The integration of next-generation sequencing panels in the clinical cancer genetics practice: An institutional experience

Caitlin B. Mauer, Sara M. Pirzadeh-Miller, Linda D. Robinson, David M. Euhus

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


Purpose:The advent of next-generation sequencing for cancer susceptibility genes holds promise for clinical genetics application, but the practical issues surrounding integration of this testing into the clinical setting have not been well addressed. This article describes the clinical experience of genetic counselors in an academic and community setting with next-generation sequencing cancer panels.Methods:Between April 2012 and January 2013, 60 next-generation sequencing panels were ordered. A retrospective review was conducted to determine the indication for ordering the results of the tests and the patient management based on the results.Results:Ten tests were canceled due to out-of-pocket costs or previously identified mutations. Among the 50 tests, 5 (10%) showed a positive result. Moreover, 15 of the 50 (30%) panels detected variant(s) of uncertain significance or variant(s) suspected benign.Conclusion:We propose clinical guidelines for identifying high-risk patients who should be offered this testing. Our data support the National Comprehensive Cancer Network recommendations that next-generation sequencing be ordered as a second-tier test for high-risk individuals with cancer by trained cancer genetics providers. Literature review and expert knowledge should be used to create management plans for the identification of both positive and variants of uncertain significance results. Providers should be aware of limitations regarding reimbursement for testing and recommended management strategies.

Original languageEnglish (US)
Pages (from-to)407-412
Number of pages6
JournalGenetics in Medicine
Issue number5
StatePublished - May 2014
Externally publishedYes


  • BRCA
  • genetic testing
  • genomics
  • next-generation sequencing
  • panel testing

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'The integration of next-generation sequencing panels in the clinical cancer genetics practice: An institutional experience'. Together they form a unique fingerprint.

Cite this