about the safety of these procedures, either for parent or child?

I do, more so for the children. I think the process that the parent undergoes - the in vitro stimulation, retrieval, and transfer - we've been doing that for more than 35 years. There are some risks with that, but they are relatively safe procedures. I think the big unknown is the result for the child. And of course I do have questions, and I worry about whether it's going to be safe, but I think there is a strong enough reason to try it and to find out, after appropriate numbers of studies have been done.

It's pretty hard to argue that these procedures qualify as "eugenics," but do you have concerns about this technology leading to something like that in the future - to use the media's favorite term, "designer babies"?

I think that's always a concern, but I don't think this technology is unique in that regard. It is not enhancement per se, it's really about prevention of disease. I think that risk always exists, but I don't think it's sufficient reason not to pursue this technology. Technology can always be misused, whether it's medical technology or military technology or computer technology, but I don't think that's a reason not to use it for positive purposes.

You practice as a reproductive endocrinologist, right? So if a woman came into your practice and said, "I have mitochondrial disease and I want to have a baby using one of these procedures," how might you respond? Obviously that's making some assumptions since it's not legal at this point ...

Right - that would be a barrier! I'd explain that currently, in the United States anyway, we can't really do that procedure because it's not approved by the FDA. We'd like to do a clinical trial, but we're waiting to hear from the FDA on that.

But assuming that at some point it was approved, it would be similar to other medical or reproductive procedures: We would speak with the patient and make sure she has given informed consent about all the potential risks to her or her baby; we would offer her counseling; and we would certainly do it, at least initially, under the auspices of the IRB as part of a research protocol, since we would want to gather as much data as possible to make sure that it's safe.

Do you have a sense of who would be using this?

I think initially it would be women who are carriers of the mutation. Most people don't know they are carriers until they have a child who is diagnosed with a mitochondrial disease. The mothers of those children are the ones we would be offering this technology to. It's not a very common disease, so I don't expect the uptake to be great, just because the numbers of eligible patients probably wouldn't be great. And there's always the cost issue; IVF in general is kind of an expensive procedure, so there probably will be issues of access, just as there are for anyone using IVF.

There are other potential applications for this technology. Aging eggs are thought to have acquired mitochondrial mutations, so in the future, if this is shown to be safe in women who are carriers of mitochondrial gene mutations, this might potentially be a therapy for age-related infertility.

Given the cost issue, and the possible safety issues, some people might ask: Why not just adopt?

That's an easy thing for people to say, and infertility patients hear it all the time. I really think it's unfair. It's fine for people to make their own reproductive choices, and I think adoption is a great thing, but I don't think it's unusual or selfish in any way to want to have a genetically related child. I think it's a basic human instinct, and I don't think in general that people ought to be making reproductive decisions for other people.


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