The growth of genomics will have a huge impact in a number of clinical areas. Over the last month, recent top stories have underscored the diversity of applications, from breast cancer tests to neurodegenerative disorders.
Genetic testing of breast tumors can help describe their biological aggressiveness, regardless of size. However, recent studies have shown that different molecular assays that look at breast cancers to provide recurrence scores can result in widely contradicting risk scores.
New research into molecular subtyping may provide the key. The BluePrint assay (Agendia) does not look for genetic signatures for recurrence, but rather at tumor subtypes, such as Luminal A and B, HER-2 and Basal breast tumors. When combined with previously established assays, molecular subtyping could more appropriately stratify a patient’s risk, though more work is needed to refine the testing and improve the predictive models.
Another combo, this time pairing genetic testing with functional MRI (fMRI), has demonstrated that a specific genetic allele could serve as a protector of memory in aging brains. Researchers from the National Institute of Mental Health in Bethesda, Md., identified a variant of the WWC1 gene as the source of improved cognitive ability.
Their study, published in Biological Psychology, noted that the WWC1-produced protein KIBRA is essential to memory. They evaluated three forms of WWC1, named CC, TT or CT, and found that the T-allele in CT and TT was attributed to better memory performance and more activity in the hippocampus, a region associated with memory processing.
Finally, a 3D atlas of genetic activity in the prenatal brain has been created and made available to researchers and the public. The BrainSpan Atlas of the Developing Human Brain was developed by the Allen Institute for Brain Science in Seattle. It combines genetic switching of the transcriptome on the righ hemisphere and anatomic information with neuroimaging data to represent the unborn human brain at mid-pregnancy. The map could be useful for understanding the development of schizophrenia and autism.
These and other advances in genetic biomarkers hold promise to lead to targeted treatments for a wide variety of conditions. For more on how this growing field is impacting cancer research, read ”Fingerprinting Cancer: How Radiomics and Genomics Are Mapping Tumor Heterogeneity Using ‘Big Data’ to Track Killer Habitats.”
Editor – Health Imaging