Journal of Genetic Counseling

, Volume 24, Issue 5, pp 744–751 | Cite as

Personalized Medicine Through SNP Testing for Breast Cancer Risk: Clinical Implementation

  • Rebecca Howe
  • Talya Miron-Shatz
  • Yaniv Hanoch
  • Zehra B. Omer
  • Cristina O’Donoghue
  • Elissa M. OzanneEmail author
Original Research


Single nucleotide polymorphisms (SNPs) have the potential to improve personalized medicine in breast cancer care. As new SNPs are discovered, further enhancing risk classification, SNP testing may serve to complement family history and phenotypic risk factors when assessed in a clinical setting. SNP analysis is particularly relevant to high-risk women who may seek out such information to guide their decision-making around risk-reduction. However, little is known about how high-risk women may respond to SNP testing with regard to clinical decision-making. We examined high-risk women’s interest in SNP testing for breast cancer risk through an online survey of hypothetical testing scenarios. Women stated their preferences for sharing test results and selected the most likely follow-up action they would pursue in each of the test result scenarios (above average and below average risk for breast cancer). Four hundred seventy-eight women participated. Most women (89 %) did not know what a SNP was prior to the study. Once SNP testing was described, 75 % were interested in SNP testing. Participants stated an interest in lifestyle interventions for risk-reduction and wanted to discuss their testing results with their doctor or a genetic counselor. Women are interested in SNP testing and are prepared to make lifestyle changes based on testing results. Women’s preference for discussing testing results with a healthcare provider aligns with the current trend towards SNP testing in a clinical setting.


Breast cancer Risk assessment SNP testing Decision making 



This work was supported in part by grant number MRSG112037 from the American Cancer Society. Additional resources for this study were obtained from the Cancer Genetics Network (RFA CA-97-004, RFA CA-97-019, RFP No. N01-PC-55049-40), a University of Plymouth award, and a European Research Council Marie Curie Reintegration Grant [No. PIRG7-GA-2010-268224]. These funding sources ensured the authors’ independence in designing the study, interpreting the data, writing, and publishing the report. We would also like to thank Elaine Allen for her guidance with the statistical analysis for this study.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Conflicts of Interest

Rebecca Howe, Talya Miron-Shatz, Yaniv Hanoch, Zehra B. Omer, Cristina O’Donoghue, and Elissa M. Ozanne declare that they have no conflict of interest.


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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Rebecca Howe
    • 1
  • Talya Miron-Shatz
    • 2
  • Yaniv Hanoch
    • 3
  • Zehra B. Omer
    • 4
  • Cristina O’Donoghue
    • 5
    • 6
  • Elissa M. Ozanne
    • 6
    • 7
    Email author
  1. 1.Frank H. Netter MD School of MedicineQuinnipiac UniversityNorth HavenUSA
  2. 2.Center for Medical Decision MakingOno Academic CollegeKiryat OnoIsrael
  3. 3.Department of PsychologyPlymouth UniversityPlymouthUK
  4. 4.School of MedicineUniversity of MassachusettsWorcesterUSA
  5. 5.Department of SurgeryUniversity of Illinois at ChicagoChicagoUSA
  6. 6.Department of SurgeryUniversity of California at San FranciscoSan FranciscoUSA
  7. 7.The Dartmouth Institute for Health Policy and Clinical PracticeLebanonUSA

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