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Helen Fernandes

Adequacy of cytology specimens - FNA's, smears and liquid for interrogation of genomic variants

Minimally invasive diagnostic procedures, such as needle core biopsies or fine needle aspiration (FNA) often provide adequate material for molecular analyses. Additionally, the supernatant from cytology rinse material collected in methanol based, buffered preservative solutions promises to be useful for some molecular based assays. An advantage of using cytology samples in nucleic acid based diagnostics is that they often provide superior quality of DNA / RNA for genomic analysis. The challenges faced include tumor cellularity and heterogeneity. This presentation will address the pros and cons of using cytology material for genomic testing.

Helen Fernandes PhD, is an Associate Professor of Pathology in the Department of Pathology and Cell Biology and the Co-director of Genomic Oncology in the Personalized Genomic Medicine Laboratory, at Columbia University Medical Center. She has over 20 years of experience in Molecular Pathology and implemented clinical NGS assays for the detection of somatic variants in cancer at Weill Cornell Medicine. Dr. Fernandes is involved in the training and education of molecular diagnosticians and has presented at several meetings and webinars nationally and internationally. She is an active member of several organizations including, Association for Molecular Pathology (AMP) and American Association for Clinical Chemistry (AACC).