New Precision Medicine Program to Study Role of Genomics in Disease

February 13, 2020 - The National Human Genome Research Institute (NHGRI) has announced that it will establish a new precision medicine and genomics program within its Division of Intramural Research.

The new program will leverage innovative genomics and informatics tools to improve the diagnosis, treatment, and prevention of disease, as well as develop the next generation of healthcare.

Over the last decade, advancements in genomic technologies, computation, and data science have led to the growth of large genomic datasets, containing DNA from hundreds of thousands of participants that is collected and stored in biobanks. These biobanks allow researchers to  

“Progress in genomics since the completion of the Human Genome Project has exceeded even optimistic expectations in terms of discoveries about the genetic basis of health and disease,” said NHGRI Director Eric Green, MD, PhD. “Knowledge about the clinical relevance of genomic variants is growing in leaps and bounds – and the new and exciting challenge is to turn that knowledge into more effective healthcare.”

Additionally, the growing availability of EHRs has led to unprecedented abilities to identify subtle but significant factors related to human disease that might otherwise be difficult to discern. The new precision medicine program will utilize these available tools in an NIH setting.

“This effort is about establishing a highly interactive group of researchers who will focus on using genomics and informatics to improve healthcare outcomes,” said Leslie Biesecker, MD, chief of the NHGRI Medical Genomics and Metabolic Genetics Branch and the new program’s director. “There is no limit to what you can do when you have a critical mass of talented and motivated people empowered by cutting-edge genomics and informatics tools.”

With the establishment of the NHGRI precision medicine program, the NIH Clinical Center will provide unique and unprecedented opportunities to study individuals identified through the new informatics approaches. This will help test new diagnostic approaches and treatments for patients.

The multi-faceted, interdisciplinary program will also include major research projects as well as core facilities that will accelerate the work of other NHGRI intramural researchers. One core will provide access to the large datasets coming from various cohort studies worldwide, while another core will support the study of selected cohort participants in the NIH Clinical Center in efforts focused on evaluating the predictive power of genomic medicine.

The establishment of the new precision medicine program will add to NHGRI’s many efforts to advance the use of genomics in research and healthcare. In April 2018, the organization completed detailed genomic data analysis of the PanCancer Atlas, a dataset of molecular and clinical information from over 10,000 tumors representing 33 type of cancer.

The PanCancer Atlas sums up the work of The Cancer Genome Atlas (TCGA), a multi-institution collaboration initiated and supported by NHGRI.

“TCGA was the first project of its scale to characterize – at the molecular level – cancer across a breadth of cancer types,” said Carolyn Hutter, PhD, director of NHGRI’s Division of Genome Sciences and the NHGRI team lead for TCGA.

“At the project’s infancy 10 years ago, it wasn’t even possible, much less on such a scale, to do the types of characterization and analysis that were being proposed. It was a hugely ambitious project.”

With the launch of the new program, NHGRI will continue to enhance care delivery and precision medicine research across the healthcare industry.

“The new NHGRI precision health research program is well-positioned to capitalize on a confluence of developments related to the growing availability of genomic and medical data cohort-based studies,” said Green. “It is truly a magical time to surge ahead and change the practice of medicine in meaningful ways.”