麻豆传媒

Increasingly sophisticated tumor profiling technology has led to advancements in diagnosing and treating genetic diseases like cancer. Yet, there is a downside to the cascade of data that a genetic profile can uncover. Specifically, tests can uncover incidental findings about genetic abnormalities unrelated to the cancer that could 鈥� but not necessarily will 鈥� affect the patients or their relatives. These findings could include genetic variants that would predispose patients and their family to a variety of conditions including other cancers, Alzheimer鈥檚, and cardiovascular disease.

The study showed that despite the risk for receiving information about other potentially serious health problems, 59% of the cancer patients would agree to tumor profiling if offered by their physician. In a scenario where tumor profiling was already ordered, 79% of patients stated they wanted to know all of the information obtained.

However, when specifically asked about a variety of possible incidental findings, only 57% wanted to know if they were found to have a gene variant that would cause an unpreventable and serious illness, and only 47% wanted to know about a gene variant of uncertain significance.

鈥淲hile tumor profiling holds the promise of improved therapeutics through personalized medicine, it is important that both clinicians and patients discuss the possibilities of incidental findings prior to ordering the testing, as the findings can have serious implications for both the patient and their family members,鈥� said Melinda Yushak, M.D., M.P.H., first author on the study and a medical oncology fellow in Yale School of Medicine.

Despite the willingness by most patients to pursue genetic testing, patients differed widely in what they wanted to know about incidental findings. For instance, 18% of patients wanted to know only about the information obtained that would impact their cancer treatment; and 12% would not want to know about a genetic variant that could be inherited.

The authors surveyed 855 patients with breast, gastrointestinal, and thoracic cancers treated at Smilow Cancer Hospital at Yale-New Haven.

Other authors on the study include Sara Bouberhan, Gang Han, Lianne Epstein, Sarah Mougalian, Maysa Abu-Khalaf, Gina Chung, Michael DiGiovanna, Tara Sanft, Lajos Pusztai, and Erin Hofstatter.