2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Validation of a Digital FISH Analysis Workflow in an Academic Reference Laboratory

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This document discusses the validation of a digital FISH (fluorescence in situ hybridization) analysis workflow in an academic reference laboratory. The benefits of using digital analysis include standardization, software tools for quality improvement, reduced space needs, and flexibility in meeting workforce needs. The study used the Applied Spectral Imaging (ASI) image capture system and a 2-scorer method. The workflow involved scanning and digitizing slides for analysis on a computer. The accuracy of digital probes was compared to manual methods, with a requirement of 100% concordance for qualitative results. Digital analysis time was measured and compared to manual analysis time, with the former being longer on average. Different imaging settings were evaluated, and the quality was measured based on the percentage of cells scored. It was found that the quality was similar for both 3D and Z-stack settings, but the latter had a smaller file size and shorter scan time. The document also discusses the considerations involved in implementing a digital FISH analysis workflow, such as training requirements, data management needs, and cost considerations. The validation results for nine heme FISH probes showed higher reference range cutoffs compared to manual scoring, but equivalent quality in terms of probe signal intensity and background. The document concludes by mentioning future directions, including additional probe validations and optimization of analysis speed and workflows.

Asset Subtitle

Presenting Author - Maria C. Longhurst, MS; Co-Author - Emily Aston, CG(ASCP) CM; Co-Author - Jodi Zockle, CG(ASCP) CM; Co-Author - Wenhua Zhou, PhD; Co-Author - Leslie Rowe, M.S., CT(ASCP); Co-Author - Kimberly Frizzell, PhD; Co-Author - Eric Fredrickson, PhD; Co-Author - Kathryn R. O'Brien, CG(ASCP) CM; Co-Author - Marshall Priest, CG(ASCP) CM; Co-Author - Chantry J. Clark, C(ASCP)CM; Co-Author - Bo Hong, MD, FACMG; Co-Author - Erica F. Andersen, PhD, FACMG;

Meta Tag

Pathology

Methodology

FISH

Cytogenetics

Clinical Cytogenetics

Clinical Applications of Molecular Cytogenetics

Chromosomal Abnormalities

Cancer Cytogenetics

Co-Author Erica F. Andersen, PhD, FACMG

Co-Author Bo Hong, MD, FACMG

Co-Author Chantry J. Clark, C(ASCP)CM

Co-Author Marshall Priest, CG(ASCP) CM

Co-Author Kathryn R. O'Brien, CG(ASCP) CM

Co-Author Eric Fredrickson, PhD

Co-Author Kimberly Frizzell, PhD

Co-Author Leslie Rowe, M.S., CT(ASCP)

Co-Author Wenhua Zhou, PhD

Co-Author Jodi Zockle, CG(ASCP) CM

Co-Author Emily Aston, CG(ASCP) CM

Presenting Author Maria C. Longhurst, MS

Keywords

digital FISH analysis

fluorescence in situ hybridization

academic reference laboratory

standardization

software tools

Applied Spectral Imaging

scanning and digitizing slides

qualitative results

imaging settings

heme FISH probes