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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American College of Obstetricians and Gynecologists. Cascade testing: testing women for known hereditary genetic mutations associated with cancer. ACOG Committee Opinion No. 727. Obstet Gynecol. 2018;131:31–34.
Caswell-Jin JL, Zimmer AD, Stedden W, et al. Cascade genetic testing of relatives for hereditary cancer risk: results of an online initiative. J Natl Cancer Inst. 2019;111:95–98.
National Comprehensive Cancer Network. Clinical practice guidelines in oncology. Genetic/familial high-risk assessment: breast and ovarian. 2018. http://www.nccn.org.
National Comprehensive Cancer Network. Clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. 2018. http://www.nccn.org.
Jacks T, Jaffee E, Singer D. Cancer Moonshot Blue Ribbon Panel report. 2016. https://www.cancer.gov/research/key-initiatives/moonshot-cancer-initiative/blue-ribbon-panel/blue-ribbon-panel-report-2016.pdf.
EGAPP Working Group. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35.
Lancaster JM, Powell CB, Chen LM, Richardson DL, Committee SGOCP. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2015;136:3–7.
Menko FH, ter Stage JA, van der Kolk LE, et al. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam Cancer. 2019;18:127–135.
Gaff CL, Clarke AJ, Atkinson P, et al. Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet. 2007;15:999.
Prochaska JO, Velicer WF. The transtheoretical model of health behavior change. Am J Health Promot. 1997;12:38–48.
Prochaska JO, ReddingCA. Evers KE. The transtheoretical model and stages of change. In: Glanz B, Rimer BK, Viswanath K, editors. Health behavior: theory, research, and practice. 5th edition. San Francisco, CA: Jossey-Bass; 2015. p. 125.
O'Neill SM, Peters JA, Vogel VG, Feingold E, Rubinstein WS. Referral to cancer genetic counseling: are there stages of readiness? Am J Med Genet C Semin Med Genet. 2006;142C:221–231.
Jacobsen PB, Valdimarsdottir HB, Brown KL, Offit K. Decision-making about genetic testing among women at familial risk for breast cancer. Psychosom Med. 1997;59:459–466.
Kasting ML, Conley CC, Hoogland AI. et al. A randomized controlled intervention to promote readiness to genetic counseling for breast cancer survivors. Psychooncology. 2019;28:980–988.
Adam MP, Ardinger HH, Pagon RA, et al. (eds.) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. https://www.ncbi.nlm.nih.gov/books/NBK1116/.
Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: Johns Hopkins University; 1998–2019. https://www.ncbi.nlm.nih.gov/omim.
Bradbury AR, Patrick-Miller L, Egleston BL, et al. When parents disclose BRCA1/2 test results: their communication and perceptions of offspring response. Cancer. 2012;118:3417–3425.
Gaff CL, Collins V, Symes T, Halliday J. Facilitating family communication about predictive genetic testing: probands’ perceptions. J Genet Couns. 2005;14:133–140.
Montgomery SV, Barsevick AM, Egleston BL, et al. Preparing individuals to communicate genetic test results to their relatives: report of a randomized control trial. Fam Cancer. 2013;12:537–546.
Daly MB, Montgomery S, Bingler R, Ruth K. Communicating genetic test results within the family: is it lost in translation? A survey of relatives in the randomized six-step study. Fam Cancer. 2016;15:697–706.
Suthers GK, Armstrong J, McCormack J, Trott D. Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet. 2006;43:665–670.
Hodgson J, Metcalfe S, Gaff C, et al. Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication. Eur J Hum Genet. 2016;24:356–360.
Forrest LE, Burke J, Bacic S, Amor DJ. Increased genetic counseling support improves communication of genetic information in families. Genet Med. 2008;10:167.
Kardashian A, Fehniger J, Creasman J, Cheung E, Beattie MS. A pilot study of the Sharing Risk Information Tool (ShaRIT) for families with hereditary breast and ovarian cancer syndrome. Hereditary cancer in clinical practice. 2012;10:4–4.
Aktan-Collan K, Haukkala A, Pylvänäinen K, et al. Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet. 2007;44:732–738.
McKinnon W, Naud S, Ashikaga T, Colletti R, Wood M. Results of an intervention for individuals and families with BRCA mutations: a model for providing medical updates and psychosocial support following genetic testing. J Genet Couns. 2007;16:433–456.
de Geus E, Eijzenga W, Menko FH, et al. Design and feasibility of an intervention to support cancer genetic counselees in informing their at-risk relatives. J Genet Couns. 2016;25:1179–1187.
Roberts MC, Dotson WD, DeVore CS, et al. Delivery of cascade screening for hereditary conditions: a scoping review of the literature. Health Affairs. 2018;37:801–808.
Sweeny K, Ghane A, Legg AM, Huynh HP, Andrews SE. Predictors of genetic testing decisions: a systematic review and critique of the literature. J Genet Couns. 2014;23:263–288.
Bartholomew Eldredge LK, Markham CM, Ruiter RAC, Fernandez ME, Kok G, Parcel GS. Planning health promotion programs: an intervention mapping approach. 4th ed. San Francisco, CA: Jossey-Bass; 2016.
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.
The authors declare no conflicts of interest.
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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). https://doi.org/10.1038/s41436-019-0735-3
- hereditary cancer
- cascade testing
- genetic testing
- transtheoretical model
- stage of change