By Jay Lyman, NewsFactor
Raising the
prospect of enormous advances for researchers as well as potentially
significant ethical dilemmas, a working draft of the human DNA
sequence is now accessible to anyone with Internet access on the
Human Genome Web page.
The gene
mapping is seen in scientific fields as a groundbreaking tool
that may help researchers connect diseases and disorders to specific
genes, speeding cures and corrections. It has also been a boon
to biotechnology and biomedical firms, while at the same time
raising ethical questions about gene medicine.
Provided by
the National Center for Biotechnology Information (NCBI), the
DNA sequence of the human genome is available free and will be
published in the February 15th edition of "Nature."
The center, part of the National Library of Medicine in Bethesda,
Maryland, announced the human gene mapping in conjunction with
Celera Genomics Group at the White House last June.
Chromosome
Download
The actual
map of the human genome can be downloaded chromosome by chromosome
in contiguous sequence, to create a total map of human DNA for
scientists or members of the public. The NCBI calls this the first
assembly of the genome sequence in an organized resource, complete
with identification of important regions, such as those containing
genes.
Using its
tools, the NCBI says scientists can locate a gene in the genome,
find other genes in the same region, correlate diseases to genes,
search for similar genes in other organisms, and look at genetic
variations.
"What
we have in DNA sequencing data has been distributed for free since
the early 1980s," NCBI spokeswoman Barbara Rapp told NewsFactor
Network. "What's important is that we've assembled the data
into comprehensive form." According to Rapp, the entire genome
sequence -- 2.3 billion base pairs of DNA -- and directory make
up a 6.9 gigabit file.
Mapping
a Course
Just as the
huge genome mapping takes time to download, scientists are now
taking some time to decipher the meaning of its parts and whole.
"With
the entire human genome now available to scientists around the
world, the challenge shifts to uncovering the function of each
human gene and making use of this knowledge to develop innovative
therapies," said Dr. Harvey J. Berger, chairman and CEO of
pharmaceutical researcher ARIAD.
Rapp said
the center's mapping has linked genome sequences based on DNA
"landmarks," while Celera used "shotgun sequencing,"
linking the landmarks based on the genomes.
Paying
for the Genes
The Human
Genome Project offers the mapping and readers' guides for free,
but research firms such as Immunex and institutions such as Vanderbilt
University have already been using the genome database, paying
a reported US$15 million and $10,000, respectively, to get their
gene mapping from Celera.
Celera customers
claim its database is easier to use, saving huge amounts of time
and resources. The company is also reportedly using the genome
mapping to develop drugs and treatments on its own. Analysts say
Celera may become as big as drug and health giant Pfizer.
Ethical
Concerns
While many
companies are reaping the rewards of genome mapping efforts, the
research and science of DNA mapping and gene therapy create an
ethical minefield, according to some bioethics groups.
National Bioethics
Advisory Commissioner Alexander Capron told NewsFactor the cumulative
findings in genome research "serve to remind us that it doesn't
make sense to talk about the human gene."
Capron said
while genome research has implications for access and use of genetics
information that could affect treatments and cures for humans,
there is concern that patenting genes could hinder positive research.
"There
is an effort to limit gene patents in a way that doesn't affect
downstream development," Capron said.
Gene research
and manipulation raise concerns over genetic discrimination, screening,
privacy and therapy. Still, most experts are not alarmed or opposed
to public access to the genome mapping.
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