Genetic testing for germline hereditary predisposition syndromes usually involves traditional Sanger DNA sequencing (see Figure 1). New advances in genomic technologies have led to reduced cost and turnaround time with the simultaneous testing of multiple genes. This, in turn, has led to the introduction of next-generation sequencing (NGS) panels that analyze less common high- and intermediate-penetrance cancer susceptibility genes. The ultimate goal of NGS is to reduce the cost of whole genome sequencing to about $1,000 and provide robust and comprehensive information about hereditary risk for developing a myriad of diseases (Rizzo & Buck, 2012).
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