advisory committee that will be responsible for developing a plan for carrying out the initiative. He also named Yale University’s Richard P. Lifton and NIH deputy director Kathy Hudson to head the group.
The budget for the initiative proposed for fiscal 2016 calls for spending about $70 million on developing new methods for achieving near-term objectives that use recent innovations in genomics to diagnose and treat cancer. The idea is to develop targeted drug therapies for specific types of cancer—“kind of like using a smart bomb instead of chemotherapy, which is more like carpet bombing,” Collins said.
The precision medicine initiative proposes to allocate another $130 million or so to build a massive database of detailed health and genomic information on 1 million Americans who volunteer to participate in the effort. Doctors would be able to identify crucial variations in their patients’ genomes by comparing the patients’ genomic data against this master database.
Amassing such a long-term, large-scale cohort “gives us access to the kind of deep information and the kind of power that we have not had before,” Collins said. “That means we need to create a whole new set of approaches for collecting every kind of variable from participants.”
A database of 1 million whole genomes—a single human genome is about 350 gigabytes—also will require innovations in high-performance computing, managing Big Data, and in predictive analytics. It also would serve as a powerful test bed for a wide array of new applications in mobile health, and in improving the utility of electronic medical records for patient care and research. Such a database also is expected to drive innovations in genomics that include new ways of assessing the risk of disease, why some patients remain resilient even with genetic mutations known to cause disease, and a greater understanding of so-called “knockout genes” in humans, Collins said.
He later added, “This will be a phenomenal foundational platform for testing all manner of interventions that will focus on both wellness and the management of chronic disease.”
Collins said he began calling for an initiative like this over a decade ago, and now a series of technological trends are coming together to finally make it feasible.
These trends include whole-genome sequencing for under $5,000, smartphones and wearable devices that can capture personal health and fitness information, healthcare providers’ widespread adoption (over 90 percent) of electronic medical records, and cloud-scale computing power.
The concept of precision medicine is not new, Collins said. “If you go to the optometrist, you expect to get eyeglasses that are actually for you, and not a generic person. If you need a blood transfusion, you probably want that to be matched to you, and we’ve been doing that for almost a century.”
Nevertheless, “It’s still the case that much of medicine is one-size-fits-all, and we’d like to change that if it’s going to improve outcomes,” Collins said. “That includes such things as genomics, of course, but also other kinds of technologies, access to electronic medical records, the mHealth revolution, and so on.”
