Research

Medicine, To Be Precise

In his $215 million Precision Medicine Initiative, Obama makes a case for genome sequencing.

For years, we have been teased with the promise of a new era of rationally designed, tailor-made medicines targeted to a specific glitch in our genetic makeup. Many have called this concept “personalized medicine;” others prefer “individualized medicine.” But last January, a new term — precision medicine — received the presidential seal of approval.

In front of a star-studded audience in the East Room of the White House, President Barack Obama unveiled a $215 million Precision Medicine Initiative that he had mentioned briefly in his 2015 State of the Union address on January 20. The bulk of the funding ($130 million) will go to the National Institutes of Health (NIH) for the creation of a biobank that tracks the medical data (including genome sequences) of at least 1 million volunteers. A further $70 million would go to the National Cancer Institute (NCI) to spur research on the development of targeted cancer drugs. An additional $10 million will go to the Food and Drug Administration to help it set up the necessary regulatory framework. Finally, $5 million will go to the Office of the National Coordinator for Health Information Technology to ensure all data systems sync.

“Let’s be honest,” wrote Forbes science and healthcare editor Matthew Herper, “these initiatives are partly there to make the president look presidential.” Well, if so, the strategy worked admirably: This was the same room where, 15 years earlier, President Bill Clinton had stood between NIH chief Francis Collins and Craig Venter, founder of the Human Longevity startup, to announce the historic first draft of the human genome.

Obama’s interest in precision medicine dates back a decade, to his stint as a U.S. senator, when he co-sponsored a personalized medicine bill. While Obama chose not to dwell on semantic differences in the definitions of personalized and precision medicine, he did underscore the plummeting cost of sequencing a human genome, from about $100 million for the first sequence to “less than $2,000.” (I confess I was a little miffed that the president didn’t refer to my book The $1,000 Genome. I presume his advisors felt it premature to endorse the marketing hype of sequencer-in-chief Illumina about this much ballyhooed price point having truly been met at last.)

While Obama chose not to dwell on semantic differences in the definitions of personalized and precision medicine, he did underscore the plummeting cost of sequencing a human genome, from about $100 million for the first sequence to ‘less than $2,000.’

During his speech, Obama highlighted individuals who have benefited from modern advances in precision medicine, including William Elder Jr., a 27-year-old medical student who suffers from the inherited lung disease cystic fibrosis (CF). Elder is among a small minority of CF patients with a specific gene mutation that responds to a new Vertex Pharmaceuticals drug called Kalydeco (ivacaftor). He recalls waking up one night after taking the drug with a strange sensation: For the first time in his life, he could breathe through his nose.

Also hard to miss was the towering presence of Kareem Abdul-Jabbar. I assumed he was waiting for a pickup game with the president, but it turns out the basketball legend is a leukemia survivor who has been treated with a precision drug.

Venter, the longtime nemesis of the scientists managing the Human Genome Project, was a surprise guest. With his latest company, Human Longevity, Venter aims to sequence 1 million genomes by the year 2020, with the intent to hunt down genes that influence longevity and trigger age-related diseases, such as cancer and diabetes. His business model would involve providing (and selling) some of that precious proprietary information to biopharma companies. (While that may sound uncannily like the premise of Venter’s former company, Celera, pharma companies are increasingly willing to pay for genomic data on large cohorts of people.)

Also enjoying a front-row seat was Harold Varmus, the director of the NCI and a Nobel laureate. In a joint editorial in The New England Journal of Medicine, Collins and Varmus wrote that, “Oncology is the clear choice for enhancing the near-term impact of precision medicine.” The two men relish the new resources that will bolster an immensely exciting period for basic and translational cancer research.

But the boldest aspect of the initiative is the call for 1 million (or more) volunteers who would agree to donate blood and tissue samples for “extensive characterization of biologic specimens,” including proteins, metabolites, and RNA samples, as well as complete genome sequencing. The volunteers would also supply behavioral data, with everything stored in electronic health records and accessible to researchers.

Collins and Varmus noted that the president’s initiative taps into societal trends — social media, mobile devices — and a “growing desire to be active partners in medical research.” Downstream benefits could include new mobile health apps, medical procedures, and real-time noninvasive biomarker tracking.

This biobank plan reminds me of the Personal Genome Project, an audacious volunteer program launched by Harvard Medical School geneticist George Church a decade ago. Thousands have enrolled in the program, agreeing to donate tissue samples and release their genomic data and medical records online for all to see. By contrast, the new Precision Medicine Initiative aims to walk a very fine line — fostering accessibility to volunteers’ data while safeguarding their confidentiality.

The $215 million price tag for the Precision Medicine Initiative is a far cry from the $3 billion earmarked in 1990 for the Human Genome Project, but it is a lot of money to request from a Republican-controlled Congress intent on reducing government spending. However, there are times when consortia and “big biology” projects are needed to complement the nimble investigator-driven research that delivers so many fundamental scientific breakthroughs.

Since the Human Genome Project, the NIH has funded the ENCODE (Encyclopedia of DNA Elements) Project and the BRAIN (Brain Research through Advancing Innovative Neurotechnologies) Initiative. This investment in precision medicine would pay for itself in future years in healthcare savings — fewer unnecessary tests and surgeries and foreshortened hospital stays.

Obama has admitted he is “not a scientist,” but he clearly revels in the company. As he left the podium, he gestured to a large model of the DNA double helix and quipped: “This, by the way, is DNA, for those of you who are not familiar with it.” Understanding the myriad bonds between the double helix and our health is surely something we can all support, whichever side of the political spectrum we’re on.