Precision Medicine: Custom Treatment From Your Genes

We were terrified because we saw she was continuing to deteriorate, that the treatment we were doing wasn't working. And in the back of our heads, it was like, we're not on the right track.

A child in distress, no answers, no hope, until a doctor's hunch using a new groundbreaking approach, precision medicine, shines a light on how to save her life, illuminating hope for many others.

[MUSIC PLAYING]

How will precision medicine work for the individual?

We're looking at a person, their genetic makeup, the environmental triggers IN their life, and their lifestyle. And we're looking to that to focus therapy. Traditionally, when we think of a health issue, we think about treating an illness. With precision medicine, we are really focused on treating the individual.

You blow me a kiss?

And for Cara Green, finding a more focused therapy through precision medicine was a matter of life and death. Cara was born a seemingly healthy baby.

She was a really happy baby. She was very lively.

Everything was spot on. Everything was even early in terms of her physical abilities.

Yay!

Yay!

But shortly after Cara turned 15 months old, her parents, Kristen and Clayton started to notice some alarming changes.

Cara started having trouble just physically. She first started just being unsteady with walking. Slowly, over time, we noticed that her arms became weak.

[MUTTERING]

Did you drop it?

The next thing we noticed was she began to fall. But when she would fall, she would fall and hit her head.

She got to the point where she was so unsteady walking and fell so often that she actually stopped walking.

ROBIN ROBERTS: Frightened and helpless, the Greens sought out the advice of many doctors. But nobody had an answer.

[BABY TALKING]

Well, it was terrible. I mean, watching her every day basically get worse and worse was awful. So it was really, really hard. For so many months, all she could do was sit and have me read to her. It was really hard because those are sweet moments, but they were terrible moments, too.

Terrible for the doctors, as well, who were working so hard to try and figure out what was wrong.

DR. DAVID GOLDSTEIN: The clinical team had absolutely no idea what she had. But they knew it was very, very, very serious. It was very progressive. And they feared that she wouldn't live very long.

We were so convinced that we were going to lose her and that it was probably going to be pretty soon.

There was no consensus. Some doctors thought it could be an autoimmune disorder or even a brain tumor. There were discussions of treating the child with chemotherapy.

No matter how much we did, no matter how hard we tried to help her, there wasn't anything that we could do to stop her from getting worse.

The genetics clinic is frequently one of the last stops in the diagnostic odyssey.

Genetic sequencing, which is a cornerstone of precision medicine, has just recently become promising for patients like Cara.

In 2001, we thought it was a remarkable accomplishment to sequence an entire human genome and do that once. Today, we're doing this thousands of times a day around the world. These lead to not just new diagnoses, but also can lead to new therapies that might not have been thought of previously.

DR. DAVID GOLDSTEIN: The last few years have, in fact, stunned us all. The direct sequencing costs to get a single human genome were about a billion dollars. Now, we can sequence an individual for $1,000.

Dr. David Goldstein was doing his own groundbreaking work with gene sequencing when he heard about Cara's case. He was ready to take on the challenge.

Dr. Goldstein pretty much said, we're not leaving until we figure out what's going on with this child.

DR. DAVID GOLDSTEIN: When a child comes into the clinic and they have something seriously wrong, we can take a blood sample. We can almost immediately generate that individual's complete genome. And we can look through it and try to find the cause of disease.

They collected blood from me and my husband and from Cara and sent it off to their lab.

What we found were two mutations that were really just as-clear-as-day responsible for her condition. So when we saw those mutations, we knew for sure that Cara didn't have an autoimmune disease.

What she had was a rare genetic disorder called Brown-Vialetto-Van Laere Syndrome. The discovery was a milestone for Dr. Goldstein.

That doesn't always happen. Sometimes, when you sequence a patient, you see something that looks suspicious, but you can't be sure. In Cara's case, the mutations just stood up and said hello, here we are. We're responsible.

The sequencing showed that both of Cara's parents carried a gene mutation that affected Cara's ability to produce a protein, which resulted in her having a severe Vitamin B2 deficiency.

In that moment where we got the diagnosis, I think I was just in shock.

I just was completely-- I was speechless.

After we received Cara's diagnosis, they did give us a treatment plan for her. And it was just high dose Vitamin B2, which is a benign treatment.

ROBIN ROBERTS: An oral supplement that would help cure Cara of her symptoms.

We started to see progress after we started in treatment very quickly. Cara's doing phenomenal today. She is now able to play with her toys. She can feed herself. She's actually learning letters.

What's that say?

What does that say?

Bye!

As the weeks went on, she just kept getting a little bit better and a little bit better.

The joy Cara's family felt was shared by Dr. Goldstein and his team.

When you see the result of the work in a situation like Cara, where you really have helped a little girl and a lovely little girl--

I did it.

--it's hard not to be emotionally drawn into it.

Cara's story provides a window into the potential of precision medicine.

Before too long, everything that we do in terms of caring for patients will be influenced by knowledge of their genomic make-up.

Our goal should be to prevent every preventable disease and treat every treatable disease. And this knowledge is going to give us the opportunity to do that.

Without a doubt, Cara's story exemplifies that goal. And today, Cara is thriving, as is her family. Cara now has a little sister and a future.

Dr. Goldstein and his team, we credit him for saving Cara's life. She's getting to be a kid and make up for lost time.

Bye.

Oh!

Woo!