Practice of Medicine


Costly Genes

By: Marshaleen King, MD

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.

The risk for BRCA gene related cancer should be suspected in persons with a personal history or family history of the following:

  • Breast cancer diagnosed at ≤ 50 years
  • Two or more relatives with breast cancer, with one < age 50
  • Three or more relatives with breast cancer at any age
  • Breast cancer diagnosed at any age in an individual of Ashkenazi Jewish ancestry
  • Multiple primary breast cancers (in one or both breasts)
  • A previously identified BRCA1 or BRCA2 pathogenic variant in the family
  • Ovarian cancer
  • Male breast cancer
  • Triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer, particularly when diagnosed < 60 years
  • The combination of pancreatic cancer and/or prostate cancer (Gleason score ≥7) with breast cancer, and/or ovarian cancer

This patient’s increased risk for breast cancer would have been recognized much earlier if BRCA gene testing had been performed when she initially presented to establish care. This in turn could have led to her undergoing a procedure to prevent breast cancer or could have resulted in early initiation of breast cancer screening to ensure that her cancer was diagnosed at an early stage.

Medical malpractice claims related to genetic testing include:

  • Allegations of the physician failing to take a proper family history and therefore failing to recognize the need to perform a genetic test (e.g. not recognizing the need to test for BRCA genes) 
  • Selecting the incorrect type of genetic test
  • Failing to refer patients for genetic counseling
  • Delays in providing patients with their test results, leading to failure to intervene in a timely fashion
  • Incorrect interpretation of test results
  • Failure to recommend the appropriate management strategy based on the level of risk indicated by the test result
  • Failing to disclose results to family members who are at risk for a hereditary disease

Personalized medicine poses a number of challenges. Although genetic testing may help to guide therapy in several instances, it isn’t always practical or economically feasible to obtain these tests on a routine basis. The need to establish guidelines for genetic testing continues to grow in importance as new genetic variations in response to therapy are uncovered and additional links are made between genes and their disease manifestations. Discovery of genetic variations in response to warfarin resulted in the FDA revising the prescribing information for warfarin. The FDA specifically noted that genetic testing before initiation of warfarin therapy is warranted given the genetic variation in a patient’s response to the drug. Position statements on genetic testing from credible organizations, such as the advice given by the FDA regarding warfarin therapy, increases the likelihood that physicians could face malpractice suits if they operate outside of published recommendations.

Strategies to avoid medical malpractice claims related to genetic testing:

  • Know the current guidelines related to screening for genetic diseases, particularly for conditions where timely intervention is crucial
  • Refer patients for genetic counseling (prior to and after testing) to ensure that they understand the implications that test results may have and assure that they receive an accurate interpretation of test results
  • Be aware of any state laws regarding your obligation to inform relatives and the bearing this has on HIPAA
  • Discuss implications for family members with patients before performing genetic tests
  • Avoid performing tests for genes where the clinical significance is still unclear/uncertain 


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The information provided in this resource does not constitute legal, medical or any other professional advice, nor does it establish a standard of care. This resource has been created as an aid to you in your practice. The ultimate decision on how to use the information provided rests solely with you, the PolicyOwner.