Mutual Matters

Costly Genes: Genetic Testing and Patient Care

Posted by Marshaleen King, MD on Oct 5, 2017 12:23:00 PM

MMIC_Female Patient.jpg

Case scenario

A 28-year-old woman presented to a primary care physician for a new patient visit. The physician conducted a fairly thorough history; however, he obtained the patient’s family history from a patient intake form, which only included questions about hypertension, heart disease and diabetes in family members. The physician neglected to ask the patient about any family history of cancer and failed to revisit her family history at any point during her subsequent follow-up visits.   

Five years later, the patient discovered a lump in her breast and was diagnosed with stage 3 breast cancer. A decision was made to perform BRCA gene testing and the patient was found to be positive for the BRCA1 gene. Her primary care physician then discovered that the patient’s mother, maternal grandmother and maternal aunt all had breast cancer and that her maternal grandmother also had ovarian cancer.


This patient’s family history of breast and ovarian cancer should have raised concern for the presence of the BRCA gene. However, the opportunity to test this patient for the BRCA gene at an earlier point was missed because the physician did not obtain a thorough family history.

Discover more about the BRCA gene, genetic testing and the medical malpractice claims that are related to genetic testing by clicking below. 

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