PHOTO: SHUTTERSTOCK

Rachel Cannon had a deadline for herself: if she didn’t have children by the time she was 35, she wasn’t going to have any.

Two years ago, Cannon — a librarian in the East End — found herself up against her self-imposed deadline. She decided to join All of Us, a $1.5 billion national genetic research study directed by the National Institutes of Health, as a way to pass along a piece of herself. She found additional meaning in participating because her mother died of brain cancer when Cannon was 21. “My mom, [her] body had died, but now her cells through me are also going to continue on.”

Cannon is one of more than 780,000 participants — 52,400 of whom are in Pennsylvania — in the largest research study of its kind. Funded by Congress through 2026, the program aims to recruit 1 million participants and use the resulting enormous amount of health data to advance individualized health care.

“What it seeks to do is try to understand what makes people sick or healthy,” says Mylynda Massart, co-investigator of the All of Us Pennsylvania and a family medicine physician at UPMC.

How It Works

Being part of All of Us is relatively simple. Participants give blood and urine samples, have measurements and vitals taken (height, weight and blood pressure) and answer surveys about their behavioral and emotional health. They can also give access to their electronic health records, which — as with other data — have identifying information removed to protect participants’ privacy.

For their effort, participants receive compensation of $25 as well as access to their data, which includes ancestry information, genetic traits, their predisposition to certain illnesses and their ability to metabolize certain drugs.

Robert Morlino, the communications lead for All of Us PA, says, “Some people will go through their entire lives struggling with diagnoses or with treatments and not know why. A lot of those are because of genetic phenotypes — the way your genes express themselves in your body.”

As a physician, Massart sees a wealth of patients who are seeking answers that the medical community does not yet have. “When we don’t have the answers in medicine, [doctors] are often not really great with that. We need better answers. We need better care. And we need those answers to apply to everyone.”

Broadening Diversity

The historical problem with medical studies is that they disproportionately excluded ethnic minorities, so most of the participants were older white men. “Those were people who were exposed to those sorts of opportunities,” Morlino says.

“The program is trying to enroll a cohort that is more representative of the country’s present and future population.”

When Massart’s own doctor wanted her to try a medication to mitigate her risk of a heart attack — which her dad died from — she pointed out the lack of data regarding the treatment’s effectiveness for women. “Then, as a clinician,” she says, “I take care of a large African American population. How do I help them make decisions every day and weigh the risks and benefits if the data doesn’t reflect [them]?”

The diversity ethos of All of Us reflects Massart’s values. “This should be the standard going forward.”

To reach participants across demographics, the NIH selected sites across the country. They chose the Clinical and Translational Science Institute at the University of Pittsburgh to represent Pennsylvania. The site enrolled the study’s first participant in 2018 after the national recruitment phase was launched.

There’s a “real intentionality in the grassroots engagement,” Massart says. This includes specific teams for relationships with indigenous communities, as well as teams dedicated to reaching the LGBTQIA+ population. They’ve “invested true dollars behind what they believe in to really get to all communities and all populations. And that, too, is setting the bar.”

For communities — such as African Americans — who have been harmed, directly and indirectly, by medical experimentation, engagement also means “you need to be able to talk about science; you need to address fears and concerns and history.”

Engagement across the board also involves going in person to communities and speaking about the project. Massart says, “They are going to any event that’s happening and setting up a table and just having conversations.”

Why Participate?

Jacquelyn Nixon, of Bridgeville, joined All of Us in 2017 (as part of an early recruitment effort) at age 68 after finding out about the study from a booth at an American Lung Association event.

Nixon, an advocate for education and awareness regarding radon gas and its lung cancer effects, thought back to when she was diagnosed with cancer two years before and all of the questionnaires she had to answer. The forms and doctors asked, “Did you smoke? Did anybody in your family smoke? What kind of cancer did your mother have?” (No; no; colon cancer at age 90, and her mother lived another nine years.) Neither she nor her sister knew of a family history of lung cancer.

Nixon had been diagnosed by chance. She went to the doctor for what she thought was muscle pain in her back, which turned out to be shingles. Since it had been a couple of years since Nixon had been in the office — she rarely got sick and otherwise stayed fit — her PCP asked other questions.

At the end of the appointment, Nixon mentioned that, while she wasn’t having trouble breathing, she had been having difficulty singing notes that had never given her trouble before. “I had my hand on the door, and we were both gonna blow it off.” Then her doctor suggested getting a chest X-ray just in case since insurance would cover it.

To sign up for All of Us, visit joinallofus.org or call 844-842-2855.

Nixon learned she had stage 1A lung cancer, for which she would need surgery, but no additional treatments.

She says she joined All of Us because “once you’ve had lung cancer, you never stop wondering how I got this.” Nixon later learned that her lung cancer was likely the result of exposure to radon, an odorless, invisible, radioactive gas that is naturally released from rocks, soil and water. It’s often found in homes. The study, though, “is adding another perspective, another level of understanding to my health,” she says.

She also wants to be able to leave that understanding to her son and other family members. “I can’t pass you any money,” she says, “but I can give you this.”

For Cannon, the librarian, joining All of Us was an easy decision. She and her brother began participating in research studies with their mother’s encouragement when she was 5. “She really believed in helping people,” Cannon says. She has also seen that belief play out in people she’s interacted with regarding the study. “There’s a lot of care.”

Despite years of participating in studies, Cannon feared needles. For the blood draw, “I had the nicest phlebotomist I’d ever met,” she says. “She gave me an ice pack and said, ‘Just put this on your neck.’ It was the first time someone distracted me enough that it was fine.”

JACQUELYN NIXON, LEFT, AND RACHEL CANNON ARE TWO OF MORE THAN 780,000 PARTICIPANTS IN ALL OF US, A $1.5 BILLION NATIONAL GENETIC RESEARCH STUDY AIMING TO ADVANCE INDIVIDUALIZED HEALTH CARE. | PHOTO BY LAURA PETRILLA

Where the Data Goes

Study data is made available at three different tiers. The first, which includes generalized demographic information, is public and available to everyone. The second tier includes individual-level data available to approved researchers. The third tier contains sensitive genomic data and requires more extensive credentials.

At that third level, all research work has to be done in what’s called a data playground. Researchers must include plain-language summaries and use of a virtual notebook so participants know who is studying their data and to what end. “Anything happening is fully transparent,” Massart says.

If researchers doing ancillary studies need additional data — for instance, with an MRI scan — they can request that the NIH send letters to relevant people asking if they’d like to continue participating. Any data derived from these studies would then be added to the database for future use.

In addition to diversifying study participants, All of Us also seeks to diversify its pool of researchers.

“We have a real paucity of diverse researchers that are being funded and educated nationally,” says Massart.

Data availability is one way of opening the field for opportunities. Both the NIH and the National Library of Medicine, Massart says, are also investing in training diverse researchers in the field of genetics.

Giving and Getting Back

Another hallmark of All of Us is the return of data to the participant. Historically, study participants were not told if researchers found anything concerning their health. “This is a brand-new frontier in research,” says Massart. Sharing this information is the start of a new ethical standard that also helps researchers “really see participants as truly partners in the research process.”

Returning data also helps solidify relationships with participating communities. “That is very, very transformational,” she says.

If a participant in All of Us has any results that are deemed medically actionable by the American College of Medical Genetics — such as the BRCA mutation risk for breast cancer — they will receive that information “in a supported manner through genetic counselors. So it’s not like you just get a message in your inbox,” Massart says. Genetic counselors have referral lists to connect participants to relevant information and specialists.

Among ancestry data she’s received, Nixon learned her heritage is approximately 77% West African, 12% Central/East African and 11% North/Central Europe. “That was really cool” to learn, she says. Among her genetic traits is an enjoyment of sour tastes.

Cannon already knew her ancestry data would show, “My family’s whiter than white bread.” She’s also someone who likes cilantro and is unlikely to taste bitter compounds.

Neither Nixon nor Cannon has yet received their report related to hereditary disease risk and potential reactions to medications. Cannon expects that she’ll find information about heart disease — which her father has — as well as cancer.

As for people like her patients who are also seeking information, Massart says, “I would love to see a world where we can get to a place where every time the doctor doesn’t know the answer, they can say, ‘We actually don’t know the answer to this yet in science, but if you participate in this research study, you might help find the answer.’”

Amy Whipple is a part-time writer, part-time writing instructor and full-time awesome. In addition to Pittsburgh Magazine, her work can be found in PublicSource, PINJ and The Imprint.