New Developments for Precision Medicine Initiative

In an exciting update, NIH Director Francis Collins announced last week that the Precision Medicine Initiative (PMI) is now entering the implementation phase, with a clear and visionary first goal:  creating a one-million-member strong "research cohort" within 3-4 years. Voluntary enrollment is slated to begin in 2016.

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Slide from an NCI Stakeholders Briefing on the PMI Report, 9.25.15

The just-released PMI Working Group report (PDF) describes detailed design plans, which includes recommendations on the cohort's formation, engagement of participants, collection of data and specimens, and more. The Working Group recommends that the cohort be made up of volunteer participants from all life stages, including this special note about children:

The Working Group gave special consideration to including children [and select others]. There are scientific, ethical and policies issues surrounding these populations that warrant further discussion. Therefore, the Working Group recommends that NIH consider the safeguards necessary to ensure the appropriate enrollment, retention, and protection of these groups into the PMI cohort.

The million+ volunteers in the cohort will agree to share their electronic health records, take surveys on lifestyle habits and environmental exposures, undergo a baseline exam, and provide a blood sample. In return, participants will have access to the study's findings (both individual and aggregate) and will be provided with "tools to make sense of the results." [Press Release, 9.17.15] Dr. Collins has repeatedly emphasized that although genomics will play a large role, it is not solely a genomics project: "This is a project on health. This is trying to understand all of the factors that play out in health or disease."

Slide from an NCI Stakeholders Briefing on the PMI Report, 9.25.15

Precision Medicine & Children with Cancer:

Precision medicine - the potential to deliver the right treatment at the right time, every time - aligns with our mission of achieving less toxic and more effective therapies for children with cancer. We're seeing early promise from analyzing the genomic profile of children with cancer and tailoring treatment to match the molecular make-up of their tumors.

JAMAIn a study published earlier this month in JAMA, researchers analyzed the genetic material of 91 children and young adults with refractory, relapsed, and rare cancers and discovered “potentially actionable findings” in 23 cases (25%). In some cases, the discovery of a genetic mutation led doctors to change the course of therapy. Two young patients even had their diagnoses altered after the discovery of previously unknown chromosomal abnormalities.

These findings "strongly suggest that precision medicine enhanced by genetic evaluation may improve the outcomes of children with cancer," according to the authors. The study "represents an important contribution to the care of children with cancer. It makes clear that approaches that are rapidly evolving in adults are applicable to the care of children with cancer."

Challenges for a Unique Population:

"We've known now for several years that the mutations in pediatric cancers are much more rare than they are in adult tumors... Neuroblastoma has the lowest mutation rate. That means it's going to be the hardest to find mutations that we can have actionable drugs for. But we need to look, and we need to look a lot harder than we have so far." - Lee Helman, MD

The keynote speaker at the 6th Annual Childhood Cancer Summit on September 18th was Dr. Lee Helman, the Acting Director of NCI's Center for Cancer Research. Dr. Helman discussed precision medicine and the Pediatric MATCH Trial, slated to launch next year. He also outlined the following personalized medicine challenges that are unique to pediatric cancers, as seen in the slide below.

LeeHelman_Summit_PMI Challenges

The Children's Cause will continue to engage with policymakers and other stakeholders to seek solutions to these challenges and ensure that children with cancer continue to benefit from advances in precision medicine during this exciting time of scientific discovery.

More on PMI: The Precision Medicine Initiative was first announced by President Obama in January at his State of the Union address. The president's FY2016 budget includes $215 million for PMI, with $130 million of that total allocated to NIH to build the research cohort. Learn more here.