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 At the heart of the initiative, to be announced on Friday by
President Barack Obama, is the creation of a pool of people -
healthy and ill, men and women, old and young - who would be studied
to learn how genetic variants affect health and disease.
Officials hope genetic data from several hundred thousand
participants in ongoing genetic studies would be used, and other
volunteers recruited to reach the 1 million total.
The near-term goal is to create more and better treatments for
cancer, Dr. Francis Collins, director of the National Institutes of
Health (NIH), told reporters on a conference call on Thursday.
Longer term, he said, the project would provide information on how
to individualize treatment for a range of diseases.
The initial focus on cancer, he said, is due partly to the lethality
of the disease and partly because targeted medicine, known also as
precision medicine, has made significant advances in cancer,
although much more work is needed.
The president has proposed $215 million in his 2016 budget for the
initiative. Of that, $130 million would go to the NIH to fund the
research cohort and $70 million to NIH's National Cancer Institute
to intensify efforts to identify molecular drivers of cancer and
apply that knowledge to drug development.
A further $10 million would go to the Food and Drug Administration
to develop databases on which to build an appropriate regulatory
structure; $5 million would go to the Office of the National
Coordinator for Health Information Technology to develop privacy
standards and ensure the secure exchange of data.
The effort may raise alarm bells for privacy rights advocates who in
the past have questioned the government's ability to guarantee that
DNA information is kept anonymous. They have expressed fear
participants may become identifiable or face discrimination.
SEQUENCING 1 MILLION GENOMES
The funding is not nearly enough to sequence 1 million genomes from
scratch. Whole-genome sequencing, though plummeting in price, still
costs about $1,000 per genome, Collins said, meaning this component
alone would cost $1 billion.
Instead, he said, the national cohort would be assembled both from
new volunteers interested in "an opportunity to take part in
something historic," and existing cohorts that are already linking
genomic data to medical outcomes.
 The most ambitious of these is the Million Veteran Program, launched
in 2011 by the Department of Veterans Affairs. Aimed at making
genomic discoveries and bringing personalized medicine to veterans,
it has enrolled more than 300,000 veterans and determined the DNA
sequences of about 200,000. The VA was a pioneer in electronic health records, which it will use
to link the genotypes to vets' medical histories.
Academic centers have, with NIH funding, also amassed thousands of
genomes and linked them to the risk of disease and other health
outcomes. The Electronic Medical Records and Genomics Network,
announced by NIH in 2007, aims to combine DNA information on more
than 300,000 people and look for connections to diseases as varied
as autism, appendicitis, cataracts, diabetes and dementia.
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In 2014, Regeneron Pharmaceuticals Inc launched a collaboration with
Pennsylvania-based Geisinger Health System to sequence the DNA of
100,000 Geisinger patients and, using their anonymous medical
records, look for correlations between genes and disease. The
company has finished 50,000 samples, spokeswoman Hala Mirza said.
Perhaps the most audacious effort is by the non-profit Human
Longevity Inc, headed by Craig Venter. In 2013 it launched a project
to sequence 1 million genomes by 2020. Privately funded, it will be
made available to pharmaceutical companies such as Roche Holding AG,
with which the institute has a research partnership.
"We're happy to work with them to help move the science," Venter
said in an interview, referring to the administration's initiative.
But because of the many regulations surrounding medical privacy and
human volunteers, he said, "we can't just mingle databases. It
sounds like a naive assumption" if the White House expects existing
cohorts to merge into its 1-million-genomes project.
Venter raced the government-funded Human Genome Project to a draw in
2000, sequencing the entire human genome using private funding in
less time than it took the public effort.
ALTERING THE REGULATORY LANDSCAPE
Collins conceded that mingling the databases would be a challenge
but insisted it is doable.
"It is something that can be achieved but obviously there is a lot
that needs to be done," he said.
Collating, analyzing and applying all this data to the development
of new drugs will require changes to how products are reviewed and
approved by health regulators.
Dr. Margaret Hamburg, the FDA's commissioner, said on the conference
call that the emerging field of precision medicine "presents a set
of new issues for us at FDA." The agency is discussing new ways to
approach the review process for personalized medicines and tests,
she added.
(Reporting by Toni Clarke in Washington; Editing by Cynthia
Osterman)
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