President Barack Obama stirred speculation in the medical community when he briefly mentioned a "precision medicine initiative" in his State of the Union address.
On Friday, the White House gave details.
Obama will dedicate $215 million in his budget request to the program, which will seek to broaden medicine's understanding of the molecular underpinnings of cancer, compile comprehensive health information on at least a million American volunteers, and improve data sharing across government, academia and the private sector.
The project "will dramatically advance our knowledge of disease," Francis Collins, director of the National Institutes of Health, said on a conference call with reporters.
The initiative aims to produce results both in the near term, in areas like cancer and pharmacogenomics, as well as over longer periods, in pioneering new models for research, Collins said.
A geneticist himself, Collins helped discover the gene tied to cystic fibrosis in 1989. In the State of the Union address, Obama highlighted a drug for the fatal lung disease as an example of the medical advancement his initiative will seek to propel.
"I want the country that eliminated polio and mapped the human genome to lead a new era of medicine—one that delivers the right treatment at the right time," Obama said in the Jan. 20 speech. "In some patients with cystic fibrosis, this approach has reversed a disease once thought unstoppable."
He was referring to Vertex Pharmaceuticals' Kalydeco, the first drug to address the genetic cause of cystic fibrosis. It was approved by the Food and Drug Administration in 2012, in a review that took just three months rather than the standard 10 or accelerated six.
Vertex is among companies whose executives received mysterious invitations this week to attend an event at the White House on Friday. Others include Regeneron, Merck, Illumina and Foundation Medicine.
"We believe strongly in this model of using human genetics to identify new targets," Vertex Chief Executive Officer Jeff Leiden said in a telephone interview. "Our experience with cystic fibrosis tells us that works well."
So what is precision medicine? It's a term used frequently, often interchangeably with "personalized medicine." Dr. David Altshuler, a geneticist and founder of the Broad Institute of Harvard and MIT, as well as Vertex's recently appointed chief scientific officer, puts it this way:
"Precision medicine is a new way of discovering medicines that target the underlying cause of disease," he said by telephone. "What distinguishes it is starting with a target that really is a root cause rather than one involved in symptoms of a disease, with the potential that a medicine will actually be able to modify the course of the disease, or even prevent the disease."
Here's how the White House breaks down the $215 million investment, to be included in the president's budget proposal expected Monday:
-$130 million to the National Institutes of Health to develop the "voluntary national research cohort" of a million people.
-$70 million to the National Cancer Institute, part of the NIH, for work identifying the genomic drivers of cancer and drug development resulting from that research.
-$10 million to the FDA to develop databases needed to support regulatory aspects of the program.
-$5 million to the Office of the National Coordinator for Health Information Technology to support systems for secure data sharing across systems.
Which companies were invited says a lot about what the administration is seeking to encourage with the initiative. Regeneron, for example, announced its own human genetics initiative early last year, partnering with Geisinger Health System to sequence the genomes of about 100,000 volunteers to seek the genetic roots of disease.
One of the most advanced drugs in Regeneron's pipeline, a cholesterol medicine aimed at a target known as PCSK9, is based on that kind of research (though is unrelated to the Geisinger collaboration): the discovery of an aerobics instructor in Texas with abnormally low levels of cholesterol, and the genetic exploration of what caused it.
But sequencing genomes isn't all the "voluntary national research cohort" will aim to do, the administration says (and it won't be able to sequence all million volunteers' genomes immediately). It will look to collect data on lifestyle, medical records, microorganisms living in and on the body, and information generated from personal health devices. And it will seek to share it with researchers across sectors—including with drug companies. (Privacy, the White House says, will be "rigorously protected.")
The approach may help shorten drug development timelines, Vertex's Leiden said. But he cautioned that new drugs won't emerge immediately.
"This is a very valuable technology, and it will lead to new targets," he said. "But it's still a 10- to 20-year process to develop medicines; it's a long, hard, expensive process. People need to have reasonable expectations."