About this item:

546 Views | 782 Downloads

Author Notes:

Correspondence to: Christine Stanislaw, E-mail: christine.stanislaw@emory.edu.

Christine Stanislaw, and William R. Wilcox have no conflicts. Yuan Xue is an employee of Fulgent Diagnostics, a genetic testing company.



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

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


Journal Title:

Cancer Biology & Medicine


Volume 13, Number 1


, Pages 55-67

Type of Work:

Article | Final Publisher PDF


The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion 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 most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members (pre-test counseling), explain to patients the implications of the test results (post-test counseling), and assist in testing family members at risk.

Copyright information:

© 2016 by Cancer Biology & Medicine.

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (http://creativecommons.org/licenses/by-nc-sa/4.0/).

Creative Commons License

Export to EndNote