Cancer remains the leading cause of death by disease for children in the United States. Recent studies have shown that germline mutations in cancer predisposition genes (CPG) can be found in 8-10% of childhood cancer patients. These mutations, which may be inherited from parents and also affect other family members, predispose to multiple cancers including some that have a poor prognosis. Identification of CPG mutations in children has the potential to facilitate early cancer detection and more effective treatment. However, without a family history of cancer or clinical suspicion of a CPG mutation, this testing is not routinely performed. Our ultimate goal is to reduce pediatric cancer morbi...

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Cancer remains the leading cause of death by disease for children in the United States. Recent studies have shown that germline mutations in cancer predisposition genes (CPG) can be found in 8-10% of childhood cancer patients. These mutations, which may be inherited from parents and also affect other family members, predispose to multiple cancers including some that have a poor prognosis. Identification of CPG mutations in children has the potential to facilitate early cancer detection and more effective treatment. However, without a family history of cancer or clinical suspicion of a CPG mutation, this testing is not routinely performed. Our ultimate goal is to reduce pediatric cancer morbidity and mortality in the diverse population of Texas through incorporation of CPG testing into routine newborn screening. We are uniquely situated to perform this research in Texas given the statewide newborn screening program (with blood spots that can be used for CPG testing), a statewide cancer registry, and our experienced multidisciplinary research team with expertise in pediatric cancer treatment, genetics, and epidemiology which has been conducting CPRIT and NIH-funded studies of genetic testing for childhood cancer patients over the past decade. We will first develop and evaluate relevant CPG testing methods and obtain data from parents and primary care providers regarding perceptions and preferences for CPG-NBS (Aim 1). We will then prospectively evaluate the potential clinical impact of CPG-NBS in Texas through enrollment of a cohort of patients at high risk of harboring CPG variants (Aim 2). Finally, we will use this knowledge to develop resources and recommendations to guide effective and ethical implementation of statewide CPG-NBS (Aim 3). These studies will provide critical data to inform the feasibility and clinical utility of newborn screening for cancer susceptibility across the state of Texas.

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