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New international guidelines,聽developed by researchers, are expected to reduce the number of uncertain test results by up to 85% and help 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鈥檚 risk of hereditary breast and ovarian cancer and other related cancers.

Professor Amanda Spurdle from QIMR Berghofer said about 15% of people tested receive uncertain results.

鈥淕enetic tests aren鈥檛 always clear and sometimes they show changes in genes that aren鈥檛 fully understood. This can make it difficult for doctors and patients to decide on the best treatment plan,鈥� Spurdle said.

鈥淭he 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.鈥�

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.

鈥淭his publicly available protocol will standardise the way BRCA1 and BRCA2 variants are classified, helping to reduce concern for clinicians and patients, and avoid treatment that isn鈥檛 needed,鈥� he said.

The QIMR Berghofer researchers led an international research team of 43 scientists and clinicians to develop the guidelines. They have been approved by , an organisation which helps define the clinical relevance of gene variants for use in medicine and research.

ClinGen Hereditary Cancer Co-chair Sharon Plon is excited to see the availability of worldwide uniform guidelines.

鈥淭hese are some of the most frequently tested genes important for preventing cancer. Having a ClinGen set of specifications for laboratories around the world to use will improve the quality of genetic testing and reduce differences among these labs and make results more consistent,鈥� Plon said.

The research team will continue to contribute to a central global resource of information about genes and variants to improve patient care, managed by ClinGen (Clinical Genome Resource).

The guidelines align with the Food and Drug Administration (FDA) requirements and have been published in . They will also help clinicians decide whether to test close relatives to aid prevention and early detection.

The Australian component of the project was supported by the , and the .

Image credit: iStock.com/CIPhotos