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Environmental Factor

May 2011

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NHGRI director reveals roadmap for genomic medicine

By Ed Kang
May 2011

Eric Green, M.D., Ph.D.

In his February presentation, as well as his talk at NIEHS, Green charted a course for genomic medicine and offered an exciting glimpse into contemporary genomics research, illustrating how the field can be used to further groundbreaking medical discoveries. (Photo courtesy of NIH)

Two men looking at a computer and talking. One is gesturing with his hands.

Green's tour of the Institute allowed him the opportunity to meet a few NIEHS researchers, who described, with great enthusiasm, their projects. After a stop with Senior Associate Scientist Dmitry Gordenin, Ph.D., Green visited with Research Fellow Sergei Nechaev, Ph.D.(Photo courtesy of Steve McCaw)

An audience watches a presentation on a large screen

With genomic - and epigenomic - investigations playing an influential role in the future of environmental health science, many NIEHS scientists listened with keen interest to Green's message. (Photo courtesy of Steve McCaw)

Green behind a podium, speaking to the audience

Green's message left no doubt as to the value of investments in human genome sequencing efforts. "We are at an interesting time in history," he noted. Then in reference to a February 2010 cover story (  Download Adobe Reader (625 KB) in Nature, he added, "The future is bright." (Photo courtesy of Steve McCaw)

In his first visit to NIEHS on April 11, Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute, reflected on the past, present and future of genomics. In looking back 20 years to the genesis of the $1 billion venture known as the Human Genome Project, Green recognized that the complete sequencing of the human genome was not the end, but merely the beginning of a decades-long journey towards individualized medicine.

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A path forward

Green's vision for his institute is to "establish the path towards realizing genomic medicine."

A 2 1/2 year, collaborative strategic planning process, much like the one NIEHS is currently undertaking, yielded a new vision( Exit NIEHS for NHGRI that spans basic research into how the human genome is organized to clinical applications that will use knowledge of the genome to develop new diagnostics, therapeutics, and preventions.

Green described research priorities that begin with understanding the structure and function of human and comparative genomes. From this basis, scientists will have a solid foundation to evaluate and catalog human genomic variation to ultimately better understand disease and health risk. Green referenced a growing body of literature pointing to functional contributors within the genome that determine normal, healthy biology, as well as those that, when altered, lead to common as well as rare diseases.

"One of the promises of the Human Genome Project can now be seen at the distant horizon - the merging of genomics and medicine. Researchers around the world are working towards a future when health care providers will use information about our individual genomic blueprint to better diagnose and treat disease," Green postulated.  

At the nexus of genomics and computing

New sequencing technologies are a major driver of new developments in genomics research. While it took 13 years to produce the first human genome sequence, one machine can now produce a human-sized sequence in about five days.

"These next gen sequencing technologies have completely changed the face of genomics, and will continue to do so," Green stated. Further technological improvements will be critical to successfully integrate genomic knowledge into clinical care. Green calls for fast, low-cost - approximately $1,000 - whole genome sequencing, which would then be financially accessible in a clinical setting.

Further, Green described a bottleneck in biomedical research where current datasets are so vast and complex that there is a growing need for massive hardware and software, as well as people, to manage this growing pool of data. Development of new analytical methods, software tools, and a robust computational infrastructure will be essential. Interdisciplinary research, combining the best of biology, genetics and informatics, will also be needed to access the mountains of complex genomic data that will be gathered from thousands of individuals, according to Green.

Base pairs to bedside

"Our plan maps the next steps to not only discover medical secrets hidden within the human genome, but to bring those discoveries to the practitioner and patient," Green said, referring to the expansion of genomic approaches which already inform some medical treatments, particularly in dealing with breast and colorectal cancer. These successes demonstrate that genomic science is already having an impact on medical care, with potentially much wider applications as genomics increasingly becomes an integral part of health research and development.

With this ever-expanding body of knowledge, scientists will likely identify the genetic basis of most single-gene disorders in the next decade. Furthermore, molecular pathways that are implicated in single-gene disorders may hold important clues for the diagnosis and treatment of common, multigene disease, Green alluded.

The next revolution in health care, according to Green, will be to deliver therapeutics tailored to the genetic make-up of the individual. Unlocking the genome to evaluate the genetic components of human disease, cancer, and the microbiome will be a leap forward in protecting human health.

(Ed Kang is a public affairs specialist in the Office of Communications and Public Liaison and a contributor to the Environmental Factor.)

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