Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Christine Stanislaw, Yuan Xue, William R. Wilcox


The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing ofmultiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in thehereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. Thebest panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. Theinclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation.Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the mostappropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients onthe available tests and the potential implications of results for themselves and their family members (pre-test counseling), explainto patients the implications of the test results (post-test counseling), and assist in testing family members at risk.


Genetic counseling; genetic testing; informed consent; high-throughput nucleotide sequencing; neoplastic syndromes, hereditary

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