PHILADELPHIA – There can be no greater advocate and leader of President Obama’s Precision Medicine Initiative (PMI) than Francis Collins, director of the NIH, who was the keynote speaker kicking off the Personalized Medicine & Diagnostics track at the BIO 2015 International Convention.

In introducing Collins, Jim Greenwood, president and CEO of BIO, said that among his many accomplishments, one that was not generally known is that Collins is also an avid guitarist and singer. As an example he played a short video showing him singing the “sequester blues” to the delight of the delegates in the standing-room only conference room.

Greenwood said he was sure that he wouldn’t be “singing the blues” in his presentation now that the PMI has become a reality, which Collins affirmed, saying he was delighted the PMI had received bipartisan support. He did, however, remind the audience that it was not a new idea and that, in 2004, he had called for an ambitious large-scale, long-term trial that could provide information on how environmental factors influence many common diseases.

The idea, Collins said, did not find support at the time because the technology needed to realize the promise of precision medicine, which focuses on the individual rather than an “average” patient, wasn’t available.

However, in the intervening decade a great deal has happened to make such a project feasible.

Among those include the fact that the cost of human genome sequencing has dramatically fallen to around $4,000 from the $100 million price tag 10 years ago; electronic health records, while still a work in progress, have become more prevalent, along with an expanding array of mobile monitoring technologies; and the development and utilization of big data projects are contributing new insights into the genomics of various complex diseases.

BIG DATA

To that end, the NIH has established the Big Data to Knowledge Centers of Excellence program designed to improve the ability of the research community to use increasingly large and complex datasets through the development and distribution of innovative approaches, methods, software and tools for data sharing, integration, analysis and management. The centers also will provide training for students and researchers to use and develop data science methods.

The program is in line with the goal of reducing the cost and time it takes to discover viable therapeutic targets and new diagnostics.

The PMI will comprise two components: cancer clinical trials and the creation of a large research cohort to expand our knowledge of precision medicine approaches for all diseases. The near-term cancer component of the initiative will test precision therapies in collaboration with private sector partners, and expand current understanding of therapeutic response. The second component provides a long-term structure to generate a knowledge base to move precision medicine to health and disease more broadly by building a national research cohort of 1 million or more volunteers and supporting research to develop and test technology and mobile health approaches.

NEAR-TERM GOALS

The funding of $215 million is in place and all the stars are aligning to move forward with the initiative, Collins noted. For the near-term cancer project, researchers are going to take what projects are already under way and “put them on steroids,” ramping up the genomic analysis component considerably.

The initiative also will support clinical trials, in partnership with pharmaceutical companies, to test combinations of targeted therapies that are based on a tumor’s molecular signature. It also plans to develop solutions to drug resistance that commonly limit the effectiveness of targeted therapies and develop approaches that can assess response to therapy.

There are a number of ongoing programs that will provide valuable input to the initiative, including the Tissuechip for Drug Screening program. Those tissue chips are designed to mimic the functions of human organs and allow researchers to screen for drug toxicity, obviating the need for animal testing.

Also, because more and more medical and research centers are sequencing the DNA of whole genomes, millions of DNA differences in genes and the regions between the genes are detected. However, doctors struggle to know which of those variants are relevant to disease and to a patient’s medical care. As a result, their utility isn’t very high, Collins said. That is why the Clinical Genome Resource (Clingen) is being developed where investigators will design and implement a framework for evaluating which variants play a role in disease and finding those that are relevant to patient care. Those experts will in effect assign levels of confidence to the information of the various variants that are identified.

In closing, Collins said as well as all those project activities, the NIH is actively encouraging public input on the PMI. There is considerable public interest and several stakeholder meetings are in the works to allow for discussion on the PMI’s framework. If all goes to plan, the initiative will be officially launched at the beginning of October this year.