The National Human Genome Research Institute (NHGRI) announced plans to form a new precision health research program within its Division of Intramural Research. NHGRI seeks to develop and evaluate next-generation healthcare that employs cutting-edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease.
Leslie Biesecker, MD, chief of the NHGRI Medical Genomics and Metabolic Genetics Branch, was selected to lead the program due to his extensive experience in genomic medicine research. Josh Denny, MD, an expert in clinical informatics and precision medicine whose research group will reside within the NHGRI Intramural Research Program will also join. Denny recently arrived at NIH as the new CEO of the All of Us Research Program.
Time is Now
Over the last decade, advances in genomic technologies, computation and data science lead to the growth of large genomic datasets, with DNA from hundreds of thousands of participants collected and stored in biobanks. These repositories afford researchers the opportunity to investigate how genes affect health in powerful new ways reports the NIHGRI. In fact, NHGRI Director Eric Green, MD, PhD, noted, “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.” Now Green emphasized its time to transform or convert the knowledge “into more effective healthcare.”
And in parallel, with a growing availability of electronic health records for use in research, investigators re offered unprecedented opportunity to identify subtle but important elements related to human disease that would otherwise be near impossible to discern. The new program will of course leverage all of these available tools in the NIH setting.
Genomics + Informatics
Hence the timing is now to start leveraging the vast pool of genomic data, made possible by the Human Genome Project and all of the advances thereafter, plus the explosion in electronic health record data (and associated Big Data offerings) for heretofore not feasible strategies to combine genomics and informatics to the study of human disease.
Now with the establishment of the NHGRI precision health research program within the broader NIH Intramural Research Program new unprecedented and unique opportunities will be presented to investigators. Researchers will leverage large datasets emanating from various cohort studies around the world—such as the UK Biobank, BioVU, ClinSeq, All of Us and others.
Leslie Biesecker, MD, chief of the NHGRI Medical Genomics and Metabolic Genetics Branch