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Over the summer, on Bloomberg, opinion piece pointed out that new research shows Americans need greater access to genetic testing and stronger legal protections against genetic discrimination. According to a recent study that was published in the American Journal of Human Genetics Now, the study of DNA samples from the Penn Medicine Biobank found that a quarter of adults under the age of forty who had been admitted to the Penn Medicine ICU carried a mutation that would have been
relevant to their treatment. So it's just talking about the importance of understanding your genetics and what it could mean for.
Health, and that genetic testing what becomes available changes so frequently, I mean year to year, they can identify more and more.
Yeah, exactly, And our next guest has a vast body of work when it comes to the field of genetics. Let's get to our weekly BusinessWeek Women's Health segment, where we focus on key issues and developing technologies impacting the present and future of women's health around the world and really in many ways, everybody's health around the world. Joining us right now is doctor Wendy Chung, Chief of Pediatrics
at Boston Children's Hospital. She is the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School, and she joins us from London, where it's a little bit later. So thank you so much, doctor Chung for joining us. You have spent more than two decades as a clinical and molecular geneticist and have directed many NIH funded research programs. Got to ask, are we at a good time for healthcare advantage advancements excuse me? Or are we possibly going backwards?
We have amazing opportunities, amazing opportunities specifically around genetics, both in terms of diagnostics, predicting and being able to tailor health and health prevention and health treatment based on that, in new things in terms of therapeutics, especially in the rare disease space. So it couldn't be a more exciting time in terms of the ability to scale this, to use data, to do it more accurately, and to get it to more people where they're at.
It sounds exciting and the opportunities sound exciting, But we're at a point with the United States, where we don't have great outcomes compared to the rest of the world. We lag when it comes to other countries and their health outcomes. Why is that? From your view?
In many cases it's due to access. And as we think about this, we're trying to think of ways that we can provide care anywhere. So are there ways to think about how do we get access to patients where they are in ways that can fit in with their lives and get them really news they can use is the way I think about it, when they can use it just in time to be able to do it, ingest it, understand it, and apply it in ways that
really fit in with their life. We have amazing opportunities, but we don't do them equitably for everyone.
Well, you know, doctor Chung Tim and I spend so much time talking about the case shaped economy, right, and that on an economic level, not everybody benefits from the US economy, even in good time. So that obviously carries over to healthcare. If you could change one thing, what would it be that would make healthcare more equitable?
So if you can imagine this future state, I've been running a study in New York City called Guardian genomic uniform screaming against rare diseases and all newborns for a baby when they get their heel prick right after bruth to be able to screen for disorders that are treatable
and curable, things like penal keaton area. Now, can we think about blowing that up in a good way by being able to do genome sequencing to identify all the treatable conditions so that everyone gets access to this and for those same children, if they get sick and have symptoms at some point in the future, reinterrogate that genomic
information to make the diagnosis essentially instantaneously. So if they're having breathing problems, growing problems, problems with developments, not hitting their milestones, can you get the diagnosis very very quickly to start the journey and make sure that diagnostic odyssey doesn't go on for very long to start the treatment.
All right, logical question or follow up? Why don't we do that? Is it just too expensive or what?
You know? It's funny.
I was talking to an individual who's from South Korea or has family back in South Korea and says, you know, every year you can go and you can get a body scan head to toe, not crazy expensive like it would be here in the United States, and you can get potentially early signs of something that's that's not good. So I'm just wondering when it comes to why don't we do these genetic testing? Is it not available? Is it too expensive?
So it is being done on a research baso's on a very small number of newborns right now, but all throw down the gauntlet. I think we can drive down the price of doing being able to do this, and right now, let's just say it costs thousand dollars per
baby to be able to do this. That's probably not something that we can scale at three point six million babies born each year, but if we can drive down the cost by fifty percent seventy five percent, I do think if you look at the health economics in terms of the return on investment, it easily pays for itself over it to in your period.
What about when it comes to using that data for technologies such as gene editing. And we spoke to Jennifer DOWDNA, the twenty twenty Nobel Laureate a few months ago at our Bloomberg Technology conference back in San Francisco. She was very optimistic that we will see this happening more and more in humans. Will this become just the standard of care in your view for kids who have genetic disorders.
So I do think for these single gene conditions, platform technologies such as what doctor DOWDNA and others have developed, they're not quite ready for prime time to just dial in any particular genetic edit and fix it. But we are getting towards those platforms to be able to do this, and I do think that over the next decade we're
going to make tremendous strides. And I do think from a regulatory point of view, the FDA and other regulatory agencies understand that within rear diseases, you need to think about platforms and being able to use information for one rare disease in terms of treatments for others, and to understand the safety profile and use that across conditions. And so for the seven thousand rare diseases, I don't think
we have to solve the problems seven thousand times. I think it's going to come to a much simpler number of solutions.
Hey, one thing we wanted to ask you about recent article in Nature. You were quoted that MAHA's spotlight on children's health is welcome and that this could be the decade of the Kids, and that would be an amazing thing. How So, especially when we see an administration a Secretary of HHS pushing back on things like vaccines and other policies that research has showed has definitely improved health in the United States.
So I think if you think about the technology that I talked about with newborn screening, it can be applied
to any number of things for children. So that again, if you know where the pain points are, if you know what the susceptibilities, you can think about everything from how a child can learn better, if they're going to have certain challenges in terms of understanding learning behavior, how to be able to tailor things to them, if they're going to have problems in terms of a tendency towards type one diabetes, asthma, even cancer in the future, how
do you tailor their surveillance the particular things we monitor, how frequently we monitor, So it's not a one size fits all for everyone. You really get more out of the energy and the money you're putting into it because it's tailored for the person. And I do think both in terms of being able to have biomarkers looking at disease progression and genomics to guide you, we can do much better because we have enough data now to be able to understand those patterns and profiles.
We've run out of time, but hopefully come back real soon because I know emerging technologies, whether it's artificial intelligence or quantum computing, which all of a sudden this week we're talking a lot about, are going to be very important metrics when it comes to disease predictability. So please please come back really soon. Doctor Wendy Chung, chief of
pediatrics at Boston Children's Hospital. She is the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School, and she's joining us from London