Journal of Genetic Counseling

, Volume 21, Issue 5, pp 638–644 | Cite as

Personal Genomic Testing as Part of the Complete Breast Cancer Risk Assessment: A Case Report

  • Sara Riordan
  • David F. Rodriguez
  • Shannon Kieran
Case Presentation


Patient access and utilization of personal genomic testing is becoming increasingly common. We present a case of a patient’s personal genomic screening results leading to early detection of infiltrating breast ductal cell carcinoma via MRI scan. This case exemplifies the successful integration of personal genomic testing into the primary care setting, with the guidance and support of genetic counseling services. We discuss the scientific basis of the patient’s genome scan results and risk assessment, and how this informed her decision-making and subsequent screening. We also expound upon the role of personal genomic testing as compared to other screening tests in the complete breast cancer risk assessment.


Genomics Personalized medicine Personal genomic testing Breast cancer SNP Case report Genome scan Risk assessment 



The authors would like to acknowledge Heather Trumbower for her bioinformatics expertise and contributions to the manuscript. We would also like to thank Elissa Levin, April Lynch and Brenna Sweeney for their critical review of the manuscript.

Disclosure of Interest

All contributing authors have consented to the publication of this material, they have full control of all primary data and they agree to allow the journal to review the data if requested. Two of the authors were employed by Navigenics, Inc. at the time of manuscript submission.


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Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Sara Riordan
    • 1
  • David F. Rodriguez
    • 2
  • Shannon Kieran
    • 1
  1. 1.Navigenics, Inc.Foster CityUSA
  2. 2.Sandy Springs Internal Medicine, P.C.AtlantaUSA

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