Population scale clinical sequencing

The National Human Genome Research Institute awarded Baylor College of Medicine a $599,448 cooperative agreement on April 1, 2026, under the Human Genome Research program (CFDA 93.172) to conduct population-scale clinical sequencing and genetic testing for CDC Tier-One conditions and collaborator-nominated loci.

The Human Genome Sequencing Center at Baylor will perform whole exome sequencing and whole genome sequencing using novel capture reagents, with expanded genome sequence assays including WES plus capture of common polymorphic sites for genotyping. The center will engage clinical groups in variant interpretation and clinical validation of additional loci, leveraging its CAP/CLIA-compliant laboratory infrastructure and experience processing nearly 200,000 samples. The recipient will manage secure data delivery and develop streamlined processes for variant interpretation and reporting to clinical collaborators.

Performance occurs in Texas with a period running through January 31, 2031.

Abstract

The human genome sequencing center (HGSC) at baylor college of medicine (BCM) is an internationally recognized academic center that pioneered personal clinical genomic testing via whole genome sequencing (WGS) and oligonucleotide capture for whole exome sequencing (WES) and now provides clinical genetic testing via the HGSC- clinical laboratory (HGSC-CL). The HGSC-CL is cap/clia compliant laboratory, able to operate in all U.S. States and territories and has processed almost 200,000 samples using WGS, WES and gene panels. The HGSC-CL has developed novel capture reagents for WES and will engage with clinical groups in this program for genetic testing for CDC tier-one, conditions as well as for other loci that are nominated by the collaborators. Careful calibration of the capture performance enables WES to be carried out within the stringent cost demands of this program whilst leaving sufficient margin to provide parallel essays for sample tracking and detailed post sequence analysis. Expanded genome sequence assays are available, including a novel WES plus capture of common polymorphic sites for genotyping. The CDC tier 1 essays are ready for deployment and any other loci can be readily clinically validated within the HGSC-CL. Infrastructure developed for engagement of clinical groups and for secure management and delivery of genetic data will be applied and experience in similar clinical genomic programs leveraged additional developments will speed and simplify the fundamental process of variant interpretation for reporting.