Obama's Precision Medicine Initiative.

On January 30, 2015, I had the great honor of attending the President’s announcement about the Precision Medicine Initiative in the East Room of the White House. Along with many hard-working, visionary luminaries in clinical science, informatics, advocacy, and policy, I listened with great enthusiasm to the fabulous announcement. It was clear from the introduction, given by Elana Simon, that the focus for this initiative will be people. Elana is a college freshman at Harvard University. So are about 2000 other young people. It was she who introduced President Obama on this special day because Elana is a ‘‘citizen scientist.’’ When she was 12 years old, she was diagnosed with fibrolamellar hepatocellular carcinoma, a rare liver cancer. When she was 15 years old, she took on this disease that she herself had beat. As a computer-literate adolescent, Elana thought she could put those skills to work, and as she outsurvived so many friends affected by this rare disease, she decided to do a genomic analysis of her cancer. Realizing that an obvious suspect, like an oncogene, was responsible, it would have been discovered, Elana went after the whole genome and RNA sequencing rather than just exome analysis. She consulted with several scientists and institutions—they were generous with their time and resources. This is a rare cancer, so samples were scarce and some institutions were not willing to share. So she fired up a plea using social media, found other patients through Facebook, and created a YouTube video asking patients to liberate their samples from the hospitals where they had their surgeries.* Elana and other patients with fibrolamellar found a single deletion in the DNA of one copy of chromosome 19 in every affected individual. She published a paper in Science (Honeyman et al., 2014). With her dad, Sanford Simon, a scientist at Rockefeller University, she has set up two clinical trials and created a blood test for the cancer. This is all remarkable, and meeting Elana and her family was one of the highlights of my experience at the White House. However, Elana’s experience represents an expression of the bigger message for the day: the intersection of participant engagement and precision medicine. In the beginning of her remarks, Elana specifically thanked the community of patients who had made this work possible. She said, ‘‘Patients contributed in different ways, including fund-raising, collecting patient data, donating tissue and by working in the lab.’’ President Obama clearly stated in his description of the Initiative that people would be participants in this new initiative. He acclaimed the patient rights’ advocates that we present as critical to the process. The National Institutes of Health (NIH) describes a central component of the effort this way (emphasis mine):