Skip to main content

Advertisement

SpringerLink
Log in

Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share Genetic Results with Underage Children

  • Published:
Journal of Cancer Education Aims and scope Submit manuscript

Abstract

Although most parents carrying a BRCA1/2 genetic mutation share their test result with their underage children, they report needing support to decide if, when, and how to share risk information and what reactions to expect from their children. We developed a tool to guide parents carrying a BRCA1/2 mutation share their genetic result with underage children. Here, we report on the development of this tool using a qualitative methodology. A tool prototype was developed based on the International Patient Decision Aids Standards Collaboration framework. Content was assessed using feedback from focus groups, individual interviews, and a 12-item reading grid. Participants were nine BRCA1/2 mutation carriers with underage children and three cancer genetics health professionals. Thematic content analysis was conducted on interview transcripts. The tool was developed using an iterative process until saturation of data. An independent advisory committee was involved in all steps of tool development until reaching consensus. Rather than a decision aid per se (to communicate or not), the parents wanted a more comprehensive tool to help them communicate genetic test result to their children. To meet parents’ needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips, and parents’ testimonies. This communication tool responds to a significant unmet need faced by parents carrying a genetic predisposition to cancer. Future studies are needed to assess how the information from the parent’s genetic test result impacts the child’s development, health behaviors, and relationship with the parent.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB (2015) Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 97(1):6–21

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Bradbury AR, Dignam JJ, Ibe CN, Auh SL, Hlubocky FJ, Cummings SA, White M, Olopade OI, Daugherty CK (2007) How often do BRCA mutation carriers tell their young children of the family’s risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. J Clin Oncol 25(24):3705–3711. doi:10.1200/JCO.2006.09.1900

    Article  PubMed  Google Scholar 

  3. Bradbury AR, Patrick-Miller L, Egleston BL, Schwartz LA, Sands CB, Shorter R, Moore CW, Tuchman L, Rauch P, Malhotra S (2012) Knowledge and perceptions of familial and genetic risks for breast cancer risk in adolescent girls. Breast Cancer Res Treat 136(3):749–757

    Article  PubMed  PubMed Central  Google Scholar 

  4. Bradbury AR, Patrick-Miller L, Pawlowski K, Ibe CN, Cummings SA, Hlubocky F, Olopade OI, Daugherty CK (2009) Learning of your parent’s BRCA mutation during adolescence or early adulthood: a study of offspring experiences. Psychooncology 18(2):200–208. doi:10.1002/pon.1384

    Article  PubMed  PubMed Central  Google Scholar 

  5. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333. doi:10.1200/JCO.2006.09.1066

    Article  PubMed  PubMed Central  Google Scholar 

  6. Coulter A, Stilwell D, Kryworuchko J, Mullen PD, Ng CJ, Van der Weijden T (2013) A systematic development process for patient decision aids. BMC Med Inform Decis Mak 13(Suppl 2):S2

    Article  PubMed  PubMed Central  Google Scholar 

  7. Dibie-Krajcman D (2011) La loi no 2011-814 du 7 juillet 2011 relative à la bioéthique–Panorama. La Revue Sage-Femme 10(6):272–274

    Article  Google Scholar 

  8. Dorval M, Bouchard K, Chiquette J (2014) Systematic review of educational tools used during the BRCA1/2 genetic testing process. Per Med 11(1):113–124

    Article  CAS  Google Scholar 

  9. Finkler L, Mykitiuk R, Nisker J, Pioro M (2014) Understanding the use of’Genetic Predisposition’in Canadian Legal Decisions. Revue de droit et santé de McGill 7(1):1–65

    Google Scholar 

  10. Forrest K, Simpson SA, Wilson BJ, Van Teijlingen E, McKee L, Haites N, Matthews E (2003) To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet 64(4):317–326

    Article  CAS  PubMed  Google Scholar 

  11. Gadducci A, Biglia N, Cosio S, Sismondi P, Genazzani AR (2010) Gynaecologic challenging issues in the management of BRCA mutation carriers: oral contraceptives, prophylactic salpingo-oophorectomy and hormone replacement therapy. Gynecol Endocrinol 26(8):568–577

    Article  PubMed  Google Scholar 

  12. Hughes C, Lerman C, Schwartz M, Peshkin BN, Wenzel L, Narod S, Corio C, Tercyak KP, Hanna D, Isaacs C (2002) All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet A 107(2):143–150

    Article  Google Scholar 

  13. Joly Y, Ngueng FI, Simard J (2013) Genetic discrimination and life insurance: a systematic review of the evidence. BMC Med 11(1):1

    Article  Google Scholar 

  14. Lafrenière D, Bouchard K, Godard B, Simard J, Dorval M (2013) Family communication following BRCA1/2 genetic testing: a close look at the process. J Genet Couns 22(3):323–335. doi:10.1007/s10897-012-9559-x

    Article  PubMed  Google Scholar 

  15. Moorman PG, Havrilesky LJ, Gierisch JM, Coeytaux RR, Lowery WJ, Urrutia RP, Dinan M, McBroom AJ, Hasselblad V, Sanders GD (2013) Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis. J Clin Oncol 31(33):4188–4198

    Article  CAS  PubMed  Google Scholar 

  16. O’Connor AM, Stacey D, Barry MJ, Col NF, Eden KB, Entwistle V, Fiset V, Holmes-Rovner M, Khangura S, Llewellyn-Thomas H (2007) Do patient decision aids meet effectiveness criteria of the international patient decision aid standards collaboration? A systematic review and meta-analysis. Med Decis Mak 27(5):554–574

    Article  Google Scholar 

  17. Patenaude, A F., T A. DeMarco, B N. Peshkin, H Valdimarsdottir, J E. Garber, K A. Schneider, L Hewitt, J Hamilton, and K P. Tercyak. 2012. Talking to children about maternal BRCA1/2 genetic test results: a qualitative study of parental perceptions and advice. J Genet Couns: 1–12

  18. Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE (2006) Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol 24(4):700–706. doi:10.1200/JCO.2005.01.7541

    Article  PubMed  Google Scholar 

  19. Peshkin BN, Demarco TA, Tercyak KP (2010) On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children. Familial Cancer 9(1):89–97. doi:10.1007/s10689-009-9267-3

    Article  PubMed  Google Scholar 

  20. Peterson EA, Milliron KJ, Lewis KE, Goold SD, Merajver SD (2002) Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population. Cancer Epidemiol Biomark Prev 11(1):79–87

    Google Scholar 

  21. Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D (2012) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat 33(4):690–702

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Sharff ME, DeMarco TA, Mays D, Peshkin BN, Valdimarsdottir HB, Garber JE, Schneider KA, Patenaude AF, Tercyak KP (2012) Parenting through genetic uncertainty: themes in the disclosure of breast cancer risk information to children. Genet Test Mol Biomarkers 16(5):376–382. doi:10.1089/gtmb.2011.0154

    Article  PubMed  PubMed Central  Google Scholar 

  23. Tercyak KP, Mays D, DeMarco TA, Peshkin BN, Valdimarsdottir HB, Schneider KA, Garber JE, Patenaude AF (2013) Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children. Cancer Epidemiol Biomark Prev 22(7):1260–1266. doi:10.1158/1055-9965.EPI-13-0198

    Article  Google Scholar 

  24. Tercyak KP, Peshkin BN, DeMarco TA, Brogan BM, Lerman C (2002) Parent-child factors and their effect on communicating BRCA1/2 test results to children. Patient Educ Couns 47(2):145–153

    Article  PubMed  Google Scholar 

  25. Tercyak KP, Peshkin BN, Demarco TA, Patenaude AF, Schneider KA, Garber JE, Valdimarsdottir HB, Schwartz MD (2007) Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children. Genet Test 11(3):249–255. doi:10.1089/gte.2006.0534

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgments

This project was supported by the Quebec Breast Cancer Foundation and Ariane Santerre-Theil was recipient of a scholarship from the Faculty of Pharmacy, Laval University, Quebec. We also thank Claudia Côté, Marie-Claire Binet, Johanne Richard, and Christine Wilmart for the revision and comments, CORAMH for their input and Ursula Donovan for the linguistic revision.

Author information

Authors and Affiliations

  1. Faculté de pharmacie, Université Laval, Quebec, Canada

    Ariane Santerre-Theil, Dominique St-Pierre & Michel Dorval

  2. Centre des maladies du sein Deschênes-Fabia, Quebec, Canada

    Ariane Santerre-Theil, Karine Bouchard, Dominique St-Pierre, Anne-Marie Drolet, Jocelyne Chiquette & Michel Dorval

  3. Centre de Recherche du CHU de Québec, Université Laval, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, Québec, G1S 4L8, Canada

    Ariane Santerre-Theil, Karine Bouchard, Dominique St-Pierre, Anne-Marie Drolet, Jocelyne Chiquette & Michel Dorval

Authors
  1. Ariane Santerre-Theil
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Karine Bouchard
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Dominique St-Pierre
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Anne-Marie Drolet
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jocelyne Chiquette
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Michel Dorval
    View author publications

    You can also search for this author in PubMed Google Scholar

Consortia

on behalf of Centre ROSE

Corresponding author

Correspondence to Michel Dorval.

Ethics declarations

Conflict of Interest

The authors declare that they have no conflict of interest.

Electronic supplementary material

ESM 1

(PDF 2053 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Santerre-Theil, A., Bouchard, K., St-Pierre, D. et al. Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share Genetic Results with Underage Children. J Canc Educ 33, 569–575 (2018). https://doi.org/10.1007/s13187-016-1127-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13187-016-1127-x

Keywords

Search

Navigation