case report

Digging Deeper into a Promethease Finding Before Accepting It as Truth

Digging Deeper into a Promethease Finding Before Accepting It as Truth

I recently worked with a client who was adopted and had used a raw data file and the Promethease tool as an avenue to obtain some health/medical information for herself.

This case gets a little complicated but please stick with it; it demonstrates a lot of the areas where there is weakness in our understanding and communication of medical genetics data.

The case also highlights the importance of doing deeper investigation of findings that show up on a Promethease report, before accepting the report’s summary at face value. I write about 23andMe and Promethease in the summary, but my conclusion is true for any tool (Genetic Genie, Sequencing.com reports, etc.) run on any raw data file (AncestryDNA, MyHeritage, etc).