Name: The Life-Saving Secrets in Your Baby’s DNA | Robert C. Green | TED
Uploaded: 2025-10-17T15:06:21.000Z
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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.

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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, 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

This is particularly tragic because there are so many treatable genetic conditions today, and

they're going to be even more with gene editing, cell and gene therapies.

In fact, it's been suggested that over 90% 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, Alan Beggs, Amy McGuire, Heidi Rehm and Ingrid Holm.

And together we launched the Baby seq, 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.

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, 10 years exquisitely studying the medical, behavioral and economic impact of newborn genetic sequencing.

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 1,000 families, we found mutations in those genes in about 4% of these babies.

And if you expanded that gene list to be, let's say, 5,000 genes long, and

that includes conditions that aren't treatable yet conditions that maybe attack you in adulthood.

We found an incredible 12% 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.

If this holds, that means in the United states, there's over 400,000 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 baby seek 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.

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, a partial 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

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.

We're trying to work with these programs to bring genomics into them, but

it's going to be very hard for them to, to keep up.

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.

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 healthcare.

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

For that you really need the sequencing every single letter of the DNA and that's 5,000 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.

Multi omics, 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 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

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.

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The Life-Saving Secrets in Your Baby’s DNA | Robert C. Green | TED

ultimately

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