While the All of Us program has received media attention as the largest precision medicine study to ever take place in the United States, another smaller, but influential program is also taking place at the NIH to further precision medicine.
The Trans-Omics for Precision Medicine (TOPMed) Program, a program of the National Heart, Lung, and Blood Institute (NHLBI), collects and couples whole-genome sequencing (WGS) data and other -omics data (i.e. transcriptomics, proteomics) with molecular, behavioral, imaging, environmental, and clinical data from heart, lung, blood, and sleep studies.
Currently, the TOPMed program funds nine centers around the country that collect WGS data from participants who have diseases with well-defined clinical characteristics and outcomes from earlier NHLBI-funded studies. Initially, the program planned to sequence 20,000 genomes, but then increased that number to about 62,000 genomes. The program is also piloting “-omics” studies by collecting expression, DNA methylation, and metabolite information from participants of the NHLBI-funded Multi-Ethnic Study of Atherosclerosis.
The University of Texas Health Science Center (UTHealth), working with the Baylor College of Medicine’s Human Genomic Sequencing Center (HGSC), is a participant in the TOPMed program. The NHLBI originally gave the HGSC a grant to sequence genomes for diseases like sickle cell, but the HGSC recently received a renewal on the grant to expand the research to include RNA transcription sequencing and DNA methylation.
Over the past 20 years, the HGSC has grown into an international leader for genome sequencing. Located in Houston, Texas in the Texas Medical Center, the world’s largest medical complex, the center uses high technology methods such as high-throughput DNA sequencing and advanced computational analysis. The center prides itself on its service to the community by depositing much of its information into public databases at the National Center for Biotechnology Information. These capabilities make the HGSC fully prepared to fulfill the TOPMed initiative with UTHealth.
The team at the HGSC will collect the participant samples from the NHLBI and perform WGS and possibly RNA sequencing on eligible samples. Then, the results will go the team at UTHealth who will perform the methylation and metabolomics analysis. The combination of these results will then be sent to TOPMed.
For more information: https://www.newswise.com/articles/uthealth-part-of-unprecedented-nhlbi-grant-to-bring-adult-whole-genome-sequencing-to-clinical-space
PHOTO CREDIT: Maresa Smith via deathtothestockphoto.com