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NHGRI Long-Range Planning
 The National Human Genome Research Institute (NHGRI) has always been guided by a sequential series of plans, developed with considerable input from the scientific community, which have laid out ambitious goals and measurable objectives to gauge progress. It has been seven years since the NHGRI began its last planning process, which culminated in the publication in April 2003 of our Vision for the Future of Human Genome Research in Nature.
While that document has worn well, the phenomenal advances in genomics and related fields since its publication indicate that it is time for us to look anew at the future of human genome research. To begin this process, NHGRI held a meeting in April 2008 of its senior scientific staff and a few outside experts to consider the future of genomics and, more importantly, how to stimulate a vigorous interaction with the scientific community about that future and NHGRI's role in it.
That meeting identified a number of areas that warranted discussion, including:
- Large-scale DNA sequencing and its applications, such as medical sequencing, comparative sequencing, and metagenomic sequencing
- Sequence-based functional genomics, currently being addressed by projects such as ENCODE, modENCODE, and MGC, but also including the disease-specific transcriptome profiles of disease, siRNAs, microRNAs, the language of gene regulation, and cell states
- Population genomics
- Informatics and computational biology relevant to genomics, including new bioinformatic tools, databases/browsers, and beyond
- Epigenomics
- Proteomics
- Chemical genomics
- Genomics of good health
- Ethical, legal, and social implications, including new social network models for direct-to-consumer information distribution, public education, and implications for clinical research
- Application of genomics to clinical problems, including rare diseases, global health, diagnostics, prevention, and therapeutics
- Large-scale population cohort study
The meeting also identified a number of forums for obtaining community input, including:
- White papers (see below)
- Wiki for public comment
- Workshops
- Webinars
- A large summary meeting, similar to the Airlie House meeting held in 2003
Our next step is to kick-start a conversation among our community members via a series of "white papers" that will begin to address relevant topics. A number of white papers on various topics will be posted in the coming months; three are now available for your comment regarding the following: diagnostics, preventive medicine, and pharmacogenomics; therapeutics; and education and community engagement.
These are not white papers in the standard sense of a specific proposal. Rather, they are sets of questions that NHGRI, with input from a few outside experts, has proposed as the most important ones to address. What we ask for you to comment on now is whether these are the right questions and whether there are additional important questions that we should add. Thus, our first goal is to develop a set of more refined and useful questions. Once that set has been established, we will then solicit the scientific community for answers to those questions.
The first three white papers are now available through the links below. We invite your review and comment in two phases:
Phase 1: Open now. In Phase 1, we ask you to comment on the questions posed in the white papers, to ensure that we have developed the right set of questions. Phase 1 will continue through January 30, 2009.
Phase 2: Once a mature set of questions are established, Phase 2 will commence. For phase 2, we will collect community responses to the posed questions, starting in mid-February 2009 and continuing through mid-April 2009.
To stimulate discussion, comments received will be posted for viewing. All comments received through this white-paper process will be used to generate topics for further planning activities and workshops, which will be held in 2009 and 2010.
These Web pages will be regularly updated, with new white papers posted for comment in the coming weeks and months.
White Papers
For more information about the NHGRI planning process, please contact:
Susan Vasquez
Special Assistant to the Acting Director
National Human Genome Research Institute
National Institutes of Health
Building 31, Room 4B09
31 Center Drive
Bethesda, MD 20892-2152
Phone: 301-496-0844
Fax: 301-402-0837
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Last Updated: December 30, 2008
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