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

  • Case Presentation
  • Published:
Journal of Genetic Counseling

Abstract

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.

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Acknowledgements

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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Authors and Affiliations

  1. Navigenics, Inc., 1001 E. Hillsdale Blvd, Suite 550, Foster City, CA, 94404, USA

    Sara Riordan & Shannon Kieran

  2. Sandy Springs Internal Medicine, P.C., Atlanta, Georgia, USA

    David F. Rodriguez

Authors
  1. Sara Riordan
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  2. David F. Rodriguez
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  3. Shannon Kieran
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Corresponding author

Correspondence to Sara Riordan.

Appendix A: Health Conditions Included in patient’s PGT Risk Assessment in 2009

Appendix A: Health Conditions Included in patient’s PGT Risk Assessment in 2009

Abdominal aneurysm

Alzheimer’s disease

Atrial fibrillation

Brain aneurysm

Breast cancer

Celiac disease

Colon cancer

Crohn’s disease

Deep vein thrombosis

Diabetes, type 2

Glaucoma

Grave’s disease

Heart attack

Hemochromatosis, HFE-related

Lactose intolerance

Lung cancer

Lupus

Macular degeneration

Melanoma

Multiple sclerosis

Obesity

Osteoarthritis

Psoriasis

Restless leg syndrome

Rheumatoid arthritis

Sarcoidosis

Stomach cancer, diffuse

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Riordan, S., Rodriguez, D.F. & Kieran, S. Personal Genomic Testing as Part of the Complete Breast Cancer Risk Assessment: A Case Report. J Genet Counsel 21, 638–644 (2012). https://doi.org/10.1007/s10897-012-9506-x

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  • DOI: https://doi.org/10.1007/s10897-012-9506-x

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