Future Opportunities for Genome Sequencing and Beyond
NHGRI convenes workshop on the future of genome sequencing program
By Steven Benowitz
Associate Director of Communications, Extramural Research Program
With the help of the genomics research community, NHGRI has regularly evaluated the direction and organization of the GSP since the Human Genome Project was completed in 2003. This has helped to keep the GSP focused on ambitious and significant projects that push the boundaries of genome sequencing technology applications and develop important data resources for the biomedical research community.
Informed by the input received before the last program renewal (2012), the GSP was downsized by 20 percent and split into four major components: the Large-Scale Sequencing and Analysis Centers (LSAC) program; the Centers for Mendelian Genomics (CMG) program; the Clinical Sequencing Exploratory Research (CSER) program; and the Genome Sequencing Informatics Tools (GS-IT) program.
Major achievements in the most recent GSP iteration include:
- Expansion of The Cancer Genome Atlas project, in collaboration with the National Cancer Institute, which explores the genomic underpinnings of cancer.
- Near completion of the 1,000 Genomes Project, which examines human genomic variation.
- Identification of 500 or so novel genes involved in Mendelian disorders (rare, inherited diseases typically due to a mutation in a single gene).
- New knowledge about the best ways to design studies to discover genomic variants involved in inherited disease and cancer.
- Identification and articulation of key considerations for using genome sequencing in the clinic and returning genomic results to patients and physicians.
- Development of powerful computational tools for genome analysis, ranging from DNA sequence processing to variant prediction and annotation.
The central issues to be discussed at the workshop include:
- What are the key scientific opportunities for large-scale genomics efforts - in both genome sequencing and other related areas - over approximately the next five years?
- What are the innovative opportunities for discovering genes and genomic variants that contribute to common disease (such as type 2 diabetes, Alzheimer's disease, and cancer) and Mendelian conditions?
- What are the remaining important questions in comparative and evolutionary genomics?
- What other data types will be important for understanding whether a genomic variant affects function? More generally, how should functional genomics be integrated with genomic sequencing studies?
- What are the next steps needed to make clinical applications of genome sequencing valuable, feasible and routine?
- What are the best strategies to implement a program or programs to achieve the type of scientific goals identified at the workshop? What scope, scale and degree of organization are appropriate?
Posted: July 22, 2014