Preliminary Genetic Report from Athena

I decided to follow up on the results from my Genetic testing, and received a call back from a medical assistant (Brittany) at my doctor’s office stating that Athena had faxed a report to them. She than said that Dr. W. would not be interpreting the report for me; I would need to take it to Children’s Hospital and have the doctor their that requested it review it with me, and I could pick it up whenever it was convenient for me.

I picked up the report expecting some kind of scientific genetic report that would require a trained medical doctor to read being that Dr. W. would not be interpreting it, but for the most part, the results were already detailed in a “preliminary summary” by Athena Diagnostics’ staff.

The report clearly states that it is not final, and should not be relied upon for patient treatment until a complete analysis is finalized. The report did indicate that the partial analysis did detect the presence of one or more known or predicted disease associated mutations as indicated in the technical results area. Under the technical results area it shows positive known disease associated with PKD1 gene and the summary goes into a full description of the difference between PKD1 and PKD2 genes.

I guess I am a little surprised at this point and maybe in a little shock. I have never had problems with high blood pressure or other obvious symptoms for PKD that I was aware of, so seeing what I am interpreting as a positive results for PKD caught me a little off guard.

I did call Brittany and ask that she call me after they receive the final analysis and pointed out that this was only a preliminary report. It really appeared as though no one ever read the report to realize that it was not a final analysis. Part of me thinks I should wait for the final analysis, and the other part of me sees that as denial