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All of Us Research Program

All of Us: Release of Nearly 100,000 Whole Genome Sequences Sets Stage for New Discoveries

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Diverse group of cartoon people with associated DNA

Nearly four years ago, NIH opened national enrollment for the All of Us Research Program. This historic program is building a vital research community within the United States of at least 1 million participant partners from all backgrounds. Its unifying goal is to advance precision medicine, an emerging form of health care tailored specifically to the individual, not the average patient as is now often the case. As part of this historic effort, many participants have offered DNA samples for whole genome sequencing, which provides information about almost all of an individual’s genetic makeup.

Earlier this month, the All of Us Research Program hit an important milestone. We released the first set of nearly 100,000 whole genome sequences from our participant partners. The sequences are stored in the All of Us Researcher Workbench, a powerful, cloud-based analytics platform that makes these data broadly accessible to registered researchers.

The All of Us Research Program and its many participant partners are leading the way toward more equitable representation in medical research. About half of this new genomic information comes from people who self-identify with a racial or ethnic minority group. That’s extremely important because, until now, over 90 percent of participants in large genomic studies were of European descent. This lack of diversity has had huge impacts—deepening health disparities and hindering scientific discovery from fully benefiting everyone.

The Researcher Workbench also contains information from many of the participants’ electronic health records, Fitbit devices, and survey responses. Another neat feature is that the platform links to data from the U.S. Census Bureau’s American Community Survey to provide more details about the communities where participants live.

This unique and comprehensive combination of data will be key in transforming our understanding of health and disease. For example, given the vast amount of data and diversity in the Researcher Workbench, new diseases are undoubtedly waiting to be uncovered and defined. Many new genetic variants are also waiting to be identified that may better predict disease risk and response to treatment.

To speed up the discovery process, these data are being made available, both widely and wisely. To protect participants’ privacy, the program has removed all direct identifiers from the data and upholds strict requirements for researchers seeking access. Already, more than 1,500 scientists across the United States have gained access to the Researcher Workbench through their institutions after completing training and agreeing to the program’s strict rules for responsible use. Some of these researchers are already making discoveries that promote precision medicine, such as finding ways to predict how to best to prevent vision loss in patients with glaucoma.

Beyond making genomic data available for research, All of Us participants have the opportunity to receive their personal DNA results, at no cost to them. So far, the program has offered genetic ancestry and trait results to more than 100,000 participants. Plans are underway to begin sharing health-related DNA results on hereditary disease risk and medication-gene interactions later this year.

This first release of genomic data is a huge milestone for the program and for health research more broadly, but it’s also just the start. The program’s genome centers continue to generate the genomic data and process about 5,000 additional participant DNA samples every week.

The ultimate goal is to gather health data from at least 1 million or more people living in the United States, and there’s plenty of time to join the effort. Whether you would like to contribute your own DNA and health information, engage in research, or support the All of Us Research Program as a partner, it’s easy to get involved. By taking part in this historic program, you can help to build a better and more equitable future for health research and precision medicine.

Note: Joshua Denny, M.D., M.S., is the Chief Executive Officer of NIH’s All of Us Research Program.

Links:

All of Us Research Program (NIH)

All of Us Research Hub

Join All of Us (NIH)


Celebrating NIH Science, Blogs, and Blog Readers!

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Happy holidays to one and all! As you may have heard, this is my last holiday season as the Director of the National Institutes of Health (NIH)—a post that I’ve held for the past 12 years and four months under three U.S. Presidents. And, wow, it really does seem like only yesterday that I started this blog!

At the blog’s outset, I said my goal was to “highlight new discoveries in biology and medicine that I think are game changers, noteworthy, or just plain cool.” More than 1,100 posts, 10 million unique visitors, and 13.7 million views later, I hope you’ll agree that goal has been achieved. I’ve also found blogging to be a whole lot of fun, as well as a great way to expand my own horizons and share a little of what I’ve learned about biomedical advances with people all across the nation and around the world.

So, as I sign off as NIH Director and return to my lab at NIH’s National Human Genome Research Institute (NHGRI), I want to thank everyone who’s ever visited this Blog—from high school students to people with health concerns, from biomedical researchers to policymakers. I hope that the evidence-based information that I’ve provided has helped and informed my readers in some small way.

In this my final post, I’m sharing a short video (see above) that highlights just a few of the blog’s many spectacular images, many of them produced by NIH-funded scientists during the course of their research. In the video, you’ll see a somewhat quirky collection of entries, but hopefully you will sense my enthusiasm for the potential of biomedical research to fight human disease and improve human health—from innovative immunotherapies for treating cancer to the gift of mRNA vaccines to combat a pandemic.

Over the years, I’ve blogged about many of the bold, new frontiers of biomedicine that are now being explored by research teams supported by NIH. Who would have imagined that, within the span of a dozen years, precision medicine would go from being an interesting idea to a driving force behind the largest-ever NIH cohort seeking to individualize the prevention and treatment of common disease? Or that today we’d be deep into investigations of precisely how the human brain works, as well as how human health may benefit from some of the trillions of microbes that call our bodies home?

My posts also delved into some of the amazing technological advances that are enabling breakthroughs across a wide range of scientific fields. These innovative technologies include powerful new ways of mapping the atomic structures of proteins, editing genetic material, and designing improved gene therapies.

So, what’s next for NIH? Let me assure you that NIH is in very steady hands as it heads into a bright horizon brimming with exceptional opportunities for biomedical research. Like you, I look forward to discoveries that will lead us even closer to the life-saving answers that we all want and need.

While we wait for the President to identify a new NIH director, Lawrence Tabak, who has been NIH’s Principal Deputy Director and my right arm for the last decade, will serve as Acting NIH Director. So, keep an eye out for his first post in early January!

As for me, I’ll probably take a little time to catch up on some much-needed sleep, do some reading and writing, and hopefully get out for a few more rides on my Harley with my wife Diane. But there’s plenty of work to do in my lab, where the focus is on type 2 diabetes and a rare disease of premature aging called Hutchinson-Gilford Progeria Syndrome. I’m excited to pursue those research opportunities and see where they lead.

In closing, I’d like to extend my sincere thanks to each of you for your interest in hearing from the NIH Director—and supporting NIH research—over the past 12 years. It’s been an incredible honor to serve you at the helm of this great agency that’s often called the National Institutes of Hope. And now, for one last time, Diane and I take great pleasure in sending you and your loved ones our most heartfelt wishes for Happy Holidays and a Healthy New Year!


Preventing Glaucoma Vision Loss with ‘Big Data’

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Credit: University of California San Diego

Each morning, more than 2 million Americans start their rise-and-shine routine by remembering to take their eye drops. The drops treat their open-angle glaucoma, the most-common form of the disease, caused by obstructed drainage of fluid where the eye’s cornea and iris meet. The slow drainage increases fluid pressure at the front of the eye. Meanwhile, at the back of the eye, fluid pushes on the optic nerve, causing its bundled fibers to fray and leading to gradual loss of side vision.

For many, the eye drops help to lower intraocular pressure and prevent vision loss. But for others, the drops aren’t sufficient and their intraocular pressure remains high. Such people will need next-level care, possibly including eye surgery, to reopen the clogged drainage ducts and slow this disease that disproportionately affects older adults and African Americans over age 40.

Sally Baxter
Credit: University of California San Diego

Sally Baxter, a physician-scientist with expertise in ophthalmology at the University of California, San Diego (UCSD), wants to learn how to predict who is at greatest risk for serious vision loss from open-angle and other forms of glaucoma. That way, they can receive more aggressive early care to protect their vision from this second-leading cause of blindness in the U.S..

To pursue this challenging research goal, Baxter has received a 2020 NIH Director’s Early Independence Award. Her research will build on the clinical observation that people with glaucoma frequently battle other chronic health problems, such as high blood pressure, diabetes, and heart disease. To learn more about how these and other chronic health conditions might influence glaucoma outcomes, Baxter has begun mining a rich source of data: electronic health records (EHRs).

In an earlier study of patients at UCSD, Baxter showed that EHR data helped to predict which people would need glaucoma surgery within the next six months [1]. The finding suggested that the EHR, especially information on a patient’s blood pressure and medications, could predict the risk for worsening glaucoma.

In her NIH-supported work, she’s already extended this earlier “Big Data” finding by analyzing data from more than 1,200 people with glaucoma who participate in NIH’s All of Us Research Program [2]. With consent from the participants, Baxter used their EHRs to train a computer to find telltale patterns within the data and then predict with 80 to 99 percent accuracy who would later require eye surgery.

The findings confirm that machine learning approaches and EHR data can indeed help in managing people with glaucoma. That’s true even when the EHR data don’t contain any information specific to a person’s eye health.

In fact, the work of Baxter and other groups have pointed to an especially important role for blood pressure in shaping glaucoma outcomes. Hoping to explore this lead further with the support of her Early Independence Award, Baxter also will enroll patients in a study to test whether blood-pressure monitoring smart watches can add important predictive information on glaucoma progression. By combining round-the-clock blood pressure data with EHR data, she hopes to predict glaucoma progression with even greater precision. She’s also exploring innovative ways to track whether people with glaucoma use their eye drops as prescribed, which is another important predictor of the risk of irreversible vision loss [3].

Glaucoma research continues to undergo great progress. This progress ranges from basic research to the development of new treatments and high-resolution imaging technologies to improve diagnostics. But Baxter’s quest to develop practical clinical tools hold great promise, too, and hopefully will help one day to protect the vision of millions of people with glaucoma around the world.

References:

[1] Machine learning-based predictive modeling of surgical intervention in glaucoma using systemic data from electronic health records. Baxter SL, Marks C, Kuo TT, Ohno-Machado L, Weinreb RN. Am J Ophthalmol. 2019 Dec; 208:30-40.

[2] Predictive analytics for glaucoma using data from the All of Us Research Program. Baxter SL, Saseendrakumar BR, Paul P, Kim J, Bonomi L, Kuo TT, Loperena R, Ratsimbazafy F, Boerwinkle E, Cicek M, Clark CR, Cohn E, Gebo K, Mayo K, Mockrin S, Schully SD, Ramirez A, Ohno-Machado L; All of Us Research Program Investigators. Am J Ophthalmol. 2021 Jul;227:74-86.

[3] Smart electronic eyedrop bottle for unobtrusive monitoring of glaucoma medication adherence. Aguilar-Rivera M, Erudaitius DT, Wu VM, Tantiongloc JC, Kang DY, Coleman TP, Baxter SL, Weinreb RN. Sensors (Basel). 2020 Apr 30;20(9):2570.

Links:

Glaucoma (National Eye Institute/NIH)

All of Us Research Program (NIH)

Video: Sally Baxter (All of Us Research Program)

Sally Baxter (University of California San Diego)

Baxter Project Information (NIH RePORTER)

NIH Director’s Early Independence Award (Common Fund)

NIH Support: Common Fund


All of Us: Partnering Together for the Future of Precision Medicine

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All of Us Research Program
Credit: All of Us Research Program

Over the past year, it’s been so inspiring to watch tens of thousands of people across the country selflessly step forward for vaccine trials and other research studies to combat COVID-19. And they are not alone. Many generous folks are volunteering to take part in other types of NIH-funded research that will improve health all across the spectrum, including the more than 360,000 who’ve already enrolled in the pioneering All of Us Research Program.

Now in its second year, All of Us is building a research community of 1 million participant partners to help us learn more about how genetics, environment, and lifestyle interact to influence disease and affect health. So far, more than 80 percent of participants who have completed all the initial enrollment steps are Black, Latino, rural, or from other communities historically underrepresented in biomedical research.

This community will build a diverse foundation for precision medicine, in which care is tailored to the individual, not the average patient as is now often the case. What’s also paradigm shifting about All of Us is its core value of sharing information back with participants about themselves. It is all done responsibly through each participant’s personal All of Us online account and with an emphasis on protecting privacy.

All of Us participants share their health information in many ways, such as taking part in surveys, offering access to their electronic health records, and providing biosamples (blood, urine, and/or saliva). In fact, researchers recently began genotyping and sequencing the DNA in some of those biosamples, and then returning results from analyses to participants who’ve indicated they’d like to receive such information. This first phase of genotyping DNA analysis will provide insights into their genetic ancestry and four traits, including bitter taste perception and tolerance for lactose.

Results of a second sequencing phase of DNA analysis will likely be ready in the coming year. These personalized reports will give interested participants information about how their bodies are likely to react to certain medications and about whether they face an increased risk of developing certain health conditions, such as some types of cancer or heart disease. To help participants better understand the results, they can make a phone appointment with a genetic counselor who is affiliated with the program.

This week, I had the pleasure of delivering the keynote address at the All of Us Virtual Face-to-Face. This lively meeting was attended by a consortium of more than 2,000 All of Us senior staff, program leads with participating healthcare provider organizations and federally qualified health centers, All of Us-supported researchers, community partners, and the all-important participant ambassadors.

If you are interested in becoming part of the All of Us community, I welcome you—there’s plenty of time to get involved! To learn more, just go to Join All of Us.

Links:

All of Us Research Program (NIH)

Join All of Us (NIH)


NIH’s All of Us Program Joins Fight Against COVID-19

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We’ve learned so much about coronavirus disease 2019 (COVID-19), but there’s still much more that we need to learn in order to defeat this devastating pandemic. Among the critical questions: why do some young people who appear healthy and have no history of chronic disease get very sick from the virus? And why do some people in their 80s or 90s seemingly just shrug off the infection? There’s something going on biologically, but we don’t yet have the answers.

We do, however, have some resources that will enable us to examine lots of data in search of biological clues. One of them is NIH’s All of Us Research Program, which is seeking the help of 1 million people to build one of the most diverse health databases in our nation’s history. Two years after its national launch, the program already has enrolled nearly 350,000 diverse participants from across the United States.

As its name suggests, All of Us is open to all people over age 18 in communities all around the country. An important strength of the effort has been welcoming participants from all backgrounds. Indeed, about 75 percent of people who have volunteered for the program come from groups that have traditionally been underrepresented in medical research. That includes people from many racial and ethnic minority groups, as well as those of many different ages, socioeconomic backgrounds, and geographic locations, including remote and rural areas.

Because of COVID-19 and the need for physical distancing to curb the spread of the potentially deadly virus, All of Us has been forced to halt temporarily all in-person appointments. But program leaders, including Josh Denny, chief executive officer of All of Us, and Kelly Gebo, the program’s chief medical and scientific officer, saw an opportunity to roll up their sleeves and help during this unprecedented public health challenge. In fact, Gebo reports that they’d already been hearing from many of their participant partners that they wanted to be a part of the solution to the COVID-19 pandemic.

To rise to this challenge, the All of Us Research Program has just announced three initiatives to assist the scientific community in seeking new insights into COVID-19. The program will:

• Test blood samples from 10,000 or more participants for the presence of SARS-CoV-2 antibodies, indicating prior infection. The testing will start on samples collected in March 2020 and work backward until positive tests are no longer found. This will show the prevalence of novel coronavirus exposure among All of Us participants from across the country, allowing researchers to sift through the data and assess the varying rates and timing of infections across regions and communities.

• Rapidly collect relevant information from more than 200,000 participants who have shared their electronic health records. A number of those participants have already either been diagnosed with COVID-19 or sought health care for related symptoms. The program is working to standardize this information. It will help researchers look for patterns and learn more about COVID-19 symptoms and associated health problems, as well as the effects of different medicines and treatments.

• Deploy a new online survey to understand better the effects of the COVID-19 pandemic on participants’ physical and mental health. This 20- to 30-minute survey is designed both for participants who have been ill with COVID-19 and those who have not knowingly been infected. Questions will be included on COVID-19 symptoms, stress, social distancing and the economic impacts of the pandemic. Participants are invited to take the survey each month until the pandemic ends, so researchers can study the effects of COVID-19 over time and begin to better understand how and why COVID-19 affects people differently.

As this data becomes available, researchers will look for new leads to inform our efforts to bring greater precision to the diagnosis, treatment, and prevention of COVID-19, including for those communities that have been hit the hardest. Another hope is that what is learned about COVID-19 through All of Us and other NIH-supported research will provide us with the knowledge and tools we need to avert future pandemics,

In case you’re wondering, I happen to be among the thousands of people who’ve already volunteered to take part in All of Us. If you’d like to get involved too, new participants are always welcome to join.

Links:

Coronavirus (COVID-19) (NIH)

All of Us Research Program (NIH)

Join All of Us (NIH)


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