Meet John C., a 65-year-old motorcycle enthusiast, who suddenly found himself in the emergency room after having persistent chest pains. The doctors told him that he had severe blockage in one of his arteries, he was bleeding non-stop, and after a series of tests, he discovered that he had a cancerous tumor in his colon, which had been growing for 10 years. Because of his bleeding, they couldn't operate on the tumor right away. In the meantime, doctors asked him to participate in an NIH genetic research study, which John readily agreed to. He went through treatment for the next several years, which included chemotherapy, surgery, and blood testing for the study. As things turned out, he caught his cancer at the last minute, when it was so severe that he had to be rushed to the hospital. But genetic testing could have alerted him to the issue, so that he could get the proper treatment (“A Diagnosis,” 2018). Think of the stress, other high-running emotions, time, and money that could have been saved if he caught it early on. After having been tested, John would have sought out the proper medical treatment, stopping anything serious before it could have started. This leads to the idea that consumers should have direct access to genetic testing in order to prevent genetic diseases and encourage individuals to be more proactive about their health.
When one is considering the benefits of genetic testing, it is imperative to consider the accuracy of such testing. For instance, if someone receives a false positive for a serious condition, they may go through damaging preventative measures. Similarly, if they receive a false negative, it is likely they will not take action to preserve their health (Gottlieb, 2017). However, the FDA has put regulations in place that require direct-to-consumer tests be approved by the department before they are allowed on the market. The FDA checks for concrete links between the condition and what the test uses to identify it. They also confirm that the company communicates that the test indicates whether one is at risk or not, versus a definitive diagnosis. Correspondingly, the FDA requires that the company advises consumers to seek professional medical advice in addition to their service. Direct-to-consumer genetic testing company 23andMe was the first to have tests approved (“FDA allows marketing”, 2017). The company advises consumers in a similar fashion as the FDA, reinforcing the regulations and intentions of the FDA (“23andMe,” 2018). This shows us how the FDA is encouraging individuals to get proper medical attention if they choose to use direct to consumer testing.
One condition that can be highlighted by genetic testing is cancer. About 20 types of cancers have been linked with genetic mutations, including breast cancer, pancreatic cancer, and brain cancer (Gersten, 2016). But this crippling condition can be caught early on, and therefore be less dangerous, through testing for genetic mutations (Gersten, 2016). When cancer is caught early on, it does not have a chance to metastasize, streamlining the treatment process and giving the patient a higher chance of survival. Ultimately, genetic testing is a valuable tool that has the potential to save lives.
People who suspect they have symptoms of a serious illness often times do not seek medical assistance. For instance, the 2008 Health Information National Trends Survey found that 12.2% of participants did not think it necessary to see a doctor. 4% of participants believed that their symptoms would improve on their own (Taber et al., 2015). If they tested themselves and received conclusive or indicative results, they have more incentive to seek professional medical treatment. Furthermore, FDA commissioner Scott Gottlieb, M.D., supports these ideas: “These tests can prompt consumers to be more engaged in pursuing the benefits of healthy lifestyle choices and more aware of their health risks.” Clearly, genetic testing has the potential to allow patients to be more proactive about their health.
Direct-to-consumer genetic testing is an incredible advancement in technology that is accessible and useful. It has the potential to spread awareness about many little-known conditions (“What is direct,” 2018). Perhaps direct-to-consumer testing will lead to a healthier future, where individuals keep themselves informed about their health on their own, without constantly needing the advice of a medical professional (though seeking one out when necessary). In the end, everyone should consider genetic testing as a valuable tool because of its potential to reveal insights that were here-to-fore inaccessible.
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