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Evaluation of laboratory perspectives on hereditary cancer panels

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Abstract

Genetic counseling and testing for hereditary cancer susceptibility is a rapidly evolving field and partly a result of next-generation sequencing (NGS) allowing analysis of multiple cancer susceptibility genes simultaneously. This qualitative study explored laboratory perspectives on hereditary cancer panels. Semi-structured interviews were conducted with representatives of clinical laboratories offering hereditary cancer panels via NGS. Several themes emerged from the responses pertaining to hereditary cancer panel development, the importance of communication of panel properties with patients, variant reporting policies, and the future of hereditary cancer gene testing. Clinical utility was discussed as primary consideration during panel development. In addition, while participants indicated gene and syndrome overlap prompted panel development in general, laboratories differed in their opinions of whether phenotypic overlap warrants offering pan-cancer panels only versus cancer specific panels. Participants stressed the importance of patients understanding implications of panel testing, including what is tested for and limitations of testing. While all laboratories discussed the limitations of a variant of uncertain significance result, they differed significantly in their reporting methods. This study provides healthcare providers information on the laboratory approach to panel testing, highlighting both commonalities and differences in laboratory approaches, and may allow providers to make more informed decisions when ordering hereditary cancer panels.

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Acknowledgments

This study would not have been possible without the support of the Northwestern University Graduate Program in Genetic Counseling.

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Authors and Affiliations

  1. Department of Medicine, University of Chicago Medicine, 5841 S. Maryland Ave, MC4076, Chicago, IL, 60637, USA

    Jessica Stoll & Amy Knight Johnson

  2. GeneDx, Gaithersburg, MD, USA

    Scott M. Weissman & Kristen J. Vogel Postula

  3. Natera, Inc., San Carlos, CA, USA

    Nicole Hook

  4. Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA

    Christina Selkirk & Anna Newlin

Authors
  1. Jessica Stoll
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  2. Scott M. Weissman
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  3. Nicole Hook
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  4. Christina Selkirk
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  5. Amy Knight Johnson
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  6. Anna Newlin
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  7. Kristen J. Vogel Postula
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Corresponding author

Correspondence to Jessica Stoll.

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Conflict of interest

Authors Scott M. Weissman, Kristen J. Vogel Postula, and Amy Knight Johnson are employed by clinical laboratories offering hereditary cancer panel testing. They were not involved in recruitment of study subjects nor did these investigators have direct involvement in participant interviews or data coding.

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Stoll, J., Weissman, S.M., Hook, N. et al. Evaluation of laboratory perspectives on hereditary cancer panels. Familial Cancer 15, 689–696 (2016). https://doi.org/10.1007/s10689-016-9880-x

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  • DOI: https://doi.org/10.1007/s10689-016-9880-x

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