Study shows individuals most likely to seek medical advice and notify relatives
A recent study examined patients’ reactions when they learned for the first time that they carried either a BRCA1 or BRCA2 gene mutation and that these mutations put them at higher risk for breast and ovarian cancer. Researchers discovered that, when direct-to-consumer (DTC) genetic testing revealed the high-risk mutations, individuals experienced few negative reactions to the results.
“The paper addresses one of the most urgent questions in the field of genetics and genomics, namely the impact of receiving unexpected information about high genetic risk for a life-threatening disease,” said lead author Dr Uta Francke.
For the study, titled “Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing,” 32 individuals found to be mutation carriers and 31 individuals found to be noncarriers were interviewed.
Often, a frequent concern regarding DTC testing is that it can cause emotional distress or prompt adverse reactions by the consumers. However, the study findings show that mutation-positive study participants said they did not suffer serious emotional distress, and they did not carry out harmful actions. Instead, the test results prompted most people to schedule a follow-up visit with a doctor and initiate discussions with at-risk family members. As a result of such family discussions, a number of relatives were also tested.
Of the 32 mutation-positive participants, 31 valued the knowledge of their BRCA mutation status. All of the mutation-negative individuals understood that they were not free from all risks and that they should continue with routine cancer screening.
When it comes to the bioethical concerns related to DTC testing, these preliminary data imply that some of them may be overstated, at least for those individuals who pursue DTC personal genomics testing.
Source: PeerJ.