Genetic Counseling Expert Discusses Implications of Inaccurate Test Results

This case involves a parent who underwent testing for the genetic markers of a particular form of muscular dystrophy. The mother originally requested the testing after having a son who was afflicted with the disease. After submitting to the test, the woman was informed that she was not a carrier of the disease by a genetic counselor over the phone. On this information, the plaintiff and her husband had a second child, who was also afflicted by the same form of muscular dystrophy.

Question(s) For Expert Witness

1. Do you counsel patients with this form of muscular distrophy?

2. What is the protocol to inform a patient of their testing results?

Expert Witness Response E-017913

I do not counsel patients with this disease specifically because they receive counseling in a specific clinic. However, I do counsel individuals with other X-linked recessive diseases. Patients are given testing results over the phone followed by a letter summarizing the information provided, along with a copy of any test results. I teach medical students and genetic counseling students about the process of result disclosure, documentation, and the unique aspects of X-linked diseases.