Did you watch the Grammy’s last week? One highlight was the performance from Hamilton, the popular, new Broadway musical about America’s Founding Father Alexander Hamilton. Playwright Lin-Manuel Miranda says that Alexander Hamilton’s long speeches and run-on sentences made rap an excellent medium to tell the story. No one expected the revolutionary effectiveness of this musical, which smashes together American history with rap. If you like to plan ahead, check out the first available Hamilton tickets in 2018.
Big Data and healthcare likewise seem unlikely bedfellows, but they are on a collision course to smash together and revolutionize medicine. IBM reports that the global community creates 2.5 quintillion bytes of data daily, such that 90% of the world’s data has been generated in the past 2 years, much of it by everyday use of personal devices for social media and communication. Part of this data explosion is new healthcare-related Big Data. The human genome has about 3 billion base pairs, a large amount of data that can now be sequenced and stored quickly and cheaply. Modern healthcare research like the Cancer Genome Atlas project studies genomic details associated with certain cancers. DNA sequencing is also part of the active research for common diseases like diabetes and heart disease. All of this is made possible by management of Big Data.
The Precision Medicine Initiative
In January 2015 President Obama announced the Precision Medicine Initiative, described as a “new model of patient-powered research that promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge, and therapies to select which treatments will work best for which patients.” Precision Medicine is patient-powered in part because it utilizes personal data generated and submitted by patients. Diverse data sources for the delivery of Precision Medicine will include:
- Medical records (clinical EHR data)
- Personal genomic profiles
- Biophysical chemical make-up
- Individual microbiomes
- Environmental and lifestyle data
- Patient-generated data
- Pervasive sensor data
All of the Health Information Technology (HIT) infrastructure under construction during the past 10 years—from interoperability to patient portals—will be necessary to create big, individual healthcare data repositories. The Precision Medicine Initiative will require ongoing public and private partnerships.
A healthcare revolution
Today, vital genomic research is active in the private sector as well as at the National Institutes of Health (NIH). HIT has been accelerated by government incentives, but innovations and product delivery come from private-sector commercial providers.
Precision Medicine Big Data will also come from the creation of a “voluntary national research cohort” of at least 1 million Americans providing personal health and lifestyle data for study. This collision of Big Data management with a broad-spectrum of health data (HIT smashed together with clinical care) is a revolutionary way to do research.
Stated goals of the Precision Medicine healthcare revolution include:
- More and better cancer treatments, including establishing a national “cancer knowledge network”
- Creation of a voluntary, national-research cohort
- Commitment to protecting healthcare data privacy
- Regulatory modernization, including updating FDA evaluation of “Next Generation Sequencing” to make fast, but accurate and reliable gene testing available as quickly as possible
- Public-private partnerships specifically to create applications and services that enable individuals and families to manage personal healthcare data
The Precision Medicine Initiative announcement one year ago included funding for a diverse group of organizations that must work together. The $215 million investment includes $130 million for NIH, $70 million to the National Cancer Institute specifically for cancer genomic research, $10 million to the FDA to evolve the regulatory structure for database management, and $5 million to the Office of the National Coordinator for HIT to support development of secure healthcare data exchange.
Jo Handelsman, Associate Director for Science in the Office of Science and Technology Policy, provides some details about this initiative on the official website. She notes that knowledge about the impact of individual genes, environment, and lifestyle will “revolutionize how we improve health and treat disease.” Many parts of this effort are in place to move fast to yield healthcare benefits for everyone. For example, the IT infrastructure already exists to collect and analyze Big Data even for millions of individuals. While some aspects of Precision Medicine are advanced, others still need time for development. Some of the hard work still to be done includes:
- Managing health data privacy while sharing large data sets
- Data governance principles for access and use of big healthcare data
- Secure access and control of personal data for patients
- Oversight of data quality and integrity
Any failure of these may result in a loss of public trust in this new way of healthcare delivery.
In a similar effort across the pond, the United Kingdom is using Big Data from the UK Biobank to combine genomic, social, and traditional health data. This data from 500,000 volunteers will explore common diseases in the context of individual psychosocial and genetic environments.
From average to individual
In the Acumen blog post last week Terry mentioned Porter’s NEJM article and Ann O’Hare’s presentation about the shortcomings of clinical guidelines that address the “average” patient. The UK Biobank and the U.S. Precision Medicine Initiative will transition healthcare from the age of treatment goals for the average patient to treatment maximized for the specific individual patient.
Just imagine that each of us has 10 times as many personal microorganisms as human cells in our body creating our microbiome. Combine that with ~200 gigabytes of data that describes each human genome and we are already in Big Data territory without even downloading diet, fitness, and lifestyle data. Bringing together all of this data about the full human condition may revolutionize healthcare—making this smash up of Big Data and healthcare through Precision Medicine a first step toward true quality care for every individual, from you to me.
Dugan Maddux, MD, FACP, is the Vice President for CKD Initiatives for FMC-NA. Before her foray into the business side of medicine, Dr. Maddux spent 18 years practicing nephrology in Danville, Virginia. During this time, she and her husband, Dr. Frank Maddux, developed a nephrology-focused Electronic Health Record. She and Frank also developed Voice Expeditions, which features the Nephrology Oral History project, a collection of interviews of the early dialysis pioneers.