NEW YORK (GenomeWeb News) – The National Human Genome Research Institute is marking the decade that has passed since the first sequencing of the human genome by unveiling its plans to move the genomics research field forward and help move genomic medicine beyond the lab and into practice.
The institute expects that in the coming decade researchers will be able to identify the genetic causes of most single-gene disorders and enhance knowledge about multi-gene disorders to aid the development of new diagnostic and therapeutic medical tools, NHGRI said today.
The strategic plan over the next 10 years will focus on advancing research to understand the structure and biology of genomes, to make discoveries about the biology of disease, to spur the science of medicine, and to improve health care.
The plan is based on the goal of using an expanding knowledge of the genome to create more and better catalogs of genomic data and to develop new technologies to dive into those data.
"Researchers around the world are working towards a future when health care providers will use information about our individual genomes to better diagnose and treat disease," NHGRI Director Eric Green said in a statement. "While significant challenges remain to our understanding of how the genome operates in health and disease, there are enough examples to say with confidence that genomics research will lead to important advances in medicine."
Many of the advances in genomics will be made possible by the plummeting costs and swift uptake of next-generation sequencing technologies.
"It took all the sequencing capacity in the world about 13 years to produce the first human genome sequence," said Mark Guyer, NHGRI's director of the NHGRI Division of Extramural Research.
"In 2003, around the time we completed the Human Genome Project, technology had improved to the point where 100 machines could sequence a human-sized genome in about three months. In 2011, one machine can produce a human-sized sequence in about five days," Guyer said.
Green and Guyer co-authored a paper on NHGRI's plans, "Charting a Course for Genomic Medicine from Base Pairs to Bedside," to be published in the Feb. 10 issue of Nature.
More than the latest sequencers will be needed to support NHGRI's ambition to integrate genomic medicine into clinical care, however. The institute wants to see faster, cheaper, and more accurate tools for interpreting long sequences of the genome and to be able to use sequence information at the point of care. The strategy also seeks the development of new tools for measuring interactions between genes, behavior, and environment, and for routine clinical applications of newborn genetic screening and other types of diagnostic screening.
The plan also proposes greater use and development of electronic medical records that integrate family histories and genomic data for use in diagnosis, prevention, and treatment planning.
The genomics field also requires development of new analytical methods, software tools, and a stronger computational infrastructure to provide scientists with tools for "analyzing, integrating, and storing the mountains of complex genomic data that will be gathered from thousands of individuals," according to NHGRI.
Multi-disciplinary and international research teams for collaborating and analyzing data about conditions, as well as rapid release of genomic data, also will be important aspects of NHGRI's strategy going forward.
"Our base-pairs-to-bedside plan maps the next steps in the herculean endeavor not only to discover medical secrets hidden within the human genomes, but to bring those discoveries to the practitioner and patient," Green said.
"All of us in this field share a sense of urgency about using genomics for clinical applications. The challenges are enormous, but we believe that, working together, the goal of improving human health is within reach," he added.
In addition to the paper, NHGRI is holding a scientific symposium on Friday to mark the first 10 years of the post-human genome sequence era and to discuss contemporary and future genomics research efforts.