Journal of Cancer Survivorship

, Volume 7, Issue 4, pp 624–629 | Cite as

Validity of self-reported genetic counseling and genetic testing use among breast cancer survivors

  • Heidi A. Hamann
  • Jasmin A. Tiro
  • Joanne M. Sanders
  • Trisha V. Melhado
  • Rachel K. Funk
  • Melissa Y. Carpentier
  • L. Kay Bartholomew
  • Keith E. Argenbright
  • Sally W. Vernon



Despite the value of genetic counseling (GC) and genetic testing (GT) for high-risk breast cancer survivors, little is known about their uptake and validity of self-report data. This study evaluated the accuracy of self-reported genetic counseling and testing rates among breast cancer survivors.


The current analysis focused on Stage 0-III female breast cancer survivors who were identified from an academic medical center’s cancer registry and responded to a mailed survey (N = 452). Self-reported rates of GC and GT were validated using information from the electronic medical record.


Overall, 30.8 % of survivors reported having seen a genetic counselor in the time period after their breast cancer diagnosis and 33.6 % noted having a genetic test. Concordance and specificity were good for both genetic questions; concordance agreements ranged from 86–88 %, while specificity was 83–86 %. Sensitivity (97–98 %) and negative predictive values (99 %) were excellent, while the positive predictive values for both GC and GT were poor (59–63 %).


Among breast cancer survivors, self-reports of GC and GT were generally accurate, although a subset of respondents overestimated genetic service utilization. Future work should focus on validating GC and GT self-reports in medically underserved populations.

Implications for Cancer Survivors

Genetic counseling and testing are valuable aspects of survivorship care for high-risk breast cancer survivors; accurate understanding of their use is important for survivors, clinicians, and researchers.


Genetic counseling Genetic testing Electronic medical record Validation 


  1. 1.
    American Cancer Society, “Breast Cancer: Detailed Guide,” 2012. [Online]. Available: [Accessed 22 February 2013].
  2. 2.
    Griffith GL, Edwards RT, Gray J. Cancer genetics services: a systematic review of the economic evidence and issues. Br J Cancer. 2004;90(9):1697–703.PubMedGoogle Scholar
  3. 3.
    NCCN, Inc., NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast and ovarian. Inc, Fort Washington: National Comprehensive Cancer Network; 2012.Google Scholar
  4. 4.
    Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Campbell Grumet S, et al. Genetic cancer risk assessment and counseling: recommendations of the National society of Genetic Counselors. J Genet Couns. 2004;13(2):83–114.PubMedCrossRefGoogle Scholar
  5. 5.
    National Cancer Institute, “Genetics of Breast and Ovarian Cancer (PDQ®),” 21 December 2012. [Online]. [Accessed 22 February 2013].
  6. 6.
    National Cancer Institute, “BRCA1 and BRCA2: Cancer Risk and Genetic Testing,” 29 May 2009. [Online]. [Accessed 22 February 2013].
  7. 7.
    Campeau PM, Foulkes WD, Tischkowitz MD. New genetic developments, new therapeutic avenues. Hum Genet. 2008;124(1):31–42.PubMedCrossRefGoogle Scholar
  8. 8.
    Liu Y, Diamant AL, Thind A, Maly RC. Validity of self-reports of breast cancer treatment in low-income, medically underserved women with breast cancer. Breast Cancer Res Treat. 2010;119(3):745–51.PubMedCrossRefGoogle Scholar
  9. 9.
    Barisic A, Gelndon G, Weerasooriva N, Andrulis IL, Knight JA. Accuracy of self-reported breast cancer information among women from the Ontario site of the Breast Cancer Family Registry. J Cancer Epidemiol. 2012;2012:1–11.CrossRefGoogle Scholar
  10. 10.
    Larouche G, Bouchard K, Chiquette J, Desbiens C, Simard J, Dorval M. Self-reported mammography use following BRCA1/2 genetic testing may be overestimated. Fam Cancer. 2011;11(1):27–32.CrossRefGoogle Scholar
  11. 11.
    Phillips K, Milne RL, Buys S, Friedlander ML, Ward JH, McCredie MR, et al. Agreement between self-reported breast cancer treatment and medical records in a population-based breast cancer family registry. J Clin Oncol. 2005;23(21):4679–86.PubMedCrossRefGoogle Scholar
  12. 12.
    Carpentier MY, Tiro JA, Savas SL, Bartholomew LK, Melhado TV, Coan SP, Argenbright KE, Vernon SW. Are cancer registries a viable tool for cancer survivor outreach? A feasibility study. J Cancer Surviv. 2013;7(1):155–63.Google Scholar
  13. 13.
    Tisnado DM, Adams JL, Liu H, Damber CL, Chen WP, Hu FA, Carlisle DM, Mangione CM, Kahn KL. What is the concordance between the medical record and patient self-report as data sources for ambulatory care?. Med Care. 2006;44(2):132–40.Google Scholar
  14. 14.
    Rauscher GH, Johnson TP, Cho YI, Walk JA. Accuracy of self-reported cancer-screening histories: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2008;17(4):748–57.PubMedCrossRefGoogle Scholar
  15. 15.
    Cram P, Fendrick AM, Inadomi J, Cowen ME, Carpenter D, Vijan S. The impact of a celebrity promotional campaign on the use of colon cancer screening: The Katie Couric Effect. Arch Intern Med. 2003;163(13):1601–5.PubMedCrossRefGoogle Scholar
  16. 16.
    Jolie A. My medical choice. Los Angeles: The New York Times: 2013. p. A25.Google Scholar
  17. 17.
    Ruddy KJ, Gelber S, Shin J, Garber JE, Rosenberg R, Przypysny M, et al. Genetic testing in young women with breast cancer: results from a web-based survey. Ann Oncol. 2010;21(4):741–7.PubMedCrossRefGoogle Scholar
  18. 18.
    Brown KL, Hutchison R, Zinberg RE, McGovern MM. Referral and experience with genetic testing among women with early onset breast cancer. Genet Test. 2005;9(4):301–5.PubMedCrossRefGoogle Scholar
  19. 19.
    Baer HJ, Brawarsky P, Murray MF, Haas JS. Familial risk of cancer and knowledge and use of genetic testing. J Gen Intern Med. 2010;25(7):717–24.PubMedCrossRefGoogle Scholar
  20. 20.
    Levy DE, Garber JE, Shields AE. Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med. 2009;24(7):822–8.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Heidi A. Hamann
    • 1
  • Jasmin A. Tiro
    • 1
    • 2
  • Joanne M. Sanders
    • 1
  • Trisha V. Melhado
    • 1
  • Rachel K. Funk
    • 1
  • Melissa Y. Carpentier
    • 2
  • L. Kay Bartholomew
    • 2
  • Keith E. Argenbright
    • 1
    • 3
  • Sally W. Vernon
    • 2
  1. 1.University of Texas Southwestern Medical Center and Harold C. Simmons Cancer CenterDallasUSA
  2. 2.University of Texas School of Public HealthHoustonUSA
  3. 3.Moncrief Cancer InstituteFort WorthUSA

Personalised recommendations