Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines

Rebecca K. Marcus, Jennifer L. Geurts, Jessica A. Grzybowski, Kiran K. Turaga, T. Clark Gamblin, Kimberly A. Strong, Fabian M. Johnston

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Next generation sequencing (NGS) technology is rapidly being implemented into clinical practice. Qualitative research was performed to gain an improved understanding of the landscape surrounding the use of NGS in cancer genetics. A focus group was conducted at the Wisconsin Cancer Risk Programs Network biannual meeting. Free flowing discussion with occasional open-ended questions provided insights into the use of NGS. 19 genetic counselors and medical professionals participated. Three major themes were identified with respect to NGS and its use in cancer genetics: knowledge gaps, the evolving clinician role, and uncertain utility. Several corresponding subthemes were identified. With respect to knowledge gaps, participants expressed concern regarding unexpected results and variants of unknown significance, lack of data about NGS findings, absence of standardization regarding use of NGS and guidelines for interpretation, and discomfort with new technology. Regarding the evolving clinician role, necessary changes to the roles of genetic counselors and physicians were noted, as was the resultant impact on care received by patients and their families. Finally, the clinical and economic utility of NGS was questioned. While a shift from traditional Sanger sequencing to NGS is occurring in molecular genetic testing for disease susceptibility, there are several obstacles that need to be overcome before widespread adoption of this technology can occur. Furthermore, key aspects of NGS and it utility remain unexplored. Continued investigation into these subjects is necessary before this technology will consistently be of benefit to patients and their families.

Original languageEnglish (US)
Pages (from-to)641-649
Number of pages9
JournalFamilial Cancer
Issue number4
StatePublished - Jun 25 2015
Externally publishedYes


  • Atttitudes
  • Geneticist
  • NGS guidelines
  • Next generation sequencing
  • Qualitative research

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research


Dive into the research topics of 'Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines'. Together they form a unique fingerprint.

Cite this