By Steve Spencer
In his 2015 State of the Union, President Obama announced the Precision Medicine Initiative with the goal of one day being able to tailor medical treatments to the individual based their genetic and health data. From that vision, the National Institutes of Health (NIH) created the All of Us Research Program. In order to accelerate medical research, the program aimed to build a database of health information on 1,000,000 people, and as of August has exceeded that with over 1,277,000 participants and counting.
People who join the program start by filling out a questionnaire that includes their name, where they live, along with basic questions about their health, lifestyle, and family medical history. All of Us also asks for their medical records. Then they visit a participating clinic – UAB is partnering with All of Us in Alabama. There, nurses will take their weight, and measure their height, hips, and waist, as well as their blood pressure and heart rate. They will also give blood samples which All of Us will use to sequence their genome.
All the information collected is secure. Participants in the database are de-identified so that no name is connected to an individual’s data. The program has strict policies to prevent misuse of data, and has Certificates of Confidentiality from the U.S. government which will help fight legal demands to give out any potentially identifying information.
“The participants get some information on their ancestry, and reports on physical traits they’re likely to have based on their genome,” said Roger Smalligan, MD, MPH, who is Regional Dean at the UAB School of Medicine Huntsville and the site PI in Huntsville. “We run the entire list of actionable genes on every participant. There are currently about 60 different genes that are associated with risk for specific conditions. If someone has one of these genes, we will let them know, and they can decide whether or not to receive this information. We have a genetics counselor who people can talk to if they’d like help with this.”
Of course, simply having data doesn’t mean anything. It’s what you do with it that counts, and researchers are already starting to make use of it. “With this wealth of information, the potential studies are only limited to researchers’ imagination,” Smalligan said. “One example is with the G6PD deficiency. This results from mutations in the G6PD gene, and can lead to severe anemia, an enlarged spleen, and jaundice. We had always thought that a single defect was the main cause of this, but researchers using the All of Us database found 118 new variations that are also important risk factors for the disease.
“Some researchers are using this information for neuro degenerative disease like Dementia. We know a lot about these diseases already, but so far, the available medications haven’t been as impactful as we would like. If we can discover genetic precursors for dementia, we could attack it earlier. That would be a big help.”
It’s important to note that All of Us has an ongoing relationship with study participants, following them over a 10-year period, and the program is continually coming up with ideas to source more information. For example, All of Us recently offered Fitbits to a number of participants. Program administrators mailed them the Fitbits, and taught them how to use it. Fitbits can gather information on activity, sleep, heartrate, and stress, and all that data is synched to the entire database.
Likewise, the NIH and All of Us recently rolled out a joint project to study the impact of diet on health. The program sends specific meals to the people who sign up, along with a schedule that includes breakfast, lunch and dinner. Program nurses will draw blood so researchers can look for correlations. With a level of detail that can include a person’s lifestyle, medical history, their genome, along with all the information obtained from a Fitbit, now including diet, investigators can drill down to a granular level of research.
“When you feed all this data into an AI system, you’ll probably discover a number of unexpected correlations, and new findings,” Smalligan said. “And the potential studies that researchers can design with this data are unlimited. It’s really whatever a researcher can dream up.”
This has the potential to bring enormous value to the healthcare system. Currently, two patients with the same condition may respond differently to the same drug so physicians often have to try several prescriptions before finding the right one. Findings from the All of Us data will help healthcare providers prescribe the most effective drug at the outset, resulting in better health for the patient and lowering costs for the system.
For Alabamans who want to participate in All of Us, go to www.joinallofus.org/southern where you’ll find information on the program, and a link to sign up.
