Pew Funds Genetics and Public Policy Center's New Consumer Genetics Project

The Pew Charitable Trust has awarded $750,000 to the Genetics and Public Policy Center for a new project focused on consumer protections for applications of genetic testing.

The Consumer Genetics Project takes aim at a new issue area for the Center, incorporation of genetic testing information into drug labeling. The Project also focuses on continuing work in two areas, truth of claims made by genetic testing companies, and genetic discrimination.

“The Center's work on these issues to date has been aggressive and successful, but the technology and business environments for genetic testing have changed dramatically, creating new opportunities for protecting the consumer public and ensuring genetic testing quality,” explains Center Director Kathy Hudson. “While we will need to continue efforts to ensure that needed and now widely endorsed regulatory reforms are implemented to ensure tests' accuracy and validity, new measures are needed to protect consumers from harm and to reap the benefits of genetic testing.”

For example, she notes, adverse reactions and failure to respond properly to pharmaceuticals pose significant challenges for patient care. Adverse drug reactions are responsible for more than two million hospitalizations every year and more than 100,000 fatalities, making them the fourth leading cause of death in the United States. An estimated $1.5-4 billion is spent each year on hospitalizations associated with adverse drug reactions.

Drawing on the tools and technologies that emerged from the Human Genome Project, researchers are identifying genetic variants that affect how individuals respond to pharmaceuticals. This has led to great optimism among numerous stakeholders—including pharmaceutical companies, physicians, payers, and patient advocacy groups—that pharmacogenetic information will substantially improve the safety and effectiveness of drugs, leading to fewer adverse events, improved patient outcomes, and reduced health care costs. Proponents of personalized medicine posit that, armed with pharmacogenetic data, physicians will be able to get the “right drug to the right patient at the right time.”

To date, however, there have been few examples of pharmacogenetic information being translated successfully into clinical care. Moreover, our preliminary research reveals that, even where pharmacogenetic data support a change in clinical practice that would increase drug safety and/or effectiveness, there is significant variability in whether that information reaches physicians in a timely fashion and in a way that leads to a change in practice and improved patient care. While the Food and Drug Administration (FDA) has issued guidance documents indicating that it appreciates the significant potential value of pharmacogenetics to foster its mission of protecting public health, the agency has not developed a clear and consistent regulatory pathway to support the timely and effective integration of pharmacogenetic data into drug labels.

“We are evaluating the amount of evidence required by FDA to support labeling changes, the amount of time required to implement such changes, and the clarity of communication about the implications of the information for clinical care,” according to Gail Javitt, the Center's law and policy director. While FDA has a clearly defined role in determining the efficacy and safety of drugs on the market, she says, the agency does not have a clear role in the regulation of genetic tests. Most genetic tests are not reviewed by FDA or any other third party to ensure their clinical validity. “FDA's lack of involvement makes it difficult for anyone to determine whether pharmacogenetic claims made by those offering genetic tests are accurate,” Javitt says.

Similarly, the Center has established in previous work that consumers who order tests directly from genetic testing companies (rather than through their health providers) face a welter of confusing state laws regarding who may order and receive genetic tests, and what standards are in place to monitor genetic testing companies.

With respect to truth in advertising about genetic testing claims, the Center discovered in earlier work that “companies are making scientifically unsupportable claims and consumers are putting their health as well as their pocketbooks at risk,” Javitt notes. “While the Federal Trade Commission (FTC) has the authority to take action to protect the public against false and misleading advertising, it has taken no action to date on advertising claims about genetic tests.”

This initiative, based on a pilot study published by the Center in Science magazine that compared claims made about genetic testing to the scientific evidence, will support additional policy-relevant data collection and analyses to inform the public, encourage companies to more closely match their advertising to truth, and may provide evidence to support heightened attention from the FTC.

Lastly, the CGP will continue the Center's work that led to passage in 2008 of the Genetic Information Nondiscrimination Act (GINA). Hailed on the Senate floor as “the first major new civil rights bill of the new century,” GINA is a critical and welcome assurance to consumers that their genetic information will not be used against them, according to Susannah Baruch, law and policy director for the Center. “But a considerable amount of work is necessary to ensure that GINA is appropriately implemented and enforced, and to examine genetic discrimination issues that remain,” she says. The Center will examine policy options for areas not covered by GINA, such as discrimination in life insurance, long-term care insurance, and disability insurance markets; privacy of genetic information; and surreptitious testing.

The Pew Charitable Trusts established the Genetics and Public Policy Center in 2002 with an initial $10 million grant to Johns Hopkins University.

Pew is no longer active in this line of work, but for more information, visit the Genetics & Public Policy Center Web site or visit the Genetics and Public Policy Centeron PewHealth.org.