Is Knowledge Power? Direct-to-Consumer Genetic Testing




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.

References

Wilde, A., Meiser, B., Mitchell, P., & Schofield, P. (2009). Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings European Journal of Human Genetics DOI: 10.1038/ejhg.2009.138

Borry, P., Howard, H., Sénécal, K., & Avard, D. (2009). Health-related direct-to-consumer genetic testing: a review of companies’ policies with regard to genetic testing in minors Familial Cancer DOI: 10.1007/s10689-009-9253-9

Evans JP, Green RC. Direct to consumer genetic testing: Avoiding a culture war. Genet Med. Aug 2009;11(8):568-569.

Boddington, P. (2009). The ethics and regulation of direct-to-consumer genetic testing Genome Medicine, 1 (7) DOI: 10.1186/gm71

Kaye, J. (2008). The regulation of direct-to-consumer genetic tests Human Molecular Genetics, 17 (R2) DOI: 10.1093/hmg/ddn253

Farkas, D., & Holland, C. (2009). Direct-to-Consumer Genetic Testing: Two Sides of the Coin Journal of Molecular Diagnostics, 11 (4), 263-265 DOI: 10.2353/jmoldx.2009.090034

Bowen, D., Harris, J., Jorgensen, C., Myers, M., & Kuniyuki, A. (2009). Socioeconomic Influences on the Effects of a Genetic Testing Direct-to-Consumer Marketing Campaign Public Health Genomics DOI: 10.1159/000231722

Jennifer Gibson, PharmD

Jennifer Gibson, PharmD, is a practicing clinical pharmacist and medical writer/editor with experience in researching and preparing scientific publications, developing public relations materials, creating educational resources and presentations, and editing technical manuscripts. She is the owner of Excalibur Scientific, LLC.
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