Imagine attending a meeting where you can present your lab's unique cases and receive unfiltered, honest feedback on possible solutions, what tools seem to work best, and even how the biggest names in the space are trying to solve the same problems. This is what it was like to attend the Southern California Regional Cytogenetics & Molecular Genetics Meeting last week, hosted by the Children's Hospital of Los Angeles Center for Personalized Medicine. The purpose of the meeting was to foster open discussion on the best strategies to detect disease-causing copy number abnormalities in clinical samples.The guest speaker was Dr. Alka Chaubey, Head of Cytogenomics of Perkin-Elmer Genomics (PE). In an exciting presentation titled, "Copy number abnormality detection from low-depth whole genome sequencing (WGS) data", Dr. Chaubey discussed her work at PE to bring CNV detection from WGS to the market at scale. She discussed the full-breadth of the project, from the technical validation process to ongoing negotiations with the Centers for Medicaid and Medicare Services to reimburse for WGS testing. As PE becomes successful, other labs stand to benefit from their experience. If you missed it, can register for her upcoming webinar here.
The second half of the meeting consisted of "Interesting Case Presentations", where cytogeneticists and molecular geneticists shared information in an open-forum. Presentations were given by Dr. Jenny Ji from the Children's Hospital of Los Angeles, Dr. Ryan Schmidt from the Keck School of Medicine at USC and Dr. Abbas Padeganeh from City of Hope. The outcome of these presentations was some very insightful feedback both for the presenters and members of the audience. Dr. Padeganeh's presentation was particularly engaging, as he presented a difficult case with no clear outcome, sparking lively debate among audience members who disagreed on the correct interpretation.
The next regional meeting will take place in January, 2019 (Location: TBD). In the meantime, we at BioDiscovery are thrilled to be a part of the cytogenetics and molecular genetics community in Southern California!