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Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

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Journal of Genetic Counseling

Abstract

Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.

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Acknowledgements

We would like to acknowledge the patients and their families who generously contributed their time to participation in our study. We would like to acknowledge David Cella for permitting and assisting in the use of the MICRA questionnaire in this study. This work was supported in part by NIA Grant T35 AG 044303.

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Authors and Affiliations

  1. College of Physicians and Surgeons, Columbia University, New York, NY, USA

    Heidi S. Lumish & Hallie Steinfeld

  2. Division of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA

    Carrie Koval, Donna Russo, Elana Levinson & Julia Wynn

  3. Department of Biostatistics, Columbia University, New York, NY, USA

    James Duong

  4. Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA

    Wendy K. Chung

  5. Division of Molecular Genetics, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA

    Wendy K. Chung

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  1. Heidi S. Lumish
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  2. Hallie Steinfeld
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  3. Carrie Koval
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  4. Donna Russo
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Correspondence to Wendy K. Chung.

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Heidi S. Lumish declares that she has no conflict of interest.

Hallie Steinfeld declares that she has no conflict of interest.

Carrie Koval declares that she has no conflict of interest.

Donna Russo declares that she has no conflict of interest.

Elana Levinson declares that she has no conflict of interest.

Julia Wynn declares that she has no conflict of interest.

Wendy K. Chung declares that she has no conflict of interest.

Human Studies and Informed Consent Statement

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and nation) and with the Helsinski Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Lumish, H.S., Steinfeld, H., Koval, C. et al. Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. J Genet Counsel 26, 1116–1129 (2017). https://doi.org/10.1007/s10897-017-0090-y

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