Is Knowledge Power? Direct-to-Consumer Genetic Testingby Jennifer Gibson, PharmD | October 31, 2009
The completion of the sequencing of the human genome in 2003 was an outstanding scientific accomplishment. This achievement, together with advances in technology and the forces of capitalism and competition, has brought genetic testing directly to the consumer. However, this Pandora’s box is proving difficult to manage for many people.
Direct-to-consumer (DTC) genetic tests are marketed to consumers primarily through the Internet. Consumers are motivated by education, recreation, and preventive health care, but the answers obtained from the tests do not necessarily provide meaningful information. Researchers are still learning about the implications of certain genes and how they relate to disease risk and development, and the value of the genetic information is still unclear. Further, new surveys are reporting that physicians are not confident to interpret the results of DTC testing. The clinical relevance is in doubt and physicians are often not prepared for patients who show up with genetic test results in hand.
People most certainly have the right to information regarding their own health, including their genome sequence, and people should be proactive in making informed health decisions. But, are DTC genetic tests helpful in making these decisions? DTC companies offer testing for everything from genetic markers and mutations to entire genome-wide associations. An individual can find out if he or she has a genetic variation that predisposes him or her to a certain type of cancer. A man can find out if he will inherit a specific disease that has affected another family member, or a woman can evaluate her genome to choose the best diet or cosmetic products. Families can uncover relationships with royalty or determine ethnic backgrounds. Some of these motivations are harmless, and have been termed “recreational genomics,” but what are the implications of tests that claim to make associations between genetics and health? What if they are wrong? Who will have access to the results?
Consumers need to be aware of the risks of obtaining too much information, particularly from companies or laboratories that are unregulated or unaccredited by any governing body. These types of genetic tests may have a high occurrence of false positives or false negatives. Patients should not be lured into a sense of security by having a “low risk” for certain diseases according to the test results. Also, genetic testing does not take into account other factors that affect the development of disease such as diet, exercise, or environment. Warnings to consumers surpass the universal caveat emptor; consumers should exercise extreme caution to not fall victim to money-making schemes that take advantage of innate human fears and curiosities.
Most consumers surveyed believe that genetic testing should be conducted and interpreted in conjunction with physicians, genetic counselors, or other medical professionals. Most also agree that tests, and the information that is acquired, should be tightly regulated.
Knowledge is power, and genetic testing is appropriate for predicting some diseases and empowering individuals to understand their health risks. However, the information should be interpreted carefully. Consumers and health care providers need to fully communicate with each other about the positives and negatives of genetic testing, the appropriate behavior changes brought about by the results, and the management of expectations of the test results.
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