We spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, UK, about optimizing and consolidating multiple testing strategies to increase efficiency with increasing testing demand.
Dr. Simonic tells us a little bit about her testing lab where about 15,000 tests performed yearly. She notes that there are many tests not because there is a one-to-one ratio between the number of patients and tests, but because multiple tests are performed per patient. She thinks labs can improve on this by tailoring and consolidating tests to reduce the number of tests per patient.
She goes on to describe the testing process in her lab and proposes a method to streamline which involves consolidating the 2-3 stage constitutional testing workflow and replace it with a single SNV/CNV pipeline. She talks about detection of copy number from NGS panels and comparison with array results in the quest to consolidate to a single test. She discusses how and why she chose NxClinical for this and shares her results on the validation.
“Now that I’ve started using NxClinical, I just can’t go back to analyzing all these variants separately the way I used to.”