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J Genet Couns. 2012 Oct;21(5):638-44. doi: 10.1007/s10897-012-9506-x. Epub 2012 May 19.

Personal genomic testing as part of the complete breast cancer risk assessment: a case report.

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  • 1Navigenics, Inc., Foster City, CA 94404, USA. sara.riordan@navigenics.com


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.

[PubMed - indexed for MEDLINE]
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