New international guidelines developed by QIMR Berghofer researchers are expected to improve the accuracy of genetic tests that determine a person's cancer risk. As genetic testing becomes more prevalent, many people want to understand their likelihood of developing . These new guidelines are expected to reduce the number of uncertain test results by up to 85%, helping to avoid unnecessary medical treatment and anxiety.
The guidelines apply to testing for BRCA1 and BRCA2 gene variants, which play a crucial role in determining a person's risk of hereditary breast and ovarian cancer and other related cancers. The guidelines align with the Food and Drug Administration (FDA) requirements and have been in . Professor Amanda Spurdle from QIMR Berghofer said about 15% of people tested receive uncertain results.
"Genetic tests aren't always clear and sometimes they show changes in that aren't fully understood. This can make it difficult for doctors and patients to decide on the best treatment plan," Professor Spurdle said. "The new guidelines combine global clinical and research experience with advanced statistical methods, providing clearer recommendations about what variants are important and that then informs the management.
" Co-lead author Michael Parsons from QIMR Berghofer said the interpretation of gene variants could vary between diagnostic laboratories, meaning people with the same results might receive different treatments and very different outcomes. "This publicly availab.