Study reveals why many opt out of multiplex testing for cancer-related gene variants

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Many patients do not want the information that comprehensive genetic testing provides, according to a study from researchers at the Perelman School of Medicine at the University of Pennsylvania and the Basser Center for BRCA in Penn’s Abramson Cancer Center.

In the study, 49 patient participants with a family or personal history that increased their risk for developing breast and other forms of cancer were offered multiplex testing. More than one-third of the participants declined the test because of uncertainty of the results.

Multiplex testing allows for simultaneous analysis of alterations in multiple cancer-related genes, whereas targeted testing focuses on a specific genetic mutations (eg, BRCA1 and BRCA2 gene mutations). However, the significance of alterations in many of the genes analyzed in multiplex testing is unknown.

All 49 participants received counseling on the advantages and disadvantages of the tests. After counseling, 16 participants declined multiplex testing or being told their results.

Of the remaining participants, 16 tested negative for any cancer-related variants, five tested positive, and 12 were found to have gene variants of uncertain significance (meaning that whether the changes are benign or tied to cancers is unclear).

Most cancer patients want tumor profiling, but have mixed feelings about other genetic information t
Many patients do not want the information that comprehensive genetic testing provides.
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. Concern for uncertainty and potential distress were cited among the most common reasons to refuse testing.
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