International HapMap Consortium Widens Data Access|
Mapping of Human Genetic Variation Will Speed Search for Disease Genes
Bethesda, Maryland The International HapMap Consortium
today announced that it is ending computer-based "click wrap"
license restrictions on data generated by its effort to create a
map of human genetic variation. As a result, all of the consortium's
data are now completely available to the public, a move that will
provide researchers with even easier access to tools for identifying
genetic contributions to disease.
The consortium is developing a map of common patterns, or haplotypes,
of human genetic variation that can be used as a resource for scientists
searching for genes related to health and disease. To create the
HapMap, DNA was taken from blood samples collected by researchers
in China, Japan, Nigeria and the United States. No medical or personal
identifying information was obtained from the 270 individuals providing
the samples. However, the samples are identified by the population
from which they were collected.
The $130 million project, which was launched in October 2002
and is expected to be completed in September 2005, is a public-private
partnership of scientists and funding agencies from Canada, China,
Japan, Nigeria, the United Kingdom and the United States. The U.S.
component is led by the National Human Genome Research Institute
(NHGRI) on behalf of the 19 institutes, centers and offices of the
National Institutes of Health (NIH) that contributed funding. For
more information on the International HapMap Project, see http://genome.gov/10001688.
From the outset, the consortium followed the example of the Human
Genome Project and made most of its data quickly and freely available
through public databases on the Internet. However, concerns existed
that outside groups might be able to combine some of the HapMap
data with their own data to generate patentable inventions a process
referred to by some as "parasitic patenting." Such patents
could potentially be used to exclude other researchers from being
able to freely use the HapMap data. To prevent this from happening,
the HapMap consortium required users to sign, using a simple mouse
click from their computers, a free, non-exclusive, non-royalty-bearing
licensing agreement to obtain access to certain types of data the
project had collected on individuals' DNA sequences, specifically
the genotypes. Under terms of that license, users agreed not to
prevent others from using the individual genotype data and to share
data only with those who had also agreed to this condition.
"The licensing agreement was quite non-restrictive and enabled
most researchers to use HapMap data as they wished. However, there
was an unavoidable consequence of the license: it did prevent HapMap
data from being incorporated into other public genomic databases,"
said NHGRI Director Francis S. Collins, M.D., Ph.D. "We are
pleased that researchers around the globe will now have swift and
easy access to all HapMap data, free of any restrictions."
Several recent developments prompted the consortium's decision
to drop the licensing requirement. First, consortium researchers
already have publicly released data on about one million single
nucleotide polymorphisms (SNPs) in the individual DNA samples that
have been genotyped for the HapMap project. Second, Perlegen Sciences,
Inc., of Mountain View, Calif., has publicly released genotype data
on about 1.6 million SNPs. Third, new methods have been developed
to analyze the data and are being used to determine the genome-wide
patterns of genetic variation in the HapMap data. These advances
led the consortium to conclude that the patterns of human genetic
variation can readily be determined clearly enough from the primary
genotype data to constitute prior art. Thus, in the view of the
consortium, derivation of haplotypes and "haplotype tag SNPs"
from HapMap data should be considered obvious and thus not patentable.
Therefore, the original reasons for imposing the licensing requirement
no longer exist and the requirement can be dropped. This decision
will allow the HapMap project's Data Coordination Center to post
all of the consortium's monthly release of data and to distribute
this data to other public databases, such as the NIH-funded National
Center for Biotechnology Information's dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/)
and the JSNP Database in Japan (http://snp.ims.u-tokyo.ac.jp/).
"We are excited that the HapMap data will be even more easily
available for researchers to use in their efforts to find genes
that influence many common diseases, such as diabetes, hypertension
and arthritis. Gene mappers have been using the HapMap data almost
as rapidly as we have been able to generate them," said Yusuke
Nakamura, M.D., Ph.D., director of the University of Tokyo's Human
Genome Center, as well as leader of the RIKEN SNP Research Center
and the Japanese group working on the International HapMap Project.
Researchers are already using the HapMap data to study conditions
such as type 2 diabetes, asthma and dyslexia, as well as genes related
to differences in how individuals metabolize and react to certain
medications. When the HapMap is completed next year, those studies
will be able to be carried out even more efficiently.
"We are delighted that our public databases will now be able
to integrate the HapMap data with other genomic data," said
Ewan Birney, Ph.D., who heads Ensembl, one of the public databases
that had been unable, until today, to incorporate the HapMap data,
and which is a joint genome browser project between the European
Bioinformatics Institute and the Wellcome Trust Sanger Institute
in Cambridge, England. "Now, researchers will be able to study
how this new information about human genetic variation relates to
genes and their function. Such studies are essential to efforts
to develop better ways of diagnosing, treating and preventing human
NHGRI is one of the 27 institutes and centers at the NIH, which
is an agency of the Department of Health and Human Services. The
NHGRI Division of Extramural Research supports grants for research
and for training and career development at sites nationwide. Additional
information about NHGRI can be found at www.genome.gov.