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Genome-informed medical care is becoming better known, especially in cancer care.
But what if we could take individualized medicine a huge step forward?
In his talk, Dr Robert C Green, professor of medicine at Harvard Medical School, shares a big idea.
Imagine a world where we're able to treat people before they ever get sick.
For Robert, that means sequencing a person's entire DNA when they're born so that, as that child grows and science progresses, scientists and doctors are able to revisit and reanalyze that DNA over and over again to identify genetic conditions before they strike.
He lays out this work, how AI is involved, and more coming up.
So, on April 22 2015, a four-day-old baby girl in Boston let's call her Baby Maria became the first healthy infant in human history to have her genome comprehensively sequenced, comprehensively analyzed, as part of a clinical controlled trial in preventive genomics.
Now, why is this important?
It's great to be first, but it's important because when children are ill, everybody's upset.
But when children remain ill and doctors can't figure out what's going on Well, that casts their parents into a diagnostic odyssey that can take years and be incredibly agonizing.
It can create all sorts of misunderstanding, misdiagnosis and mismanagement.
Now, sometimes those children will go on to get genetic testing and sometimes they'll find an answer.
And sometimes those answers mean that you can treat the child, but by then, it can be too late.
The damage is permanent.
This is particularly tragic because there are so many treatable genetic conditions today and there are going to be even more with gene editing cell and gene therapies.
In fact, it's been suggested that over 90 percent of genetic conditions will be treatable in the next few years with gene editing.
So the key to this is obviously finding these children early, actually analyzing their DNA at or shortly after birth.
And so 10 years ago, I pulled together a team at Harvard Medical School, Mass General, Brigham Broad Institute, Ariadne Labs, and got together with a brilliant group of co-leaders Helen Beggs, Amy McGuire, Heidi Rehm and Ingrid Holm.
And together we launched the BabySeq or Baby Sequencing Project, the world's first trial of newborn genomic sequencing.
Now, when we presented this information at medical meetings, we didn't quite get the reaction we were hoping for.
People were aghast.
They thought we were going to do terrible medical things to these children.
They thought there was going to be catastrophic psychological distress and they thought we were going to spend all sorts of money.
So we've spent 10 years exquisitely studying the medical, behavioral and economic impact of newborn genetic sequencing.
We don't have all the answers yet, but I have to tell you that what we've discovered so far is pretty reassuring.
Now, what was really surprising about this was what we found in these normal babies.
If you take, let's say, 400 genes which represent conditions that are treatable today, absolutely treatable, in about 1000 families.
We found mutations in those genes in about four percent of these babies.
Four percent.
And if you expanded that gene list to be, let's say, 5000 genes long, and that includes conditions that aren't treatable, yet conditions that maybe attack you in adulthood, we found an incredible 12 percent of these babies were carrying such mutations.
Now remember, that doesn't mean that all of these children are going to get the disease.
But it does mean that if you know the risk that the children have, then your pediatrician and your family can be on the lookout for vague symptoms that would otherwise be overlooked.
This isn't a small problem.
If this holds, that means in the United States there's over 400000 babies a year that will carry these risk mutations.
And worldwide, that's over 15 million babies a year that will carry these risk mutations.
It's kind of ironic, isn't it?
Because these are individually rare diseases, many of them you won't even have heard of, but together they are a massive medical problem.
Let me let you hear from a couple of the BabySeq mothers who've gone through this and hear what they have to say about the findings in their own children.
Now, this was baby Adam, who had an elastin gene mutation which can be associated with a narrowed aorta.
Finding out that your newborn has a heart problem of all things is absolutely terrifying, but knowing that we could be proactive gave us some peace of mind that we were doing everything we could do instead of being surprised down the road.
And in fact, after this mutation was found, a scan found that this baby's aorta was already mildly narrowed.
It can now be followed and treated if it gets worse.
Baby Cora, who's now almost nine years old, was found to have mutations suggestive of biotinidase deficiency, which is absolutely necessary for proper brain development.
So she takes a simple dietary supplement every day that's kept her brain safe.
We give her a daily vitamin to treat her enzyme deficiency.
We had to get creative at first but now it's part of our routine.
I'm just glad we discovered the conditions before there were any symptoms.
And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult-onset cancers.
Now in his case, the gene was BRCA2, or BRCA2, and nobody in the family knew that it was present.
When we found out, we traced it back to his mother, who was surprised, but who could then take action.
It turns out that I ultimately was carrying a mutation.
I had risk-reducing and ultimately, life-saving surgery and I believe it was the right decision so I could be present for my son.
So how can we bring this to every family that wants this insight?
Well, there is a newborn screening system around most of the world.
It looks for, in the United States, up to 75 treatable conditions, mostly metabolic conditions.
But that system is overburdened, under-resourced, and since 2008, it's only added nine new conditions.
And, as we've just said, there are several hundred treatable genetic conditions today, but it's going to be very hard for them to keep up.
Why are people so resistant?
Why aren't we demanding this?
Well, part of the reason is human psychology, right?
You bring home this perfect little baby and you don't really want to look for something that might be wrong, even if intellectually you know it might be treatable.
But we've got to get past that.
The other reason is privacy concerns.
And this is sort of ironic because privacy concerns are real.
Your DNA is a biometric.
It's kind of like a fingerprint.
There's certainly some law enforcement considerations.
But if somebody steals my genome, they really can't make much of it.
Whereas if they steal my electronic footprint or your electronic footprint, there's a lot more harm that can be done.
So I'm not saying we shouldn't be concerned about privacy.
In fact, privacy is protected when you look for genomic information in a medical context, just like it's protected for your psychiatric history and your HIV status and so forth.
It's also been confusing to have direct-to-consumer genetic testing.
Now, these companies, for the most part, were very honest about what they offered.
But they were not protected by these same legal protections as health care.
And typical direct-to-consumer companies use a technology called genotyping.
So they're looking for various markers in the genome, which is good for ancestry and traits, but not so good for mutations.
For that you really need the sequencing, every single letter of the DNA, And that's 5000 times more granular.
I also think there is a systematic or institutional resistance, right?
Because genomics is the tip of the spear for preventive care.
It's really the first in a series of things that we need to bring in order to preserve our health.
Multiomics proteomics transcriptomics, wearables all the exciting things we've heard about that will keep us well instead of simply treating us when we're sick.
Now, I'm happy to tell you that I've co-founded an international consortium on newborn sequencing.
It's grown to 27 groups around the world.
They're all doing this in different health care systems.
We get together, we compare notes, we share data.
It's really exciting.
I go to these annual meetings.
It's the most exciting meeting I go to every year.
We feel like we're inventing an entirely new field of medicine.
But if we really want to invent the future, we've got to do something different.
If we really want to invent the future, we've got to realize that a child's DNA doesn't change over time, but the science is changing all the time.
And so what that means is we should sequence your child's DNA and we should revisit and reanalyze that DNA over and over again to truly create the dream of genome-informed medicine, because each and every year there will be new insights and new treatments available.
Well, this isn't offered anywhere in the world.
But I'm happy to tell you that we are trying to build this.
We are building an AI-enhanced digital health platform so that you, your grandchildren, your children, your pediatricians, your health care centers, your employers, Your nations can do this at scale.
It's going to take a certain amount of courage to change the way we think about disease, to embrace the knowledge of risk in order to preserve our health, rather than waiting for us and our children to get sick and treating them there.
But if we can do this, if we can embrace this, we can save millions of lives and usher in an entirely new era of genome-inspired medicine.
Thank you.
That was Robert C. Green speaking at TED 2025.
If you're curious about TED's curation, find out more at TED.com slash curation guidelines.
And that's it for today.
TED Talks Daily is part of the TED Audio Collective.
This talk was fact-checked by the TED Research Team and produced and edited by our team Martha Estefanos, Oliver Friedman, Brian Green, Lucy Little and Tansika Sangmarnivong.
This episode was mixed by Christopher Fasey-Bogan.
Additional support from Emma Taubner and Daniela Balarezo.
I'm Elise Hugh.
I'll be back tomorrow with a fresh idea for your feed.
Thanks for listening.
This episode is brought to you by Capital One.
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