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We are glad to host Dr. Davide Martorana, Senior Molecular Geneticist at the Medical Genetic Lab of the University-Hospital of Parma in Italy, who shared with us his institute’s experience with the adoption of the New Generation SOPHiA DDMTM Platform.
-Hello, Davide, thank you for joining us today for this spotlight! Could you please briefly introduce yourself and describe your role, institution, and the type of services you offer?
-Sure. My name is Davide Martorana, and I am a Senior Molecular Geneticist at the Medical Genetic Lab – a lab at the University Hospital of Parma in Italy.
As a Biologist, I am part of the clinical interpretation team for focused panels and clinical whole exome sequencing for subjects with a suggestive phenotype; after the genetic test, we provide reports with results interpretation.
-Could you please share with us which of the SOPHiA GENETICS applications and services are you currently using?
-We use two different SOPHiA GENETICS solutions, the Nephropathy Solutions (NES) and Hereditary Cancer Solutions (HCS), analysed with SOPHiA DDMTM
-What are the biggest benefits you see in the New Generation SOPHiA DDMTM Platform in terms of new features/ capabilities and user experience?
-First of all, I want to state that we are very happy and satisfied with this evolution of the SOPHiA DDMTM Platform. The feature I prefer is the personalization of the information flow about genetic variants; in fact, I am sure every analyst has a preferred workflow when evaluating a single variant; for example, I like to see immediately the population frequency, both in our single center and for all SOPHiA GENETICS customers; then, the ACMG-AMP classification with specified criteria.
In my opinion, this fact is very important, because when you must manage a lot of variants, it is important to focus fast on a few but essential info, then if you want there is the possibility to access several other additional info; in particular, I appreciate the extensive link-outs to other databases, which are very accurate and useful.
-Thank you for your kind words. Could you please share an example where the SOPHiA DDMTM Platform streamlined your laboratory workflows and supported your clinical research efforts?
-In a specific family, after genetic counseling of a twenty-week-old pregnant woman with a clinical diagnosis of Polycystic Kidney disease 1 - never investigated at a genetic level - we were asked to analyze the woman and the fetus with the Nephropathy solution kit.
After the analysis on the SOPHiA DDMTM Platform, we were able to detect the causative mutation in PKD1 gene in the mother but not in the fetus. The analyses were performed in just three days after receiving the biological samples, which was a very fast turnaround.
After that analysis, we realized the true potential of having an NGS kit coupled with software with fast, reliable, and accurate results, and this is just one simple example.
-It is great to see how our solutions are impacting your real-life clinical research and streamlining your decision-making when it matters the most. On the implementation side, how was your experience with the Setup program for SOPHiA DDMTM in terms of easiness, time spent on validation, and time to routine?
-In our experience, the Setup program for SOPHiA DDMTM was very fast and easy. In fact, after the training with SOPHiA customer support, we spent just a working for validating the entire process and personalizing the information flow before introducing it in the routine analysis. This is very important and efficient for the users.
-And how does your experience with the SOPHiA GENETICS customer support look like?
-I am extremely satisfied with SOPHiA GENETICS customer support because they are efficient and proactive, answering all our queries and addressing our issues in a very short time and with great competence and kindness. I would like to thank you on behalf of the entire team for that.
We would like to warmly thank Dr. Davide Martorana for joining us in this customer spotlight.
Are you interested in exploring how the New Generation SOPHiA DDM Platform can revolutionize your workflows? Check out our recent blog post here!
The term « SOPHIA » used by the speaker refers to SOPHiA GENETICS and its products. The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS. SOPHiA GENETICS does not provide support in the validation of custom products for clinical use. SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution is available as a CE-IVD product for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.
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