Regulating nutrigenetic tests: an international comparative analysis.

AuthorRies, Nola M.


In September 2007, the decoded genome of J. Craig Venter, a pioneering genetics researcher, was released to the world. (1) This achievement attracted worldwide media attention, with stories making the inevitable leap from the publication of one man's genome to the promise of personalized medicine for many. The Globe and Mail, a Canadian national newspaper, proclaimed: "Scientists have for the first time decoded the complete DNA sequences of a single human being, a mammoth feat that ... marks a historic step toward the era when medical care can be tailored to an individual's genes." (2) Remarkable advances in modern genetic research are revealing the genetic foundations of human traits, including genes that promote or protect against development of complex, common diseases. (3) As knowledge of genomics expands, patients/consumers, health care practitioners, firms that develop and sell genetic testing services and related products, and government policy-makers and regulators, all develop increasing interest in a field that may offer means to improve individual and public health.

The field of nutritional genomics is an area where "early results from the human genome project [are being translated] into publicly accessible applications." (4) Some nutrigenetic tests are currently available for consumers to purchase directly from a company or to obtain through a health care provider. Genetic test kits for home use--where a consumer collects a genetic sample at home and then mails it to a laboratory for analysis--raise several concerns: the consumer may not fully understand the test and the benefits and risks of learning the results; the consumer may conduct the test incorrectly and submit a sample and information that are inaccurate; and the consumer may not receive adequate interpretation and follow-up regarding the results and any recommended future action. (5) Consequently, the hazards associated with genetic testing include "potential physical, medical, psychological, and social and economic risks to individuals being tested and to members of their families." (6) Benefits, in contrast, include the ability to take steps to mitigate known disease risks, tailor treatment options or gain peace of mind. Concerns associated with genetic tests, particularly when marketed directly to consumers, have attracted much attention by governmental bodies, (7) "watchdog" agencies, (8) and academic commentators. (9)

Regulation of genetic tests--and, for that matter, all medical devices--depends on the intended use and risks. Factors relevant to assessing risks involved in genetic testing include whether: the test is diagnostic or predictive; the disease is rare or common; the genetic mutation is of high or low penetrance; interventions are available for individuals who have a genetic predisposition; and affected individuals or groups will be exposed to stigmatization or discrimination. (10) The mode of delivery of the test is also relevant: tests marketed for home use are typically viewed as posing greater risks than tests available only through a health care intermediary.

To date, most concerns expressed about nutrigenetic tests do not focus on medical, psychological and social risks, but rest on the view that nutrigenomic science is still too premature to offer clinically useful information and advice to consumers. Trujillo and colleagues note: "Although unprecedented opportunities exist for the expanded use of foods and bioactive food components to achieve genetic potential, increase productivity, and decrease risk of disease, the science to make such decisions has not reached a level of confidence to achieve personalized nutrition recommendations." (11) Arab contends: "The information needed to individualize recommendations is largely unavailable for most nutrients." (12) The immediate risk in nutrigenetic testing, then, is primarily economic: consumers who purchase nutrigenetic tests are wasting their money.

At present, available evidence suggests that public demand for nutrigenetic testing is low; a 2006 United States survey found that only 14% of respondents were aware of nutrigenetic tests (with higher awareness for other types of genetic tests, such as genetic screening in pregnancy) and only a handful (29 individuals, comprising 4% of the sample) had used a nutrigenetic test. (13) While current awareness and use is low, it is nonetheless argued that "the emerging field badly needs a regulatory framework that will stop its first customers from being scared off." (14)

What is the current regulatory framework for genetic testing services and what issues raise concern for consumer access and protection in regard to nutrigenetic tests? "There is a misperception that nutrigenomic services are not regulated at all, but in truth the problem is far more complicated." (15) To offer some clarification, this paper reviews the current state of regulation of genetic testing services in the United States, Australia and Canada, including statutory provisions and policy guidance pertaining to use and advertising of tests, particularly in the context of direct-to-consumer (DTC) access. The United States and Australia were selected for comparative analysis with Canada as nutrigenomics has received recent regulatory attention in these countries. In July 2006, a U.S. Government Accountability Office report (16) scrutinized the legitimacy of nutrigenetic testing practices by several companies operating in that country and the Australian government, as part of wider efforts to modernize medical device regulation, has issued specific guidance related to nutrigenetic testing. (17) Nutrigenomics has also received attention in the United Kingdom, (18) but experiences in that country are not discussed here as Stuart Hogarth addresses them in another article in this volume.

International Regulatory Comparison

United States

In the United States, two statutes are applicable to oversight of genetic testing: the Clinical Laboratory Improvement Amendments (CLIA) (19) and the Food, Drug, and Cosmetic Act (FDCA), (20) and corresponding regulations. (21) This discussion focuses on federal regulatory rules, although it is important to note that some states have enacted legislation relevant to genetic testing. (22)

Under CLIA, all laboratories that examine human specimens for the diagnosis, prevention, or treatment of disease or assessment of health must meet certain standards related to laboratory procedures, personnel qualifications, quality control/assurance and proficiency that depend on the complexity of the test. (23) Genetic tests are classified as high complexity, as they require a high degree of skill to perform or interpret. (24) Laboratories that perform high complexity tests must undergo periodic proficiency testing to demonstrate their ability to accurately perform the test and interpret the results. However, with the exception of cytogenetic tests, proficiency testing standards specific to genetic testing have not been set, despite a 2000 Notice of Intent (25) from the Centers for Disease Control and Prevention that suggested standards were forthcoming. (26)

A genetic testing specialty under CLIA and specialized proficiency standards are unlikely in the foreseeable future as the Department of Health and Human Services recently rejected a petition seeking these changes. In explaining its decision, the Department stated that the petition did

... not establish an adequate basis to support the agency conducting rulemaking to create a new genetic specialty. At this time, the agency finds that a cost benefit analysis of additional rulemaking compared to the continued application of current regulations, including current regulations for quality control which apply to moderate and highly complex testing that characterizes almost all genetic tests, favors continued application of the current regulations. (27) The lack of a genetic testing specialty under CLIA has been identified as a regulatory gap that must be filled if consumers are to accurately assess whether a genetic test will provide scientifically valid and meaningful information. (28) To date, the oversight of genetic testing has instead focused on intra-laboratory processes as opposed to the clinical uses of the test results themselves (29) and a laboratory engaged in genetic testing is left to determine independently its proficiency level, with no specific requirements or unique standards. (30)

Under the FDCA, the Food and Drug Administration (FDA) exercises regulatory oversight of genetic tests. However, not all genetic tests clearly fall within the FDA's authority and it has reviewed only a handful of all the commercial genetic tests currently available for over 1000 conditions. (31) Genetic tests that are sold as a unit by a manufacturer to a laboratory, doctor, or hospital, also known as "test kits", are regulated as in vitro diagnostic devices (IVDs) under the FDCA. (32) IVDs are subject to an FDA clearance and approval assessment, with the exact process depending on whether the device is characterized as a class I, II or III device, with increasingly stringent standards the higher the class.

However, most genetic tests are not marketed as test kits, but rather as laboratory services, or "home-brew" tests. "Home-brew" tests are ones in which the individual test components are purchased individually or developed by the laboratory itself, and assembled and carried out in the laboratory. The FDA vacillates in its assertion of jurisdiction over home-brew tests; to the extent it has enforcement jurisdiction, it has elected not to exercise it. (33) The lack of oversight over home-brew tests has been identified as a gap in regulation of genetic testing. The FDA, however, does assert some jurisdiction over home-brew tests by regulating analyte specific reagents (ASRs), which are essentially the building blocks of laboratory-developed tests. Specific regulations and...

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