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WEHI Launches Project to Improve Genomic Data Interpretation, Precision Cancer Care in Australia

NEW YORK – Australia's Walter and Eliza Hall Institute of Medical Research on Monday announced the launch of a three-year genomics project to advance precision medicine in the country.

The project, which is backed by $2.5 million AUD ($1.7 million USD) in funding from Australia's Medical Research Future Fund (MRFF), involves chief investigators from five institutions including the QIMR Berghofer Medical Research Institute, the Center for Cancer Biology, the Peter MacCallum Cancer Center, and NSW Health Pathology in Australia, and the University of Washington in the US. Fifteen clinical and research partners are also involved.

Researchers aim to develop a technology that links two data platforms, called MaveDB and Shariant, use it to investigate cancer-related genes, and educate doctors in Australia on how to interpret and use the data in patient care. MaveDB contains multiplexed assays of variant effect (MAVE) data, which helps researchers systematically measure tens of thousands of genetic variants and their impact on gene function via one single well-controlled experiment. Shariant enables clinical molecular pathology labs in Australia to share clinical variant interpretations.

Because MAVE data is difficult to access and interpret, it has not yet had a palpable effect on clinical care. By combining data in MAVE and Shariant, the partnered researchers hope to change this, allowing labs to use the MAVE data to improve genetic diagnosis across disease types. "These efforts will enable Australian labs to more easily access existing and forthcoming MAVE data from a global network of researchers," Alan Rubin, a computational biologist at WEHI and one of the chief investigators on the project, said in a statement.

Researchers are specifically focused on using the genomic data to improve clinical care for patients with blood, breast, and ovarian cancers. In blood cancer, the researchers will study variants in RUNX1 and GATA2. In ovarian cancer, they will investigate ways to overcome resistance to PARP inhibitors. Researchers will also study the breast cancer risks associated with specific BRCA1 variants in patients.

"With new technologies, we can now examine every possible change in a single gene in one experiment, but what we're missing is an easy way to share this data and cross-reference it with what we see in patients," Rubin said. "This project will bridge that critical gap."