Personalised medicine: a new approach to improving health in Indigenous Australian populations

Personalised medicine is a newly emerging field with much to offer to all populations in improved clinical treatment options. Since the 1970s, clinicians and researchers have all been working towards improving the health of Indigenous Australians. However, there has been little research on the impact of genetics on Indigenous health, how genetic and environmental factors interact to contribute to poor health in Indigenous people, and how genetic factors specific to Indigenous people affect their responses to particular treatments. This short review highlights the urgent need for more genetic studies specific to Indigenous people in order to provide more appropriate care and to improve health outcomes. This paper explores why genetic work with Indigenous communities has been limited, how personalised medicine could benefit Indigenous communities, and highlights a number of specific instances in which personalised medicine has been critical for improving morbidity and mortality in other high-risk groups. In order to take the next step in advancing the health of Indigenous peoples, targeted research into the genetic factors behind chronic diseases is critically needed. This research may allow clinicians a better understanding of how genetic factors interact with environmental factors to influence an Indigenous Australian's individual risk of disease, prognosis, and response to therapies. It is hoped that this knowledge will produce clinical interventions that will help deliver clearly targeted, more appropriate care to this at-risk population. (C) 2017 S. Karger AG, Base

The Somatic Genomic Landscape of Glioblastoma

We describe the landscape of somatic genomic alterations based on multidimensional and comprehensive characterization of more than 500 glioblastoma tumors (GBMs). We identify several novel mutated genes as well as complex rearrangements of signature receptors, including EGFR and PDGFRA. TERT promoter mutations are shown to correlate with elevated mRNA expression, supporting a role in telomerase reactivation. Correlative analyses confirm that the survival advantage of the proneural subtype is conferred by the G-CIMP phenotype, and MGMT DNA methylation may be a predictive biomarker for treatment response only in classical subtype GBM. Integrative analysis of genomic and proteomic profiles challenges the notion of therapeutic inhibition of a pathway as an alternative to inhibition of the target itself. These data will facilitate the discovery of therapeutic and diagnostic target candidates, the validation of research and clinical observations and the generation of unanticipated hypotheses that can advance our molecular understanding of this lethal canceropen40