Everyone is different. So why would our treatments be the same? To improve disease prevention and treatment, we need to do more to account for variations in our genes, lifestyles and environments.
That's the rationale for the Precision Medicine Initiative (PMI), which was launched to provide the scientific evidence needed to make individualized treatment a more routine part of the care that patients can expect from their healthcare team. Announced in January 2015, PMI is a $215 million1 effort to help usher in "a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together to develop individualized care.2
At the core of the PMI is gaining the knowledge to move medicine away from “one-size-fits-all” treatments.3 The PMI effort will also help develop new ways to test for risks of disease development, disease progress and disease modification under treatment, as well as revealing targets for those treatments and possible ways to prevent disease from occurring.4
For example, some rare diseases like Tay-Sachs already have a screening blood test and others use biomarkers to help predict treatment outcomes, like the ability to correlate better clinical results and quality life with reduced levels of glycosaminoglycans in mucopolysaccharidosis disorders.5 However, many illnesses do not have simple blood tests to reveal such information. PMI aims to unlock their biological secrets and launch a new era in improved health. < link="" to="" hub="" personalized="" medicine="" story="">.
As part of this initiative, the National Institutes of Health (NIH) has developed the PMI Cohort Program, which plans to collect data from one million or more U.S. volunteers.6 They will be recruited to reflect the U.S. population's social, racial/ethnic, ancestral, geographic and socioeconomic diversity.
While PMI will target common diseases like diabetes and cancer, it covers mental health and rare diseases, too.7 Of note, the PMI will also collect data to better understand how to increase the odds of staying healthy throughout life. Together, these data sets will need to connect, which will create challenges for both storage and analysis, so addressing data infrastructure also is part of PMI.8
Additionally, the National Cancer Institute at NIH will be expanding its use of precision medicine in clinical trials, to evaluate mechanisms of drug resistance, develop novel pre-clinical models9 and build a system that integrates and stores genomic information about tumors annotated with clinical information, including response and patient outcomes information.10 These NIH efforts, like other areas of the PMI, include protocols to safeguard patient privacy and data.11
Meanwhile, the Food and Drug Administration (FDA) is creating new approaches to evaluate next-generation genomic sequencing (NGS) technologies.12 Via precisionFDA, launched in December 2015, a crowd-sourced, cloud-based platform enables the community to test, develop and validate NGS software and methods.13
The future of medicine is precision medicine, to a large extent. It’s health care tailored to each of us, and it promises to transform health outcomes as researchers, policy makers, and patients work together to make “one size fits all” care a thing of the past.
http://www.nih.gov/sites/default/files/research-training/initiatives/pmi/pmi-working-group-report-20150917-2.pdf page 67.
https://www.whitehouse.gov/precision-medicine Guiding Principles Protecting Privacy; Draft Data Security