This story in the Wall Street Journal about genetic testing shows the speed of changes in the medical community’s understanding of how and whether certain genes cause hereditary disease.
The article quoted Dr. Jodie Ingles, a geneticist from the University of Sydney in Australia who specializes in HCM and has published a recent article on the subject. Dr. Ingles said that 22 out of 33 genes comprising a genetic testing panel commonly used to test for HCM had either limited or no evidence of being disease causative.
These false positives are dangerous, according to Dr. Ingles, because invasive treatment decisions, such as implantable defibrillator (ICD) placement, may be based on this erroneous genetic information.
Though they can be lifesaving if appropriate, ICDs also have potential to cause harm to the patient. ICDs may cause infection, may inappropriately discharge, or they can be subject to lead complications which may necessitate additional surgeries.
You can read more about Dr. Ingles’ research and study results here.
One thought on “Wall Street Journal Highlights Risks in Genetic Testing”
I had my HCM genetic testing done in 2012. Only the specific genes known to cause HCM at that time were tested and the results were negative. I can only imagine what has changed in the last 10 years. I’m wondering is repeat genetic testing or whole genome could give valuable information for my continued treatment? Belonging to an HMO they are usually reluctant to pay for testing that won’t have an impact on treatment or disease outcome.