NHGRI Funding Plan Includes Clinical Sequencing, Software and Disease Research

By Bio-IT World Staff 

December 6, 2011 | The National Human Genome Research Institute (NHGRI) has announced the latest iteration of its flagship genome sequencing funding program -- worth $416 million over four years -- that features new initiatives in the search for the underlying causes of rare inherited diseases and accelerates the use of genome sequence information in the clinical arena.   

“Our goal is to empower all types of researchers and health care professionals to use genomic information in their research and eventually in patient care,” said NHGRI director Eric Green in a press briefing.  

In its strategic plan published earlier this year, NHGRI outlined its vision for fulfilling the promise of genomics to advance human health. “That vision builds on the success of the Human Genome Project and genomic studies that have been pursued since its completion, and then charts a course to accelerate the application of genomics to medical care. With the investments made over the last decade, and the new ones that we are now announcing, a path towards the realization of genomic medicine can be envisioned,” said Green.  

The bulk of the funding – $86 million in the first year of the plan -- will be divided among the three principal genome centers in the United States -- the Broad Institute ($35.9 million), Washington University, St Louis ($28.4 million) and Baylor College of Medicine ($21.3 million), under the direction of Eric Lander, Richard Wilson and Richard Gibbs, respectively. The funding supports basic genome research, studies dissecting the genetic contributions in complex disorders, and other federally supported projects including The Cancer Genome Atlas.   

NHGRI deputy director Mark Guyer said the funding for the genome centers would be gradually scaled down over the subsequent three years.  

“NHGRI relies on the large-scale centers to be its sequencing production and intellectual powerhouses,” said Adam Felsenfeld, program director for NHGRI's Genome Sequencing Program. “They carried the heaviest workloads for NIH during the Human Genome Project, and they have become world leaders in genomics. We look forward to their continued contributions to increasing the value of genome sequencing for both biology and biomedicine.”  

Clinical Sequencing   

In light of exciting progress in the application of exome and whole-genome sequencing in the clinic, NHGRI is investing $10 million/year to help accelerate the transition of genomic science from basic research to medical applications. (Additional funding is being supplied by the National Cancer Institute.)  

Five multi-disciplinary Clinical Sequencing Exploratory Research Projects will study how healthcare professionals can apply genome sequencing information in a clinical setting, seeking input from physicians, ethicists, scientists, patients and families. These projects will study how to incorporate genomic data into medical records, what tools are needed to extract relevant information from a patient’s genome sequence, and how the availability of sequence data affects a physician’s recommendations regarding treatment, as well as issues surrounding counseling and consent.  

“We foresee genome sequencing becoming a routine part of medical care,” said Brad Ozenberger, NHGRI program director for Genomic Medicine. “We regularly hear anecdotal accounts of people who have made remarkable recoveries from illness by early applications of genomic medicine, especially for some types of cancer and acute diseases. These projects are exploring the best ways to widen the use of genomic medicine in a responsible, respectful way.”  

“This program is really the next step [beyond sheer genome sequencing], where the sequencing technology and even the disease area is less important than exploring the methods of bringing genomic sequencing into the clinic workflow for the benefit of individual patients,” Ozenberger said.   

The grants go to Baylor College of Medicine (principal investigators Sharon Plon and Will Parsons); Brigham and Women’s Hospital, Boston (Robert Green); Children’s Hospital of Philadelphia (Ian Krantz and Nancy Spinner); University of North Carolina (James Evans); and University of Washington, Seattle (Gail Jarvik). (A sixth grantee may be announced later.)  

New Informatics Tools   

Another component in the Genome Sequencing program focuses on the need for robust, well-supported computer software programs that can be used by investigators beyond the largest genome centers to analyze genome sequence data. With the democratization of DNA sequencing facilitated by unprecedented technology improvements and falling costs, data analysis is a major problem for many research labs, let alone clinical settings. Many users find current sequence analysis tools too complicated to install and use routinely.   

“What we’re funding now will empower and advance the field in a fashion that will benefit the private sector’s investment in these areas,” said Green.  

NHGRI will invest nearly $20 million over four years to fund the further development of existing software to make it more generally accessible and to accelerate the ability of investigators to analyze genome sequence data. The institute will use various funding mechanisms, including cooperative agreements and Small Business Innovation Research grants, beginning in early 2012.   

Mendelian Long Tail  

NHGRI is also earmarking $40 million over four years for a tri-center program to study the “long tail” of human genetics – the genetics of rare inherited or Mendelian disorders. Researchers have thus far identified the molecular basis of fewer than half the estimated 6,000 or more rare genetic diseases. The National Heart, Lung and Blood Institute is adding a further $8 million to the cause.    

The centers are the Center for Mendelian Genomics, University of Washington, Seattle ($5.2 million/year), the Center for Mendelian Disorders at Yale University ($2.8 million/year), and the Baylor-Johns Hopkins Center for Mendelian Genetics ($4 million/year). Senior investigators include Jay Shendure, Michael Bamshad, Rick Lifton, David Valle and James Lupski. (The University of Washington will serve as the coordinating center for the program.) The centers plan to join the International Rare Disease Research Consortium, which aims to develop diagnoses for about 200 disorders by 2020.  

Green also said that NHGRI’s goal of building sequencing programs aimed at understanding Mendelian and complex disorders, as well as other NIH investments in cancer, will accelerate opportunities in therapeutic development.  

Ed Note: Bio-IT World will be hosting the inaugural CLINICAL GENOME Conference in San Francisco in June 2012.