The opportunity to learn what’s in your genes is one appealing aspect of participating in the All of Us Research Program. When you join the program, you can share a blood or saliva sample. That sample is processed at our biobank. And it’s what All of Us uses to decode your DNA.
We can use DNA to tell you a little about where your family might have come from. We can also tell you about some traits you might have — like your taste for cilantro. We can even tell you a bit about how you might respond to certain medicines. Your personalized DNA results are just for you. We never share them with researchers.
But your DNA can reveal much more. The main reason we ask you to share your DNA is to advance science. Researchers can use genetic data from hundreds of thousands of All of Us participants — to make new discoveries about health and disease.
To do all of this, researchers need to sequence your genome. But what does that mean? And what do researchers do with these genome sequences?
The Human Genome — Our Story in DNA
The chemical makeup of DNA is represented by strings of letters. All those letters together make up your genome. If we think about a genome as a book, the way the DNA-letters are arranged determines the story.
Stories are broken into sections: chapters, paragraphs, sentences, words, and letters. The same goes for your genome. Breaking it into smaller chunks — often individual genes — is how researchers study it.
One way that’s done is through whole-genome sequencing. This technique lets researchers see the sequence of DNA letters within those genes, then read the genome — the book that is all about you.
The first human genome was sequenced more than 20 years ago. That was part of the Human Genome Project. The project took two decades and cost several billion dollars.
“But then technology changed. And prices changed. Everything changed,” says Anji Musick, Ph.D., M.P.H. Dr. Musick is the director of Scientific Data Strategy at All of Us.
Sequencing became faster and cheaper. That means more genomes can be studied. Right now, in fact, All of Us has more than 245,000 whole-genome sequences available for research, with more on the way — all thanks to participants like you! That much diverse genetic data will help us better understand health and disease.
The Clues to Health in (Not Just) Your DNA
Sometimes books and stories have mistakes in them. They’re called typos. They can make a story more confusing.
Here’s an example:
You’re reading a story where your favorite character is walking under cloudy skies. It starts to pain, so she opens her umbrella.
Wait — what? Pain? What does an umbrella do for “pain”?
Turns out the author meant “rain” — like raindrops. The “p,” which made the word “pain” instead, was a typo.
These kinds of errors exist in your genome “book.” Sometimes our bodies don’t notice an error, just like we don’t always notice a typo in a book. But some typos can change the whole story. That’s what gene variants are — “typos” in your genome.
Researchers can look at whole-genome sequences to find these variants. When they study DNA sequences from many people, they can see if a variant occurs in people with the same health conditions based on data from their electronic health records. That’s how researchers can link genes to health.
More is More
How is that done? Let’s go through an example.
Let’s say researchers see a group of people who all have the same gene variant. That information is not very helpful on its own.
Now, let’s add health records to the genetic data. Maybe researchers find that the people with the variant have diabetes and high blood sugar levels. That could mean that the gene variant makes it harder for your body to manage your blood sugar and raises your risk for diabetes.
This is why All of Us asks for so much data, and not just your DNA. Any piece of information you are willing to share can give us a richer understanding of health. And having all this information from lots of different people helps even more.
Every person has a unique story. The more stories we “read,” the better we understand the themes we all share. “That gets right at the heart of what precision medicine aims to do,” says Dr. Musick.
Thank you for sharing your story, however much of it you’ve shared. These stories are helping us understand what all of us need for better health.