Conor Stewart
Research expert covering health & pharmaceuticals in the UK & Europe
Genetic testing - statistics & facts
Would someone want to know if they had a higher risk of developing a condition or disease later in life? According to a survey of Americans, almost 50 percent would be willing to take a test to see if they had a higher hereditary risk of cancer.
The general science behind genetic testing is relatively simple, a sample of a person’s blood or tissue is examined to determine changes, or mutations associated with a genetic condition. Once limited in healthcare circles to only doctors and other professionals, the take-off of direct-to-consumer genetic testing around 15 years ago bypassed the healthcare route and greatly increased the availability of these tests. The main reasons people buy at-home testing kits are for knowledge of disease risks or ancestry testing.
Are these tests accurate?
There has been some skepticism from healthcare professionals toward DTC genetic tests since they came on the market. Furthermore, some studies have reported results that would indicate the accuracy of these tests leaves a lot to be desired. This has been tempered by some other health professionals that, while tests on their own might not be enough or lack enough context, in combination with other details such as medical history they can be useful. Indeed, a survey of health professionals in Europe found that 60 percent believe that DTC genetic tests have the potential to be both helpful and harmful. Around 13 percent of those surveyed consider the tests merely harmful. Several issues were highlighted by experts, chief among them, the lack of evidence of clinical validity. Additionally, it has been cited there is a lack of safeguards regarding counseling upon the user receiving bad news they may not have been expecting. Health experts are also worried that if a person receives a test indicating they don’t have a higher risk of developing cancer, they may make unhealthy life choices or miss chances to attend regular screenings. Lastly, security concerns about the handling of people’s genetic data have arisen, especially in light of hackers accessing the information of almost seven million customers of genetic testing company 23andMe in December 2023.Can genetic tests realize personalized healthcare potential?
Even with the rise of genetic tests for consumers, most genetic tests are nevertheless taken in hospitals, clinics, and diagnostic laboratories. Genetics is also being used to personalize medical treatments. Genetic factors identified in a patient allow physicians to select the most effective therapy and therefore achieve better outcomes. If a genetic test indicates a higher chance of developing cancer, there are multiple steps that can be undertaken. These include being screened younger and more often for cancer, taking medications, and changing health behaviors to reduce the risk of cancer. On the opposite side of increased knowledge of their health, there are worries, particularly in the United States, that the results of a test can increase health insurance premiums. Therefore, with the prospect of genetic testing, there are many things to consider, and whether the test has been recommended by a healthcare professional or not.Conor Stewart
,
Mar 5, 2025
Conor Stewart
Research expert covering health & pharmaceuticals in the UK & Europe
