Whole-genome sequencing of 35,000 de-identified, diverse genomic DNA samples will begin this month

Illumina Inc., a global leader in DNA sequencing and array-based technologies, and Nashville Biosciences LLC, a wholly owned subsidiary of Vanderbilt University Medical Center (VUMC), have announced an agreement with Amgen, a global biopharmaceutical company, to whole-genome sequence approximately 35,000 DNA samples. The sample cohort is primarily made up of DNA from African Americans, who are currently underrepresented in research for the clinical applications of genomics, including drug target discovery. This cohort will be the largest data set of genomes of its kind to date.

It's widely recognized that most genomic data sets are drawn from people of European ancestry. This lack of diversity in genomic data has created a gap in the scientific understanding of the underlying genetic causes of disease and inhibits equitable access to precision health therapies.

Sequencing this set of samples is the first in Illumina and Nashville Biosciences' Alliance for Genomic Discovery (AGD), a multiyear agreement to accelerate therapeutic development through large-scale genomics and establish a preeminent clinico-genomic data set.

Launched in 2022, the AGD aims to whole-genome sequence at least 250,000 de-identified human DNA samples from VUMC's BioVU biobank over two and a half years in collaboration with multiple biopharmaceutical companies. The BioVU samples were extracted from blood collected during routine clinical testing. The patients who provided them consented to research use, and the samples are linked to extensive de-identified clinical data derived from VUMC's electronic medical records.

"The whole-genome sequencing of these 35,000 samples will work toward greater diversity of genomic data to ultimately enable improved access to precision therapies for all people," said Joydeep Goswami, chief strategy and corporate development officer and interim chief financial officer of Illumina.

"The initial cohort will be among the largest sequencing efforts involving African Americans to date," said Leeland Ekstrom, chief executive officer of Nashville Biosciences. "Once complete, this data set will provide a wealth of new information about the human genome and accelerate the study of disease in—and discovery of new therapeutics for—populations less well represented in prior large-scale sequencing efforts. The opportunity to sequence this diverse set of samples will help broaden our understanding for individuals who have been underrepresented in genetic research and continue to experience health disparities."

As part of the agreement announced today, deCODE genetics, a wholly owned subsidiary of Amgen, will perform whole-genome sequencing on the 35,000 samples using Illumina sequencing technologies and will upload the data to the Illumina Connected Analytics platform.

"deCODE's sophisticated human data capabilities are well positioned to sequence these samples and analyze the resulting data to provide a better scientific understanding of disease through the context of human diversity," said Kári Stefánsson, founder of deCODE genetics. "Insights from human data, including both genetics and clinical records, can help inform how medicines may affect different patient populations."

Pharma and biotech collaborators that plan to participate in the AGD and in further sequencing may soon be announced. Researchers will analyze the data for drug discovery and therapy development. The data will also be returned to BioVU to be made available for academic research within the Vanderbilt community.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Its focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Illumina's products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments.

About Nashville Biosciences

Nashville Biosciences, a wholly owned subsidiary of Vanderbilt University Medical Center (VUMC), was created to harness the Medical Center's extensive genomic and bioinformatics resources for drug and diagnostics discovery and development. Leveraging Vanderbilt University innovation, Nashville Biosciences serves as a commercial interface between outside companies and the formidable research capabilities housed within VUMC, including BioVU®, one of the world's most comprehensive genetic databases linked to de-identified medical records with years of longitudinal clinical data. This unique asset is one of the largest and highest quality of its kind, providing an opportunity to guide R&D activity in biotech, pharma, diagnostics, medical devices, and other life sciences applications.