Study suggests 'neutral' response to genetic tests. But ...

February 13, 2013 | by Tami Dennis

People who learn they have BRCA genetic mutations seem to largely take that newfound knowledge in stride, using the results to confidently make decisions about their health – specifically as those decisions relate to their increased risk for breast cancer. So posits a small new study by a maker of  home genetic tests.

Mutations of the BRCA1 and BRCA2 genes dramatically increase the risk of breast cancer. A new study suggests people greet the results neutrally. Some aren't so sure.  Mutations of the BRCA1 and BRCA2 genes dramatically increase the risk of breast cancer. A new study suggests people greet the results neutrally. Some aren't so sure.

To reach this conclusion, researchers for test maker 23andMe surveyed 31 people who tested positive for the BRCA1 or BRCA2 mutations and 32 people who tested negative. They asked about participants about their family history of cancer, their emotional responses to the results, their perception of personal cancer risk and their following reactions, among other things.

Among test takers who learned they were the carriers of a mutation, “none of them reported extreme anxiety and four experienced moderate anxiety that was transitory,” the researchers found. “Remarkably, five women and six men described their response as neutral.”

That does seem remarkable.{C}

The researchers continued: “Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. … Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their BRCA mutation status.”

The results, from 23andMe, were published online this week in the open access journal  PeerJ.

The researchers  concluded: “Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.”

At least one expert who was not involved in the study is not so sure that genetic testing recipients will greet their results with such uniform equanimity. Joanne Mortimer, M.D., director of the Women's Cancers Program at City of Hope, told Everyday Health that the study doesn't offer the full picture of such tests’ impact.

After the test results must come choices – difficult choices  – about what to do with the new knowledge.

" When you first get the information, you’re not sure what you’re going to do with it," Mortimer says. "Being upset with the test results is only a small part of what this test is about."

The study – again, by a maker of home genetic tests – did point out that such tests can have an impact on others as well.

"The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified,” the authors wrote

As City of Hope notes in its fact sheet “Is Genetic Counseling Right for Me?”:

"If a family member has a mutation, a relative who learns that she/he does not have the mutation may feel guilty for being spared. People in whom a mutation is identified may feel a change in self-image, fear of the future, anger, surprise, worry or guilt for possibly passing a mutation on to their children. If a mutation cannot be identified in a family this could be upsetting to some persons. These are all normal reactions."

"Normal" would seem to be more nuanced than "neutral." And even a "neutral" reaction doesn't mean guidance isn't necessary.

As genetic tests become more common, educated guidance throughout the testing process – and in making the ensuing decisions – will be crucial.

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