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Congress Must Clear the Bureaucratic Underbrush on the Journey to Life-Saving Genomic Medicine | Commentary

Fifteen years ago this week, two rival teams of scientists unveiled the sequencing of the human genome, the genetic map that details the DNA code that defines every human being.

The setting for the announcement was the East Room of the White House, where the explorers Meriwether Lewis and William Clark had shown President Thomas Jefferson the map from their expedition to the Northwest Territories, launching the new nation on its westward expansion.

In the tradition of Lewis and Clark, the leaders of the Human Genome Project charted new frontiers in human biology. These scientific pioneers were pointing the way to a new era of precision medicine that will enable patient treatments to be individualized based upon one’s inherited traits, potentially curing disease from cancer to diabetes.

Reverse-engineering the genome requires the rigorous use of data-management, computational and observational tools that only recently came into use — and are still improving.

That is why it is so important that, early this year, in yet another ceremony in the East Room, President Barack Obama announced a Precision Medicine Initiative to sequence the genomes of a million data donors. This endeavor will also expand the translational research activities of the National Institutes of Health and create interoperability standards for sharing genetic information and records.

These efforts are all steps in the right direction. But by themselves, they are not enough.

As the technical limits to genomic research recede, institutional barriers loom ominously on the horizon. Biomedical research is cramped by compartmentalization that wastes research dollars and slows the pace of discovery.

Many obstacles result from dated federal requirements, designed for an earlier era before “Big Data.” By taking steps to clear this regulatory underbrush, policymakers can hasten the development of cures for many diseases that are untreatable today, including 95 percent of rare diseases.

This project to sequence and analyze the genomes of a million donors will do much to spur innovation and build the nation’s genomic research infrastructure. But spending more on research is only part of the answer. Other reforms are needed to improve the productivity of research, starting with these three steps:

First, considering the prospective benefits of precision medicine, it’s time for Congress to reform privacy rules.

Under the Health Insurance Portability and Accountability Act of 1996 and the slew of supporting state and federal rules and statutes, health records are guarded almost as closely as military secrets.

Because of these rigid requirements, large-scale genomic studies can be conducted only in tightly controlled “need to know” environments, using encrypted, statistically de-identified data sets. Each use of data requires separate clearance, and in some cases, separate consent by each individual whose health data is being re-examined.

The consequences: Collaborative, multidisciplinary research has been discouraged. Scarce research dollars have been diverted toward lawyers and cyber-security. The cost of drug development has ballooned. And, worst of all, lives have been lost.

Congress and the administration should work together to address these issues head-on and suggest new ways for data donors to be assured of confidentiality that is reasonable but not so restrictive that it delays discoveries that will help millions suffering from what now are untreatable illnesses.

Second, we need to improve interoperability, so that researchers, health care institutions and other providers can share information and insights.

Current policies encourage data silos, not cooperation, when electronic health care records systems require users to purchase proprietary software.

When physicians in one hospital lack access to records developed in another, waste and duplication are the usual result. In some cases, it costs patients lives.

Interoperability has been a top-down process until now, with the federal government issuing rules and EHR vendors and their customers finding ways around them. These rules need to be strengthened.

The Precision Medicine Initiative empowers policymakers to reboot the system, with universally accessible EHRs. Congress also should look for ways to strengthen “bottom-up” market signals, such as giving patients co-ownership of their health care records, including their genetic results.

Third, public and private-sector policies should engage health care consumers — the ultimate sources of data.

Data donors should have access to basic information on the health implications of their genes along with periodic reviews to understand new findings. Also, employers might provide data donors with a discount on their health premiums, much as they do for participation in wellness programs.

Like explorers from Lewis and Clark to the present day, all Americans must explore their manifest destiny by participating in genomic medicine and experience the promise of miraculous cures and the elimination of many rare diseases.

Jonathan Sheldon is global vice president at Oracle’s Health Sciences.

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