The NIGMS Repository has been selected to provide genetic reference samples for the All of Us Research Program, an initiative designed to advance research into individualized health care. In the upcoming years, All of Us will collect broad health data from over one million participants, allowing scientists to integrate extrinsic factors that influence health, such as the environment and lifestyle, with the classically studied biological aspects, notably genetics, in determining medical treatment.
As a part of this initiative, the NIH has granted funding for several Genome Centers to sequence one million genomes to provide both genomic data for researchers as well as genetic testing information for genes associated with high-risk diseases for the participants. “In this age of personalized medicine, people are looking to genetic information to help guide the medical decisions that they make”, says Dr. Matthew Mitchell, Co-Principal Investigator of the NIGMS Repository.
The first, and perhaps most important, stage in this process is to ensure consistency between the Genome Centers—that is to say that the separate centers are indeed obtaining identical DNA sequencing results for the same samples. For this critical step of validation, the Coriell Institute has provided All of Us with 30 samples from the NIGMS and NIA Repositories that harbor specific mutations in classically studied genes of clinical relevance. These samples have been sent out as replicates to each Genome Center, where they will be sequenced and compared to one another.
This initial step of verification is more than a simple routine check to identify potential problems. Rather, it is a crucial cornerstone for the integrity of the entire study, providing legitimacy to the results obtained from this research program. “The individual variations in the genome that are of clinical importance are, at best, needles in a haystack”, adds Dr. Mitchell. “This makes it all the more important to have the utmost confidence in the results of genome sequencing, and avoid doubting results that could have resulted from a technical error.”
The All of Us program is underway, having begun the initial phases of patient enrollment process in 2018. This study seeks to push the limits of wide-scale population studies that have come before it, by representing diversity of race, ethnicity, age, gender identity, sexual orientation, education, disability, and socioeconomic status. With such comprehensive information, researchers will be able to use the database to study the many factors that contribute to human health and apply this knowledge to improve treatment options available for patients.
