As big genomics projects take off around the world, the U.S.’s initiative has made a fast start, enrolling 175,000 participants in the All of Us Research program in its first year. That represents almost 1/5thof the total number of participants the project is aiming for. Plus, approximately 80% of those people are from groups that have been traditionally underrepresented in biomedical research. One of the program’s main goals is to include many people from diverse ancestries. A Special Reportin The New England Journal of Medicine provided a summary of the study’s progress to data.
President Barack Obama first announced the program (then called the Precision Medicine Initiative cohort program) during his January 2015 State of the Union address. The All of Us network of grant awardees received initial funding from the National Institutes of Health (NIH) in July 2016. The program began enrollment in 2018 and the goal is to get data from 1 million volunteers whose health and outcomes will be followed over decades.
Participants must be 18 or older, and agree to share their electronic health record (EHR) data, donate biospecimens for genomic and other laboratory assessments, respond to surveys, and submit to standardized physical measurements. They can also contribute data from sensors and mobile health devices and agree to be contacted for future research opportunities.
Health care provider members of the project include regional medical centers, federally qualified health centers, and the Veterans Health Administration. These facilities are expected to recruit the majority of the participants in the program. There is also a direct-volunteer route for enrollment that allows people who are not patients in one of the participating healthcare facilities to enroll online. They then visit a designated health clinic, blood bank, laboratory facility, or health care provider organization to complete their participation.
Lately there has been growingcriticism that the clinical utility of genomics is hampered because most genomic dataisfrom white European populations while neglecting other races and ethnicities. According to a recent analysis published in the journal Cell this lack of diversity in genomic data has important implications for risk prediction of diseases across global populations and exacerbates health care inequities. The Cell study reports that as of 2018, 78 percent of all individuals included in genomic studies of disease were of European descent, 10 percent Asian, 2 percent African, 1 percent Hispanic, and less than 1 percent for all other groups.
The All of Us program seeks to recruit people in demographic categories that have long been underrepresented in biomedical research, and therefore have relatively poor access to good health care. Race, ethnicity, age, sex, gender identity, sexual orientation, disability status, access to care, income, educational attainment, and geographic location are therefore taken into account. All of Me also seeks to capture other social and behavioral determinants of health. Persons in underrepresented populations who are enrolled in the program will be prioritized for physical measurements and biospecimen collections. Among persons from whom biospecimens are obtained, the target percentage of persons in racial and ethnic minorities is more than 45% and that of persons in underrepresented populations is more than 75%.
In addition to All of US, there are a growing number of genomic databases around the world that are contributing data about understudied populations, for example, The Qatar Genome, Genome India, and GenomeAsia 100k.