Adverse Events in Genetic Testing: The Fourth Case Series.

Area of Science:

• Genetics
• Genomics
• Medical Error

Background:

• Genetic testing is increasingly prevalent across various medical specialties.
• Adverse events in genetic testing can arise from multiple points in the testing process.

Purpose of the Study:

• To document and analyze new cases of incorrect genetic testing recommendations, orders, interpretations, and utilization.
• To highlight the types and frequency of errors in genetic testing.

Main Methods:

• A national case series was conducted, soliciting submissions of adverse events in genetic testing.
• Cases were collected from professional networks and social media, with thematic analysis performed on accepted submissions.

Main Results:

• Twenty-six cases were analyzed, revealing errors in test ordering (8 cases), interpretation (3 cases), and communication of results (2 cases).
• Specific errors included ordering the wrong test, misinterpreting results, inadequate pre- and post-test counseling, and erroneous laboratory documentation.

Conclusions:

• Ensuring appropriate genetic testing and accurate interpretation is critical as testing becomes more complex.
• Addressing workforce limitations for genetic counselors and improving genetics education for all healthcare professionals are essential to mitigate errors.