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Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?

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Abstract

Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results.

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Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

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Acknowledgements of research support

This project was supported by the Weill Cornell Medicine Clinical & Translational Science Center (CTSC) and Invitae Genetics. Paul Christos was partially supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under Award Number UL1TR000457. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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There are no sources of funding for the research reported.

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Authors and Affiliations

Authors

Contributions

Conception and design: Melissa K. Frey, Francesca Tubito, Ryan Kahn, Kevin Holcomb. Financial support: Paul Christos. Administrative support: Francesca Tubito. Provision of study materials or patients: Francesca Tubito, Ryan Kahn. Collection and assembly of data: Melissa K. Frey, Ryan Kahn, Eloise Chapman-Davis, Maira Pires, Samantha Anderson, Thomas A. Caputo. Data analysis and interpretation: Melissa K. Frey, Ryan Kahn, Paul Christos, Ravi N. Sharaf, Kenneth Offit, Kevin Holcomb, Hannah Krinsky, Steven Lipkin, Roni Nitecki, Jose Alejandro Rauh-Hain, Rana Khan Fowlkes. Manuscript writing: All authors. Final approval of manuscript: All authors. Accountable for all aspects of the work: All authors.

Corresponding author

Correspondence to Ryan Matthew Kahn.

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Ethics approval

Approved by Weill Cornell Medicine Institutional Review Board. Our study was reviewed by an institutional review board/human investigations committee/ethics committee (Weill Cornell Institutional Review Board) and approved as human subjects research.

Human studies and informed consent

All appropriate steps were taken in obtaining informed consent of all human subjects participating in the research comprising the manuscript submitted for publication. There is no identifying information. All study participants have given informed consent to be included in the study.

Statements and declarations

Kevin Holcomb serves as a consultant for Johnson and Johnson and receives research support from Fujirebio Diagnostics. None of the remaining authors have a conflict of interest to disclose.

Conflict of interest / competing interests

Ryan M. Kahn declares that he has no conflict of interest. Muhammad Danyal Ahsan declares that he has no conflict of interest. Eloise Chapman-Davis declares that she has no conflict of interest. Kevin Holcomb declares that he has no conflict of interest. Roni Nitecki declares that she has no conflict of interest. Jose Alejandro Rauh-Hain declares that he has no conflict of interest. Rana Khan Fowlkes declares that she has no conflict of interest. Francesca Tubito declares that she has no conflict of interest. Maira Pires declares that she has no conflict of interest. Paul J Christos declares that he has no conflict of interest. Kaitlyn Tkachuk declares that she has no conflict of interest. Hannah Krinsky declares that she has no conflict of interest. Ravi N. Sharaf declares that he has no conflict of interest. Kenneth Offit declares that he has no conflict of interest. Steven Lipkin declares that he has no conflict of interest. Melissa K. Frey declares that she has no conflict of interest.

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Kahn, R.M., Ahsan, M.D., Chapman-Davis, E. et al. Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?. Familial Cancer 22, 127–133 (2023). https://doi.org/10.1007/s10689-022-00316-x

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