The NIH’s All of Us research program announced this morning the release of the first whole-genome sequences generated by the program. Nearly 100,000 strong, the sequencing data is notable for its diversity, with nearly 50% of the sequence data derived from people belonging to racial or ethnic groups that have traditionally been underrepresented in earlier genome research studies.
The genomic data is available via a cloud-based platform, the All of Us Researcher Workbench, and also includes genotyping arrays from 165,000 participants.
The data release comes as efforts to address both data disparities and care disparities among racial and ethnic populations are picking up steam. Just yesterday, AI-driven precision health data company Sema4 announced it was taking a smaller health disparities in cancer care study nationwide, as it looks to help close the gap in cancer care and mortality, especially among African Americans.
“Until now, over 90% of participants from large genomics studies have been of European descent. The lack of diversity in research has hindered scientific discovery,” said Josh Denny, M.D., CEO of the All of Us Research Program in a press release. “All of Us participants are leading the way toward more equitable representation in medical research through their involvement. And this is just the beginning. Over time, as we expand our data and add new tools, this dataset will become an indispensable resource for health research.”
Launched in 2018, the All of Us research program got off to a slow start, but has been building momentum. In addition to building a trove of genomic data for participants, the program is also building data based on participant questionnaires and also by incorporating data from wearable, such as Fitbit, which partnered with All of Us in early 2019 to allow users to voluntarily submit their data for inclusion in the research. The intention is to build a dataset that not only contains genomic data, but other data that can help unravel questions surrounding social determinants of individual health.
“There is a unique depth and dimensionality to the All of Us platform that sets it apart from other resources in the field. It’s also designed with team science in mind, allowing researchers to explore topics in an open and collaborative way,” said Gail Jarvik, M.D., Ph.D., head of the Division of Medical Genetics at the University of Washington School of Medicine, Seattle. “As the Researcher Workbench matures, it will create nearly endless possibilities for discovery to understand the role of genes and variants, as well as many other factors that combine to affect health and disease.”
Beyond the benefit to researchers, All of Us participants to can choose to receive the results of their DNA testing at no charge. To date, it has offered genetic ancestry and trait results to more than 100,000 participants. Once it has built its capabilities later this year All of Us will also share health-related DNA results on hereditary disease risk and medication-gene interactions.
