Grant: CIHR Clinician Scientist - Phase 2

Dr Schrader will use state-of-the art technologies to identify the inherited basis of cancers that run in families or occur multiple times in a single individual. Dr Schrader will test many genes at once in the patient's tumor DNA alongside their normal DNA, to look for candidate genes altered in both samples that are most likely to be the basis of the patient's inherited cancer. Diagnosis of an inherited cancer susceptibility can determine whether patients and family members are at risk of cancer and both the patient and at-risk family members may benefit from increased screening, surveillance and/or prophylactic cancer prevention measures. Dr Schrader also proposes using these sequencing technologies to test whether we can improve upon current cancer detection strategies in individuals with known cancer susceptibilities. By screening body fluids for DNA released from early tumors with secondary mutations, it may be possible to detect evidence of early tumors. A positive screen may alert physicians to undertake more targeted diagnostic strategies to find and treat cancers at an early stage. Finally, genome-wide sequencing also has the potential to reveal information regarding non-cancer related genetic disease risks. Arguably, the clinical uptake of genome-wide sequencing has been the fastest in oncology, where tumor sequencing is undertaken to identify drug-targetable mutations. Clinical and research practices regarding the management of potentially clinically significant incidental genomic findings are evolving. Dr Schrader will research both the cancer and non-cancer related incidental findings revealed through the course of clinical and research tumor sequencing. Understanding of the scope of potential incidental findings will be critical as the policy and practice moves forward with this regard.