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One benefit of participating in All of Us is that you can get information about your DNA, if you want it. All of Us can look at genes that can raise a person’s risk of certain hereditary diseases. We also can look at genes involved in how the body might react to certain medicines.
The process of preparing DNA results takes the effort of a lot of people. Here’s a look behind the scenes at the work performed by All of Us to share health-related information with participants.
“Frankly, nothing at this scale has really been done before. There’s a lot of moving parts to make it all work correctly and safely,” said Joshua Smith, M.S. Mr. Smith is the director of bioinformatics at the Northwest Genomics Center at the University of Washington in Seattle. The lab in Washington is one of three All of Us genome centers.
First, we extract DNA from the blood or saliva samples participants provide. Then the genome centers analyze the DNA. That allows us to share results with participants.
If you said “Yes” to the Consent to get DNA Results, we’ll contact you when we’re ready to produce results for you. We’ll ask if you want to get a Hereditary Disease Risk report and a Medicine and Your DNA report. You can get both, just one of them, or neither.
If you tell us you want any of these results, we’ll start the process to analyze your DNA. We expect it will take several weeks or months to analyze your DNA and prepare a personalized report.
Experts at the All of Us genome centers will look for small differences called variants in specific genes. They will look for variants that increase a person’s risk of certain diseases, like cancer or heart disease. The variants are rare. Not all participants will have one. If they find one of these variants, they will confirm it by analyzing the DNA a second time.
“To report a variant, we need to actually detect it twice. To be very sure that we're recording accurate data, we'll use a separate technology. And we'll make sure that we still see this genetic change,” said Eric Venner, Ph.D. Dr. Venner is the director of clinical informatics and an associate professor at the Human Genome Sequencing Center at Baylor College of Medicine.
Some variants are well known. But because All of Us is so diverse, we’ll find many variants that will be new to scientists. These will need additional research.
“Let’s take the breast cancer gene, BRCA1,” said Serra Kim, Ph.D., head of Clinical Genome Interpretation at Color in Burlingame, California. (Color is associated with another All of Us genome center.) “It’s a well-documented gene that predisposes an individual to developing breast and ovarian cancer. We evaluate every DNA change found in the gene. And then we determine whether a particular variant in this gene increases your risk for cancer developing at some point in your life compared to people who don’t have the variant.”
Altogether, our genome center staff will evaluate hundreds of thousands of variants. Most of this analysis is done by computer. But when an uncommon variant pops up, it might require extra study. Our scientists will review these gene variants by hand.
“We have expert clinical genetics scientists and shared software across all three labs. It's this combination that allows us to analyze the DNA from so many people and be confident in our findings,” said Cynthia Neben, Ph.D., head of research program management at Color.
After all, the purpose of this work behind the scenes is to make sure we do our best to give you accurate information.
As much as we want all of you to have the exact same experience, we know that each of you and your data are unique. That diversity is what makes All of Us special.
More than 508,000 participants who have completed the consent process.
More than 349,000 participants fully enrolled.*
More than 2,000 research projects are using All of Us data.
*Fully enrolled participants are those who have shared their health information with All of Us, including giving blood and urine or saliva samples.
One of the most long-awaited milestones from the All of Us Research Program is just around the corner. Before the end of this year, All of Us will start sharing health-related DNA results with a small number of participants. Everyone else will soon follow.
You may have learned a bit about yourself already if you received genetic and ancestry trait results from All of Us. We expect that some participants will want to know more. Others may not. As always, it’s your choice how much you want to share and how much you want to know. We want you to be prepared so you can make the best decision for yourself.
Deciding whether to get your DNA results is an important choice. We expect most people to learn that their gene variants, or differences in DNA, are not ones that increase their risk for disease. Other participants might learn that they have variants in genes that could increase their risk for certain diseases. In that situation, we will provide them with support to understand their results and take next steps.
In this article, we’ll provide information about how we’ll share these results with you. We hope it will help you decide if you want your results once we start offering them.
How Will This Work?
In the next few months, All of Us will start checking in with eligible participants to see if you want health-related DNA results. Right now, that includes the Hereditary Disease Risk report and the Medicine and Your DNA report. You can choose to receive one, both, or neither of these reports.
If you say yes to getting your results, then we will start analyzing your DNA to create your report. Because we have so many participants eligible for these results, it may take several months for you to receive your invitation. You can read about what goes on behind-the-scenes to get these results to you in this month’s feature story.
Hereditary Disease Risk Report
This report will look at 59 genes associated with inherited diseases, such as some types of cancer and heart conditions. These genes are passed down from parents to their biological children.
The report will tell you whether you have gene variants that might put you at higher risk for certain diseases. All of Us chose these 59 genes because the conditions associated with them are “medically actionable.” That means there are certain steps you and your health care provider can take if you learn you are at increased risk. Possible steps include regular screening, a certain diet, or medicines.
But remember, All of Us DNA results are research results. Your results should be confirmed with a clinical DNA test before you make any changes to your health care. Read on to learn about how we offer a clinical DNA testing option to participants with an increased risk.
It's also important to know that an increased risk in the genes we check does not mean you will get a disease in your lifetime. And if you don’t have those variants, you may still get a disease. Many factors influence whether you get sick or stay healthy. That includes genetic variants we don’t know about yet, as well as environmental and social factors.
Medicine and Your DNA
We also will offer our participants a Medicine and Your DNA report. Like the name suggests, this report looks at genetic variants that affect how the body processes medicines. For example, the CYP2C19 gene makes a liver enzyme that helps to process a variety of medicines. Small differences in the gene can make the enzyme work better or worse when processing those drugs.
For instance, certain variants of CYP2C19 affect a common blood thinner called Plavix®. In people who have those variants, Plavix doesn’t work as well, so it’s not as effective as it can be in preventing blood clots. If people with certain CYP2C19 variants have a heart attack or stroke, their health care providers may prescribe a different blood thinner drug.
The Medicine and Your DNA report will cover this gene and six others. It also includes more than 50 medicines that can be affected by differences in these seven genes.
Helping You Understand
At All of Us, we don’t want to settle with just giving you a health-related DNA result. How our genes work is complicated. We want to be sure you fully understand your results and what they mean for you.
One way we help do that is by connecting you with a genetic counselor free-of-charge. The genetic counselor can help explain your results and what they may mean for you and your family. All of Us does not provide health care. But we hope these health-related results will provide you with information useful to you.
Another way we help is by offering participants who might have increased risk a no-cost way to get a clinical DNA test. This test will not be part of the All of Us Research Program. You will work directly with Color, an All of Us partner, to get that test. The results from that clinical DNA test will help you and your doctor decide if you should make changes to your health care.
You may or may not want to receive these results. It is always up to you to decide if you want the report for both, one, or neither result. Be on the lookout for more updates next month.
If you are one of the 500,000 people who have joined All of Us, you may have shared your electronic health records with us. You may have taken surveys. And you may have given blood or saliva samples. And now, more than 2,600 researchers are hard at work studying all that data.
Research on All of Us data is just getting started. But we’re already seeing some studies that show the impact your data can make. Here are a few recent findings.
Giving drugs a second life
Finding new drug treatments takes time, money, and resources. One way to make the process go faster is by finding new uses for existing drugs. This is called drug repurposing. It’s a method that uses drugs approved for one condition to treat another.
Researchers from Vanderbilt University explored whether data from All of Us participant health records could help in repurposing research. First the team found a handful of old drugs with the potential to treat high blood pressure and high cholesterol. The researchers used a DNA and health records database at Vanderbilt University for this. Many of the candidate drugs they found had already been identified. Then they also confirmed five of the candidate drugs using the All of Us database. That confirmation took less than a week, showing that All of Us might speed up drug repurposing research.
Faster research might help bring more treatment options to patients. And results from studies like this may help find treatments that work for more people. That’s because our data includes health records from people of all backgrounds, races, and ethnicities.
Learning about heart disease risk
Researchers are also using health records to learn who is most at risk of having certain health problems. For example, researchers at Yale University looked at the risk of coronary artery disease and stroke.
Coronary artery disease is the most common heart disease in the United States. It happens when the blood vessels around the heart can’t supply the heart with enough blood or oxygen. Strokes occur when blood vessels in the brain burst or are blocked.
The researchers found that Black participants were more likely than White participants to have coronary artery disease or a stroke. They also found other factors that raised the risk:
· Being 75 or older
· Having a disability
· Making less than $35,000 per year
Not every person who fits these descriptions will have heart or blood vessel problems. But knowing about these factors can help health care providers identify who is most at risk and work more closely with them to prevent these diseases.
This is just the beginning!
Right now, most studies with All of Us data use information from surveys and EHRs. But new research is happening every day. In March, we released our first batch of genomic data that researchers can use. We look forward to sharing the discoveries that researchers make with that data. So stay tuned! We have so much more to learn together.
Voices of All of Us: Edgar Gil Rico
Edgar Gil Rico knows how newly arrived Hispanic immigrants might be too busy working to focus on their health. He left his home in Bogota, Colombia for Washington, D.C., at age 26 and did just that. But 15 years ago, he joined the National Alliance for Hispanic Health to help those who move here now. Today, Edgar co-leads Todos Juntos: All of Us, the program’s effort to engage Hispanics across the nation. Read Edgar’s story in Voices of All of Us. Learn more about his personal passion to improve health for the Hispanic community.
Voices of All of Us: Stephen Mikita
As a young child, Stephen Mikita was told he had could die any day. At age 65, he is one of the oldest people in the United States with spinal muscular atrophy. He sits on the All of Us Steering Committee, where he was one of the first participant representatives. Now he leads a participant advisory board. In these ways, he continues his work advocating for underrepresented communities. Read more about Steve’s journey and why he feels so optimistic about All of Us.
Adding You to the Researcher Workbench’s Latest Data Release
The Researcher Workbench is where researchers conduct studies with All of Us data. It turned two years old in May! Soon after, All of Us added a new set of data to the workbench. This set includes health data from nearly 20,000 participants who have been infected with SARS-CoV-2. It also includes more than 57,600 responses to the social determinants of health survey. Researchers can use this data to study how to prevent COVID-19 in the future. It might help them gain insights into how people’s experiences in life affect their health.
Learn more about the Researcher Workbench.
The All of Us Journey Exhibit
All of Us hits the road! The All of Us Journey bus helps visitors from different communities learn about precision medicine research. Visitors can see the power of participation in health research firsthand. You can even sign up to be an All of Us participant if you choose to. You can find the Journey in the following cities:
Come meet us in your city.