Freedom of Information Act Office
IC Directors' Mini-Retreat Highlights
May 29, 2012
|Subject:||IC Directors' Meeting Highlights — April 12, 2012|
Welcome: Dr. Collins provided brief opening remarks, emphasizing the intention of this mini-retreat to enhance collaborations across NIH, identify new ideas, and highlight the exciting advances at NIH.
Global Health: Harold Varmus and Roger Glass
Dr. Varmus introduced the topic of global health, highlighting the tremendous opportunity for partnership across the ICs, both large and small, and other entities, such as foundations. He discussed the rationale for investment in global health, noting that investments have increased dramatically over the past decade and broadened in scope to include more recent investments in non-communicable diseases, in addition to infectious diseases and maternal/infant health. He encouraged thoughts and suggestions on how to enhance collaborations and build new partnerships.
Dr. Glass echoed the importance of collaborative efforts in global health and noted that several global sites exist that illustrate long-term investments by multiple ICs. Several IC Directors shared examples of ongoing Centers and collaborations. There was significant interest in the current global health inventory activities.
Big Data: Andrea Norris and David Lipman
Ms. Norris opened the “Big Data” discussion by highlighting three areas of big data at NIH: 1) the National Big Data Initiative led by the White House Office of Science and Technology Policy (OSTP), 2) the Advisory Committee to the Director (ACD) Data and Informatics Working Group (DIWG), and 3) the newly-formed internal NIH working groups to parallel the ACD DIWG activities. She noted that NIH is part of the funding announcement that the OSTP Big Data Initiative recently coordinated. She also noted that the ACD DIWG is charged to provide the ACD with recommendations in June 2012, and the internal NIH working groups are getting situated to act upon the pending recommendations.
Dr. Lipman provided an overview of the ways in which NCBI already deals with Big Data. He highlighted the 1000 Genomes Project, noting that 7 petabytes of data have been downloaded from NCBI in the past 12 months. He also highlighted a recent Science publication that leveraged information from this data to make new scientific discoveries. Dr. Lipman asserted that the long term challenge for next generation sequencing is derived data. He also proposed that healthcare/clinical data is an area of opportunity for NIH.
Genotyping to Phenotyping and Phenotyping to Genotyping: Eric Green, Teri Manolio, and Richard Hodes
Dr. Green introduced the topic of genotype to phenotype (G2P) and phenotype to genotype (P2G) by casting it within the context of NHGRI's recently published strategic plan for genomics—moving from the Human Genome Project to the realization of genomic medicine. He highlighted the use of genomics to develop a better understanding of the biology of disease, and described classic approaches and new opportunities for G2P and P2G. Dr. Manolio then provided an overview of major genome sequencing projects and upcoming trans-NIH workshops. She noted barriers and needs for large-scale G2P and P2G, including core phenotyping, broad and standardized consent, and robust approaches to genome sequencing and data analysis.
Dr. Hodes posed questions for consideration of G2P/P2G studies going forward. He welcomed ideas on additional barriers to effective G2P/P2G studies, particularly interesting phenotypes to study, and potential trans-NIH collaborative efforts that could be envisioned. IC Directors noted that re-contact of study participants is a huge challenge. Additional challenges include the merging of disparate types of phenotypic data, the temporal nature of diagnoses, and cross-species studies.