A case of inappropriate apolipoprotein e testing in alzheimer's disease due to lack of an informed consent discussion

摘要

Background/Objective: Apolipoprotein E (APOE) genetic testing is used to assist in the diagnosis of Alzheimers Disease (AD). Whenever genetic testing is performed, an informed consent process should occur.Methods: In this case, a patient with memory loss presented to the neurologist. The neurologist ordered a lumbar puncture (LP). The LP was performed by a neuroradiologist who also ordered APOE genetic testing. The patient received no genetic counseling, nor was an informed consent document offered.Results: After the testing was completed, the neurologist faced an ethical dilemma. His solution was to offer the genetic testing to the patient in order to have an informed consent process. It was clear that the patient and her adult children did not want the genetic testing and that they would have been burdened with the results. The neurologist opted not to disclose the results.Conclusion: Genetic counseling and a signed informed consent document are required prior to any genetic testing. In this case, neither occurred and it led to an ethical dilemma that was ultimately resolved by the neurologist. As the population ages and AD becomes more prevalent, there is a need to expand the workforce of genetic counselors and educate physicians who commonly treat AD about genetic testing.