Thursday, August 6, 2015

2015 White Paper: Building the Genomics Infrastructure

In late July, the Center for Data Innovation and the Health IT NOW coalition released an insightful ten page white paper, "From Evolution to Revolution: Building the 21st Century Genomic Infrastructure."

In the last few days I've heard a half-dozen different individuals or organizations raise thoughts along these lines, so the white paper must be capturing the Zeitgeist.

Links to the press release, here - and to the actual white paper, here.

Press release quoted after the break.

Support for the December 2014 conference on which the report is based came from Oracle, IBM, INtel and PhRMA; with special call-outs to authors from Vanderbilt University and the New York Genome Center.

A comment from John Graham of the National Center for Policy Analysis, here or at Forbes here.

The Press Release states:

Health IT Now and Center for Data Innovation Release White Paper on 21st Century Genomic Infrastructure
WASHINGTON, D.C. (July 23, 2015)  – Today, the Health IT Now Coalition and the Center for Data Innovation released a white paper on genomics. The paper, titled “From Evolution to Revolution: Building the 21st Century Genomic Infrastructure,” provides recommendations to policy makers regarding the Administration’s Precision Medicine Initiative (PMI). The PMI aims to accelerate our understanding of how individual genetic, environmental, and lifestyle variability affects disease by developing an extensive research cohort of one million or more participants who volunteer their personal health data. As the government gears up the Initiative, the white paper will serve as a timely guide for decision makers to consult as they establish the foundation for the future of precision medicine. The white paper makes the following recommendations:
1. Improve interoperability and data sharing for all health data. Congress needs to address the compartmentalization caused by incompatible health record systems through a combination of stronger “top-down” interoperability requirements, such as EHR certification, as well as consumer-driven, “bottom-up” reforms that will give patients (and their doctors) real-time access to their health records in a compatible format.
2. Ensure patients and the private sector are actively engaged. Precision medicine will only be realized if patients are continuously engaged in donating their data; this will require extensive education and ongoing communication between participants and researchers. Furthermore, the private sector has proven solutions that are currently in place; the Administration should leverage that knowledge and those relationships and put them to work.
3. Reevaluate current privacy and consent laws to account for modern scientific and technological advances. Once thought to be a cost-free way to moot fears about medical snooping, today’s privacy laws pose a particular challenge to the big-data analytic techniques needed to sift through, and find patterns in, many trillions of data points. Notably, penalties under HIPAA are not based on actual harms done, but, rather, on the number of records compromised. Precautionary measures not only divert scarce research dollars toward cyber-security, but the ensuing secrecy and compartmentalization discourages the types of multidisciplinary research most likely to yield results in studies of this size and scope.
In releasing the white paper, Joel White, Executive Director of the Health IT Now Coalition, issued the following statement:
“Today’s cumbersome health care system is being surpassed by an ever-evolving society of technology and innovation. The president’s Precision Medicine Initiative aims to collect genomic and clinical data from more than one million volunteers. In order to make full use of this information and taxpayer dollars that are funding the Initiative, we need a functional and broad-based data-sharing model that can only be reached through cooperation of both private and public sectors. The white paper released today recognizes the promise of precision medicine and the need for sound policy that enables interoperable information exchange while maintaining the privacy of participants. It is time to maximize the significant strides that have already been made in the scientific and technical infrastructures in our country and advance regulatory policies to reflect that progress.”
Daniel Castro, Director of the Center for Data Innovation, echoed this sentiment:
“There is perhaps no sector where the social and economic benefits of data-driven innovation are more transformative or more impactful than in health care. We are rapidly approaching an era when it is feasible for all health care decisions to factor in a patient’s individual genomic data to improve health care outcomes, but technical and regulatory barriers limit this potentially life-saving progress. And without action from the Administration or Congress, these limits will only become more damaging. The Precision Medicine Initiative is an incredibly promising step in the right direction to overcoming these challenges, providing researchers with the wealth of data they need and implementing new models for health data sharing. This white paper offers solutions to policymakers seeking to further develop a modern health data framework that can capitalize on the potential for the free flow of health data to develop new drugs and treatments for some of humanities most devastating diseases, generate new insights into human health, and save lives.”
Jonathan Sheldon, global vice president of Healthcare, Oracle Health Sciences, stated:
“Over the past five years, Oracle has worked extensively with leading institutions, such as UPMC and Penn Medicine, to help advance the realization of precision medicine. With input from these organizations, Oracle continues to enhance its healthcare platform that delivers genomics into clinical care. To maximize the broad potential clinical ramifications of genome sequencing requires the rigorous use of data-management, computational systems and observational tools that are still quite novel; and some that have yet to be invented. Public policy around privacy and data security must evolve to support broad scale implementation of the technical infrastructure necessary to bring precision medicine to the masses. We hope this whitepaper encourages dialogue, and we look forward to working with the public sector to usher in a new era of data and analytics-driven personalized healthcare and cost effective outcomes.”
The paper is the product of a data-driven medicine conference, held in Washington, DC in December 2014. As the National Institutes of Health works on a PMI implementation plan, due to the president in September, the white paper stresses the need for active public-private partnerships in the development of precision medicine. To that end, Health IT Now and the Center for Data Innovation held a Capitol Hill briefing today to highlight key areas where innovation in the private and research sectors are already occurring and how further actions from Congress, the Administration, and the private sector can remove the obstacles on the path towards precision medicine.
The white paper is available at and at
The Health IT Now Coalition promotes the rapid deployment of heath information technology. Health IT will benefit patients and health care consumers while supporting health practitioners to make smart decisions about patient care while promoting efficiency. For more information,
The Center for Data Innovation is the leading think tank studying the intersection of data, technology, and public policy. Based in Washington, DC, the Center formulates and promotes pragmatic public policies designed to maximize the benefits of data-driven innovation in the public and private sectors. It educates policymakers and the public about the opportunities and challenges associated with data, as well as technology trends such as predictive analytics, open data, cloud computing, and the Internet of Things. The Center is a non-profit, non-partisan research institute proudly affiliated with the Information Technology and Innovation Foundation.