NIH Launches Extensive Open-Access Dataset of Genetic and Clinical Data
News Oct 05, 2007
The National Institutes of Health (NIH) is launching one of the most extensive collections of genetic and clinical data ever made freely available to researchers worldwide. Called SHARe (SNP Health Association Resource), the Web-based dataset enables qualified researchers to access a wealth of data from large population-based studies, starting with the landmark Framingham Heart Study.
Funded by the NIH's National Heart, Lung, and Blood Institute (NHLBI), SHARe will accelerate discoveries linking genes and health, thereby advancing scientists' understanding of the causes and prevention of cardiovascular disease and other disorders.
Framingham SHARe includes data on more than 9,300 participants spanning three generations, including over 900 families, who had their DNA tested for 550,000 genetic variations (single nucleotide polymorphisms, or SNPs). In addition, the participants' clinical data gathered during the study, such as test results or weight, are included. SHARe will enable researchers to relate study participants' genetic variations with their clinical and laboratory test results. The Framingham Heart Study is funded by NHLBI in collaboration with Boston University School of Medicine (BUSM) and Boston University School of Public Health.
"The widespread availability of Framingham Heart Study data provides unprecedented opportunities to investigate the connections between genes and disease," said Health and Human Services (HHS) Secretary Mike Leavitt. "SHARe represents a major milestone in moving toward an era of personalized health care - a future in which the ways we prevent, diagnose, and treat health problems are tailored to an individual's genetic makeup."
Last month, Leavitt released the first HHS report on personalized health care. The report, "Personalized Health Care: Opportunities, Pathways, Resources", includes a review of departmental activities to advance genomic knowledge and incorporate gene-based advances in clinical care for patients.
"Sharing information while also safeguarding the privacy and confidentiality of our valued research participants is our best route toward an increased understanding of the genetic role in health and disease," said NIH Director Elias Zerhouni, M.D. "This is an exciting convergence of advanced information technology with what we've learned from the Human Genome Project and major clinical research endeavors, which will boost our research capacity."
NHLBI Director Elizabeth G. Nabel, M.D., said, "As one of the most comprehensive studies ever undertaken, the Framingham Heart Study will play a vital role in laying the foundation for this vast dataset to help researchers link genes and disease." She noted that data from ongoing Framingham Heart Study research will continue to be added. NHLBI will also incorporate data from other large studies. "NHLBI is firmly committed to maximizing this important new resource."
Karen Antman, M.D., BUSM dean and provost of the Boston University Medical Campus, noted that the university is pleased to be a part of this important endeavor. "The ongoing collaboration among the many Framingham Heart Study researchers has advanced our knowledge about health and disease, helping to improve the well-being of millions of individuals. In addition, the study participants have made invaluable contributions to science, and we are indebted to them."
SHARe is accessed through dbGaP, or the database of Genotypes and Phenotypes, a Web-based resource for archiving and distributing data from genome-wide association studies (GWAS). GWAS explore the associations between genes (genotype information) and observable traits (phenotypes), such as weight, cholesterol levels, or the presence or absence of a disease. Launched in December 2006, dbGaP was developed and is operated by the National Center for Biotechnology Information (NCBI), a division of NIH's National Library of Medicine (NLM).
The dbGaP also provides, for the first time, a central repository where study documentation, such as protocols and questionnaires, is linked to summary data of measured variables.
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