Penn Medicine Study Reveals Why Almost Half of At-Risk Patients Opt Out of Comprehensive Multiplex Cancer Screening

“Some at-risk patients opted out of comprehensive cancer gene screening when presented with the opportunity to be tested for the presence of genes linked to various cancers, according to a recent study led by researchers at the Perelman School of Medicine at the University of Pennsylvania and the Basser Center for BRCA in Penn’s Abramson Cancer Center. Concern for uncertainty and potential distress were cited among the most common reasons to refuse testing. The results, published in Genetics in Medicine, were released just weeks ahead of an announcement of the online availability of low-cost genetic testing for breast and ovarian cancer mutations. Authors say the results suggest that patients have varying interest in ‘gene panels’ when they are informed of the potential risks and benefits, reflecting the current need for pre-test counseling when genetic panel testing is considered for at-risk patient populations.

“The study found that of the 49 patient participants, all of whom have a family or personal history that puts them at-risk for development breast and other forms of cancer, more than one-third declined multiplex testing. Multiplex testing allows for the simultaneous analysis of alterations in multiple cancer-related genes, and is an alternative to targeted tests that screen for individual forms of cancer. A targeted test might look for inherited mutations in the BRCA1 and BRCA2 genes, for example, which increase the risk of breast, ovarian, and other types of cancer. Some patients also declined the study all together because they were concerned about the uncertainty or distress with testing.”