Skip to 0 minutes and 0 seconds Katia is 38 years old and she reports that her right calf is swollen and painful. She had a deep vein thrombosis last year and she suspects that she now has a recurrence. Katia has a family history of thrombophilia and she’s a carrier for a common polymorphism known as factor 5 leiden. Last year, when Katie was treated with warfarin, she needed very frequent blood tests. Her doctor had told her that it was particularly difficult to get the right dose for her. This time, her doctor wonders if they could target the correct dose more easily if they started with a pharmacogenetic test.
Clinical scenario: using genetic tests to tailor treatment protocols
Please read the scenario and then watch the video. Then identify any terminology and concepts that you want to know more about. These will be addressed in our tutorials and suggested background reading.
The clinical scenario
Katia is 38 years old, she reports that her right calf is swollen and painful. She had a deep venous thrombosis last year she and suspects that it has recurred. Her family has a tendency to thrombophilia and Katia is homozygous for a polymorphism referred to as Factor 5 Leiden.
She was treated with warfarin for several months last year, but is very concerned about having to start taking warfarin again. Her warfarin dose was adjusted with the aim of a target INR of 2.5. However, she needed very frequent blood tests and dose changes, and her doctor said it was difficult to get the right warfarin dose, perhaps due to her ‘genes’.
She and her doctor discuss whether phamacogenetic testing could be useful.
© University of East Anglia