Assessing relatives’ readiness for hereditary cancer cascade genetic testing



To explore the readiness of living, untested first-degree relatives (FDRs) to have cascade genetic testing (CGT) for a hereditary predisposition to cancer.


Adults with a hereditary predisposition to cancer completed an anonymous, online survey about their genetic testing and their FDRs’ vital status, awareness of the variant, uptake of CGT, and readiness for CGT among living, untested FDRs using transtheoretical model stages of change.


One hundred fifty participants completed the survey and reported 825 FDRs. Overall, 70.3% of FDRs were reportedly aware of the variant and 30.5% had completed CGT. Siblings had higher rates of awareness and CGT than parents or children (p < 0.001). Relatives’ sex was associated with awareness and CGT; mothers were aware and had CGT at higher rates than fathers (p = 0.049 and p < 0.001), sisters were aware and had CGT at higher rates than brothers (p = 0.041 and p = 0.002), and daughters had higher rates of awareness than sons (p = 0.038). Of 340 living, untested FDRs, 79.4% were in the precontemplation stage of change, with no difference by relatives’ sex or relationship to the participant.


Most living, untested FDRs were in precontemplation stage, indicating they are not ready or planning to have CGT within the next six months.

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The authors thank all of the individuals who participated in the study by completing a survey. The authors thank Claire Singletary and Georgia Hurst for advising on study feasibility and recruitment approaches, and Gary Chisholm for advising on statistical methods. We thank the following organizations and individuals who agreed to share the research opportunity with their members and social media followers: Minnesota Ovarian Cancer Alliance (MOCA), SHARE, Facing Our Risk of Cancer Empowered (FORCE), OneInForty, Male Breast Cancer Coalition, Triple-Negative Breast Cancer Foundation, Young Previvors, Pheo Para Alliance, the F.A.P. (Familial Adenomatous Polyposis) Facebook group, Christina Lizaso, Georgia Hurst, and followers of the @CascadeStudy on Twitter. This work was supported by National Institutes of Health/National Cancer Institute (NIH/NCI) award number P30CA016672 (Biostatistics Resource Group), and was completed in fulfillment of an MPH thesis (author E.M.B.). The results of this study are not published or currently under consideration for publication anywhere else. The authors affirm that this manuscript is an honest, accurate, and transparent account of the study and that no important aspects of the study have been omitted. All authors contributed substantially to the study concept, data collection, analysis, writing, and approval of the manuscript. The methods and data collection described in this article were approved by the University of Texas Health Science Center at Houston IRB. A waiver of informed consent was granted by the IRB, given the anonymous data collection strategy.

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Correspondence to Erica M. Bednar MS, MPH.

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Bednar, E.M., Sun, C.C., McCurdy, S. et al. Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet Med (2019).

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  • hereditary cancer
  • cascade testing
  • genetic testing
  • transtheoretical model
  • stage of change