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Recently we spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, about the current stage of testing strategies, in particular the workflow at her hospital. She discussed how they perform many tests at the hospital and not necessarily because there are that many patients but that several tests are performed per patient. Dr. Simonic felt that perhaps all this invasiveness is unnecessary and sought to see how they could consolidate their testing practices and improve their yield while saving time.

"Streamlining the system would benefit both the testing service as well as the patient by decreasing our costs and providing faster turnaround for the patient."


She described the current testing strategy at her hospital which involves a series of tests performed in sequence. Such a strategy can take a long time and is a bottleneck especially now as the hospital is seeing an increasing demand for NGS testing. She feels that consolidating the multi-tiered tests to a single CNV/SNV pipeline would streamline the process and provide faster results to patients.

She ended up choosing BioDiscovery’s NxClinical to address the challenge and further discusses why she chose NxClinical. She describes how she validated extraction of copy number from TruSight One panels using BioDiscovery’s BAM MSR algorithm in NxClinical and then comparing the results to existing microarray results. She goes into detail about how the analysis and interpretation process was with NxClinical, how the results compared to microarray, and what features she found truly useful in NxClinical.

Read the full interview with Dr. Simonic here.