Policy & Projections

Illustration: Roger Schillerstrom

In May, President Bush signed into law the Genetic Information Nondiscrimination Act (GINA), prohibiting employment and insurance discrimination based on an individual’s genetic information. Now, a growing number of scientists, academics, and lawmakers are urging stricter regulation of the genetic testing industry, especially manufacturers and distributors of increasingly popular direct-to-consumer (DTC) testing kits.

“Today, there is no mechanism to ensure that genetic tests are supported by adequate evidence before they are marketed,” said Kathy Hudson, PhD, director of the Genetics and Public Policy Center at Johns Hopkins University. Misleading test claims may direct patients and healthcare providers into making inappropriate and even damaging decisions, she and two colleagues wrote in a recent commentary in Science.

Advances in technology are making genetic tests cheaper and faster. Upwards of 1,400 genetic tests are currently available to detect suspected predispositions to such serious conditions as cancer, heart disease, and diabetes as well to lifestyle-related conditions, including “nervous eating,” fat regulation, and lactose intolerance.

The problem is that the ability of most of these tests to determine significant risk or non-risk has not been determined. The link between certain genes and a specific condition is often tenuous and can be influenced by diet, exercise, family history as well as by the presence (or absence) of other gene variants. In many cases, DTC genetic test findings could not be independently confirmed, calling their accuracy and reliability into question. “Some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation,” said the US Food and Drug Administration (FDA), Federal Trade Commission, and Centers for Disease Control and Prevention in a joint consumer alert in 2006.

Companies marketing DTC genetic tests and related services are loosely-regulated, if at all. They range from established organizations to virtual companies and storefronts offering genetic tests for specific diseases as well as full genomic scans for fees ranging from hundreds to many thousands of dollars.

Iceland’s DeCode Genetics Inc. (Reykjavík) is marketing five genetic tests, including one for $300 that looks for the TCF7L2 transcription protein variant implicated in a (moderately) higher risk of Type 2 diabetes. Another DeCode test detects versions of two SNPs linked to greater risk of atrial fibrillation, a major cause of stroke. Among the smaller and less well-known companies is one offering a nutrigenomic test to determine a person’s predisposition to caffeine metabolism. Another looks for the “sweet tooth gene” while offering weight loss supplements.

While some genetic tests may blur the line between sham science and pharmacogenomics, others are clearly useful for predicting drug response. Last year, seven drug makers and academic institutions established a consortium to look for genetic markers of adverse reactions. Also, in 2007, the FDA advised patients taking the blood thinner warfarin to have genetic tests to determine dosing sensitivity. The presence of HER2-positive breast cancer has been found to be a predictor for responssiveness to Genentech’s Herceptin. A mutated form of the K-ras gene is a predictor for responsiveness to ImClone System’s Erbitux for colon cancer.

Personalized health care “will give us the ability to deliver the right treatment to the right patient at the right time—every time,” declared Michael O. Leavitt, secretary of the Department of Health and Human Services (HHS), in announcing a Federal “Personalized Health Care” initiative in March 2007.

Genetic testing “is our chance to transform medicine from ‘one-size-fits-all’ to a potentially personalized approach,” said Francis Collins, MD, PhD, outgoing director of the National Human Genome Research Institute. “Already, healthcare providers can test whether some of us carry DNA variants that predispose us to certain diseases, and new research efforts could help to expand this capability and possibly offer better opportunities for preventive measures,” Collins told Congress in 2007.

Currently, government regulation of genetic testing hinges on whether a laboratory uses its own chemicals and formulations or whether it uses pre-manufactured, in vitro diagnostic devices. Most laboratory-developed tests (LDTs) are not subject to FDA oversight. And while FDA does regulate manufactured test kits as medical devices, laboratories using them do not have to demonstrate their clinical validity to obtain government certification under CLIA (Clinical Laboratory Improvement Amendments of 1988).

Many say that the FDA needs to be given authority to oversee the scientific accuracy and safety of products marketed as predictive genomic tests. Two bills introduced in Congress in 2007 would do just that. One bill (S 976), introduced by Sen. Barrack Obama (D-Ill.), would encourage government collaboration and research into personalized medicine while exploring the need for greater Federal oversight and regulation. The other (S 736), introduced by Sen. Edward Kennedy (D-Mass.), would make genetic tests available only by prescription. Neither bill has advanced past the committee stage.
There are signs that greater government oversight is forthcoming. Already, 24 states prohibit or limit DTC genetic testing without a doctor or other medical professional’s involvement. In April, the HHS Advisory Committee on Genetics, Health and Society recommended that the FDA “should address all laboratory tests, regardless of how they are produced (i.e., as a commercial test kit or laboratory-developed test), in a manner that takes advantage of its current experience.”

More specifically, the advisory committee recommended that “FDA’s risk-based regulatory authority and regulatory processes should be expanded to encompass the full range of health-related tests, including those offered directly to consumers.” In addition, the committee recommended creating a mandatory registry to which data about every genetic and laboratory test would be maintained as well as a “public/private entity” responsible for developing criteria for assessing the clinical utility of genetic tests.

In a statement on DTC genetic testing, the American College of Medical Genetics in April recommended that test providers disclose the scientific evidence upon which a test is based and explain fully what the test can and cannot determine about a person’s health. Clinical testing labs must be accredited and knowledgeable professionals must be involved in the process of ordering and interpreting a genetic test, the group said.

Others are more direct about the need for government oversight. “Without regulation, the commercial marketing of inaccurate or medically-irrelevant, genomic self-testing may do much more damage than the specter of genetic discrimination that led to GINA,” said Kenneth Offit, MD, chief of the clinical genetics service at the Memorial Sloan-Kettering Cancer Center, and Harry Ostrer, MD, director of the human genetics program at New York University’s Langone Medical Center, in an opinion column in the Washington Post..

About the Author
Contributing editor Ted Agres, MBA, is a veteran science writer in Washington, DC. He writes frequently about the policy, politics, and business aspects of life sciences.

This article was published in Drug Discovery & Development magazine: Vol. 11, No. 7, July, 2008, pp. 10-11.