Who regulates genetic tests?

“ February 27, 2006 - Like other diagnostic laboratory tests, genetic tests are subject to some federal regulatory oversight. Currently there is no uniform or comprehensive system to assess the analytic and clinical validity of tests before they are offered to patients, and there
are no laboratory standards that specifically address molecular genetic testing or require uniform proficiency testing procedures for them.

The accuracy and reliability of genetic testing is dependent on two things. First, the test must consistently over time get the "right answer" as to whether a specific gene mutation is present or absent. The ability of a test to do this is termed "analytic validity." Second, the test result must correlate with the presence or absence of a specific disease, or heightened risk of disease, in a patient. This is termed "clinical validity." The analytical and clinical validity of a test depend on the intrinsic properties of the test and on the abilities of the laboratories performing the test. The Department of Health and Human Services (DHHS) agencies involved in current genetic testing oversight include: The Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA), the Centers for Disease Control
(CDC), and the Office for Human Research Protections. Currently, three statutory and regulatory mechanisms, which all fall under the purview of agencies within the DHHS, govern genetic tests: The Clinical Laboratory Improvement Amendments of 1988 (CLIA), the Federal Food, Drug and Cosmetic Act and other regulations for protecting human subjects of research. “

http://www.dnapolicy.org/news.enews.article.nocategory.php?action=detail&newsletter_id=13&article_id=34

“ Although direct-to-consumer (DTC) advertisements for pharmaceuticals have been appearing in the mass media for 20 years, DTC advertisements for genetic testing have only recently appeared. Advertisements for genetic testing can provide both consumers and physicians with information about test availability in an expanding market. However, 3 factors limit the value and appropriateness of advertisements: complex information, a complicated social context surrounding genetics, and a lack of consensus about the clinical utility of some tests. Consideration of several advertisements suggests that they overstate the value of genetic testing for consumers' clinical care. Furthermore, advertisements may provide misinformation about genetics, exaggerate consumers' risks, endorse a deterministic relationship between genes and disease, and reinforce associations between diseases and ethnic groups. Advertising motivated by factors other than evidence of the clinical value of genetic tests can manipulate consumers' behavior by exploiting their fears and worries. At this time, DTC advertisements are inappropriate, given the public's limited sophistication regarding genetics and the lack of comprehensive premarket review of tests or oversight of advertisement content. Existing Federal Trade Commission and Food and Drug Administration regulations for other types of health-related advertising should be applied to advertisements for genetic tests.”

 

http://jama.ama-assn.org/cgi/content/abstract/288/14/1762?ijkey=6a9077d860947421af68886d9e73dcf2330c2c08&keytype2=tf_ipsecsha

DTC for Inherited Breast and Ovarian Cancer Risk

“DTC advertising of prescription medications and medical tests have proliferated during the past decade. Advocates of DTC advertising argue that it can play an important role in improving the public's health by educating consumers about health conditions and increasing the public's use of appropriate medications and treatments. Opponents, however, believe that DTC advertising leads to misconceptions about the health benefits of tests and medicines among consumers) and results in the use of more expensive, but not necessarily more effective, drugs and tests”

http://www.cdc.gov/genomics/activities/ogdp/2005/chap04.htm

“Breast and ovarian cancer are the second and fifth leading causes of cancer death, respectively, among women in the United States . One in eight women will have breast cancer during their lifetimes, and one in 70 will have ovarian cancer. Mutations in two genes, BRCA1 and BRCA2 (BRCA1/2), are associated with predisposition for inherited breast and ovarian cancer and are identified in 5%--10% of women with breast or ovarian cancer (BOC) Since 1996, genetic testing for these mutations has been available clinically; however, population-based screening is not recommended because of the complexity of test interpretation and limited data on clinical validity and utility. Despite the test's limited applicability in the general population, the U.S. provider of clinical BRCA1/2 testing (Myriad Genetic Laboratories, Inc., Salt Lake City, Utah) conducted a pilot direct-to-consumer (DTC) marketing campaign in two cities (Atlanta, Georgia, and Denver, Colorado) during September 2002--February 2003. Although DTC advertisements have been used to raise consumer awareness about pharmaceuticals, this was the first time an established genetic test was marketed to the public. To assess the impact of the campaign on consumer behaviors and health-care provider practices, CDC and the respective state health departments for the pilot cities and two comparison cities (Raleigh-Durham, North Carolina, and Seattle, Washington) surveyed consumers and providers. This report summarizes results of those surveys….”

http://www.cdc.gov/MMWR/preview/mmwrhtml/mm5327a1.htm

“BREAST CANCER runs in my family. My mother... my grandmother... my dad's sisters... I wondered if it would be... inevitable. I found out that it didn't have to be. I found out my risk through BRCAnalysis... BRCAnalysis can help you see the big picture, so that you can take steps to reduce your risk." 1 Advertisements like this challenge us to critically examine the emerging role of genetics in medicine and our duties as health care providers.”

http://jco.ascopubs.org/cgi/content/full/21/17/3191?ck=nck.html

What is Direct to Consumer genetic Testing?

“Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person's genetic information without necessarily involving a doctor or insurance company in the process.”

http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer.html

“From a Good Housekeeping magazine article to a Consumer Reports on Health special report, direct-to-consumer genetic testing (DTC) has figured prominently in the media coverage of human genetic technology this spring. Many of the articles have highlighted the difficulties faced by consumers in trying to assess the quality and legitimacy of the tests and
the claims made by the various companies.”

www.dnapolicy.org/news.enews.article.nocategory.php?action=detail&newsletter_id=13&article_id=34

“Gene test companies and some consumer groups hope to empower individuals by providing direct access to genetic information. Other consumer advocates worry that people may waste their money on tests that have not yet been proven reliable or accurate. Health advocates are concerned that consumers may make poor health decisions based on test results and without benefit of genetic counseling or other medical advice.”

http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=32

“Many genetic testing laboratories have begun to market their tests directly to consumers through print and television advertisements. While this may increase public awareness about the availability of genetic tests, there may also be some risks in adopting this strategy. For instance, some advertisements might not successfully reach at-risk individuals or accurately convey the limitations of genetic testing.”

http://www.genome.gov/12010659

American College of Medical Genetics Position Statement

http://www.genome.gov/search.cfm