Conversion Technology and Cancer Predispositions

The field of diagnostics has gathered the first crop of the genetic insurgency in the identification of the genetic basis of common and uncommon hereditary diseases. Discoveries of genes that predispose to cancer have led to the development of genetic tests. In turn, genetic tests can provide information valuable for the management of individuals who belong to families with history of hereditary disease and lead to important changes in clinical practice of cancer predispositions. The promise of cancer gene testing is to decrease morbidity and mortality through screening and hopefully prevention. Besides the promise, however, there are problems associated with genetic testing. Genetic testing is associated with psychologic problems and ethical concerns, which are not going to be discussed here. What is often overlooked are the technical problems associated with genetic testing, which lead to tests with sensitivities lower than what is required in the clinical environment. Genetic testing here refers strictly to testing of germline mutations in familial predisposition to cancer. This chapter focuses on the utilization of haploid templates for increasing the sensitivity of genetic testing.