Cancer Patients Have Limited Understanding of Genomic Test Results
A majority of patients with cancer don’t understand critical features of the genomic test results they receive when participating in clinical trials, according to a pilot study conducted under the Lung Cancer Master Protocol (Lung-MAP), the first lung cancer precision medicine trial supported by the National Cancer Institute (NCI).
In the first-of-its-kind study, researchers surveyed 123 individuals participating in the Lung-MAP trial and other biomarker-driven cancer trials. In these trials, patients receive genomic testing that detects DNA mutations in cancer cells, known as somatic mutations, which are typically found in tumor tissue samples. Precision medicine trials may also include germline testing, which detects inherited DNA mutations, usually detected in blood or saliva.
The researchers did find that patients knew some of what their genetic tests could do. Among the 123 participants, 86 percent correctly knew that their test results would be used to select their treatment regimen on the Lung-MAP trial. An additional 83 percent said they had received enough information about their test results to understand the benefits of enrolling in the trial.
However, patients weren’t entirely versed in the limitations of genetic testing, the researchers said.
Lung-MAP participants receive somatic testing of mutated cells found in their cancer tumor, but don’t receive germline testing for inherited mutations. The study asked patients about both kinds of tests and found that just nine percent correctly knew that the somatic testing they received could not predict if a family member was at increased risk of getting cancer.
Only 12 percent correctly knew that their test results can’t predict their own increased risk of getting other diseases.
These results show that there are significant knowledge gaps about the potential uses of gene sequencing results among patients with cancer. With health systems starting to incorporate genomics and precision medicine into everyday clinical care, these gaps will need to be identified and remedied to ensure patients have the most comprehensive understanding of their conditions and treatment paths.
“Given the public conversation about precision medicine, and the sharp increase in biomarker-driven cancer clinical trials, it's clear that lot of people don't really understand these complex trials and the testing that drives them,” said Lung-MAP investigator Joshua A. Roth, PhD. “We need to learn more about the public's knowledge gaps so we can fill them.”
Previous research has highlighted the challenges that can come with understanding genomic data, both for patients and providers. A 2017 study from Wamberg Genomic Advisors showed that while two-thirds of consumers would like to take part in genetic testing to better understand their health risks, 16 percent of patients said they are “confused” by their genetic test results.
An additional six percent said they experienced anxiety or mild depression after reviewing their personal data.
A separate study, published in the journal Pulmonary Circulation, showed that even providers who specialize in certain diseases lacked the working knowledge to understand the genetics of the disease.
Just 27 percent of the 223 participants demonstrated an adequate knowledge of disease genetics, and nearly 80 percent said they rarely or never recommend genetic testing to their patients.
As genetic testing grows more prevalent, providers and consumers may have to address these issues sooner rather than later. In a recent interview with HealthITAnalytics.com, Joel Diamond, MD, adjunct associate professor of biomedical informatics at the University of Pittsburgh, discussed the increasing availability of genetic tests, and the implications this will have for the industry going forward.
“I just saw that one of the consumer testing companies is offering a full genome path for $600, and experts predict that cost to come down. This means that organizations will soon be dealing with full genome data,” Diamond said.
“The science is changing rapidly every day,” Diamond added. “Today, there are literally thousands of variants of unknown significance in every patient, and tomorrow some of those variants will be associated with a syndrome. The industry needs an enterprise technology solution that can keep up with new advancements, as well as recognize when changes occur in a patient's clinical condition.”
These analyses demonstrate the fact that while genomic data is quickly advancing, the healthcare industry may still take some time to catch up.
“While evidence of utility of personal genomic information continues to be collected through ongoing research studies, it is important for professional societies, healthcare organizations, public health agencies and the private sector to improve the level of genomic health literacy of the public,” Muin J. Khoury, Director of the Office of Public Health Genomics, said in 2017.
“We all need unbiased information to be empowered to make the most informed decisions about genomic and other tests for our own health.”