The United States has proposed analysing the genetic information of more than 1 million American volunteers as part of a new initiative to understand human disease and develop medicines targeted to an individual’s genetic make-up.
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.
Dr. Francis Collins, director of the National Institutes of Health (NIH) said the near-term goal of the initiative was to create more and better treatments for cancer.
He said in the longer term, the project would provide information on how to individualise treatment for a range of diseases.
Dr Collins said the initial focus on cancer was partly due to the lethality of the disease and partly because targeted medicine, known also as precision medicine, had made significant advances in cancer, although much more work was needed.
The president proposed $US215 million in his 2016 budget for the initiative.
Of that, $US130 million would go to the NIH to fund the research cohort and $US70 million to NIH’s National Cancer Institute to intensify efforts to identify molecular drivers of cancer and apply that knowledge to drug development.
The remaining $US15 million would go towards developing databases and privacy standards which would ensure the secure exchange of data.
Initiative to face funding, privacy issues
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.
Moreover, the funding was not nearly enough to sequence 1 million genomes from scratch.
Whole-genome sequencing, though plummeting in price, still costs about $US1,000 per genome, Dr 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 personalised medicine to veterans, it has enrolled more than 300,000 veterans and determined the DNA sequences of about 200,000.
Academic centres have, with NIH funding, also amassed thousands of genomes and linked them to the risk of disease and other health outcomes.
Perhaps the most audacious effort is by the non-profit Human Longevity Inc, headed by Craig Venter, which in 2013 launched a project to sequence 1 million genomes by 2020.
“We’re happy to work with them to help move the science,” Mr Venter said in an interview, referring to the administration’s initiative.
But he said the many regulations surrounding medical privacy and human volunteers would mean they would not be able to “just mingle databases”.
Mr Venter said it sounded like a “naive assumption” if the White House expected existing cohorts to merge into its 1-million-genomes project.
Dr Collins conceded that mingling the databases would be a challenge but insisted it was doable.
“It is something that can be achieved but obviously there is a lot that needs to be done,” he said.
Reuters