New data from the National Institutes of Health’s All of Us Research Program show the power of participation in supporting research on breast cancer. More than 10,000 All of Us participants who have contributed data from electronic health records have been diagnosed with breast cancer. More than 38,000 participants shared a family history of breast cancer in a program survey. This data is being used to support more than 135 studies on the Researcher Workbench focused on breast cancer and is helping researchers improve the understanding of the genetic, environmental, and lifestyle risk factors for the disease.
In addition to sharing data, participants can also choose to gain new knowledge about their own health, including whether they may be at increased risk of developing breast or ovarian cancer. Since the program began returning health-related results in December 2022, more than 180,000 participants who have contributed blood samples have been invited to receive health-related DNA results, at no cost.
The reports deliver research results that can help participants decipher how their genes may impact their health risks, including variations in the genes called BRCA1 and BRCA2. These variations may increase a person’s risk of breast and ovarian cancer, information that could be important for treatment or screening. Participants can access free genetic counseling to discuss their health-related research results from All of Us. Those who receive results that show a potential increased risk of a serious health condition are offered a free clinical DNA test to confirm the research results.
“Like so many All of Us participants, the importance of creating a vital data resource for researchers is personal,” said Karriem Watson, D.H.Sc., M.S., M.P.H., the chief engagement officer of the All of Us Research Program. “I lost my birth mother to breast cancer and have several family members impacted by breast cancer and colon cancer.“ By returning valuable health information to participants, the program is ensuring the flow of information is a two-way street, Watson said. “Especially when it comes to breast cancer. Having information that can inform decisions about screening and early detection can help make a difference in improving outcomes and addressing health disparities.”
While overall survival rates after a breast cancer diagnosis have improved over the years, some communities are disproportionately impacted by worse outcomes. Breast cancer is a leading cause of cancer deaths among Black and Hispanic women, and Black women have a 40% greater chance of dying of breast cancer than white women, even though they are diagnosed at rates similar to white women. The program’s commitment to increasing diverse representation in research is an important step forward for achieving inclusion of underrepresented communities. More than 75% of All of Us participants identify with communities underrepresented in biomedical research, with about 45% who identify with a racial or ethnic minority group.
The diversity of All of Us’ participant community is notable compared to many prior research efforts. To date, more than 90% of participants from large genomics studies worldwide have been of European descent. Participants in the All of Us Research Program who identify with communities underrepresented in medical research are helping scientists better understand more genetic variations. This knowledge may be important in identifying the underlying causes of breast cancer and differences in how individuals might respond to treatments or efforts to prevent and detect the disease.
“Without thoughtful inclusion in research, we won’t have the tools needed to address disparities in breast cancer,” said Watson. “Through their participation, people from communities all around the country are opening up new opportunities in breast cancer research, while having the opportunity to better understand their own health risks.”
More than 7,000 research projects are underway on the Researcher Workbench, on a range of health topics. The current research projects related to breast cancer are exploring important questions like:
- When it comes to breast cancer risk, treatment and outcomes, what are common racial, ethnic, and socioeconomic disparities?
- In addition to what we know about BRCA mutations, are there other important genetic variations and genomic “signatures” that put people at greater risk of breast cancer?
- How do different types of breast cancer tumors respond to different treatments? What factors affect the risk of recurrence?
Participant data have already helped expand what we know about breast cancer. One study from the University of Wisconsin explored how All of Us data could support a more personalized, risk-based approach to breast cancer screening, to better balance the benefits of early detection and the downsides of over testing. Another study from the University of Arizona yielded new insights about the connection between breast cancer and different cholesterol levels.
More than 480,000 participants have joined All of Us since it began national enrollment in 2018, contributing different kinds of data – including from participant surveys, electronic health records, biosamples, physical measurements, and wearable devices, like Fitbit devices.