Precision Medicine

The Personalized Health Care Committee presents resources which focus on emerging areas of precision medicine. This includes brief, relevant articles by CAP members that enable the reader to gain a better understanding of a particular area of precision medicine. Examples include pharmacogenetics, immune response genes, and the latest in the molecular drivers of cancer. Articles often include curated references so readers may learn more about a particular subject area.

We hope you find these resources useful, and if you have ideas for topics you would like to learn more about please do not hesitate to email us.

The following articles and presentation were developed by members of the Personalized Health Care Committee and cover a variety of precision medicine topics.
 

• Immunohistochemical Surrogates of Molecular Genetic Alterations in Soft Tissue Tumors; Maria Del Carmen Rodriguez Pena, MD, Jason L. Hornick, MD, PhD, June 25, 2025
• CHIPping at inflammation; Marcello Pecoraro Toscano, MD, Genevieve M. Crane, MD, PhD, May 15, 2025
• Allogeneic Cellular Therapy – Diagnostic Challenges and Opportunities for Laboratory Practice; Fabienne Lucas, MD, PhD, FCAP, April 9, 2025
• Molecular Biomarkers in Salivary Gland Neoplasms; Gloria H. Sura, MD, FCAP, and Jessica S. Thomas, MD, PhD, MPH, FCAP, March 5, 2025
• DNA Methylation to the Rescue: An Update for Pathologists Navigating the Future of Precision Tumor Diagnostics; Matthew Hiemenz, MD, MS, FCAP and Justin Chang, MD, January 8, 2025
• Pathologists at the Forefront: Shaping the Future of Cancer Treatment with Molecular Tumor Boards; Michael Barnes, MD and Erin Cobain, MD, November 27, 2024
• Post-COVID-19 Blood Supply Challenges: Requests for Blood from Unvaccinated Donors; Kamran Urgun, MD and Gagan Mathur, MD, MBA, CPE, FCAP, October 30, 2024
• An Emerging Role of Pathologists in KRAS Mutation Testing and Targeted Treatment; Jinjuan Yao, MD, PhD, FCAP; Jing Wang, MD, September 30, 2024
• ESR1 Mutations in Hormone Receptor Positive Breast Cancer; Jordan Laser, MD, Aug 2, 2024
• BCL2-Rearrangement Negative Follicular Lymphomas: Oh No, Say It Ain’t So!; Annette S. Kim, MD, PhD, FCAP; Mark Girton, MD; Anup Jnawali, MD, July 17, 2024
• Homologous Recombination Repair Deficiency (HRD): Brief Review of the Clinical Implication and Methodology of Measurement; Katherine Gui; Chung-Che (Jeff) Chang, MD, PhD, May 29, 2024
• HER2/ERBB2 Testing in Colorectal Cancer; Joseph E. Willis, MD, FCAP, May 1, 2024
• HER2-Low Breast Carcinoma; Ronald Paler, MD, FCAP, April 3, 2024
• Emerging Family of Spindle Cell Neoplasms with Kinase Fusions; Esther Baranov, MD; Jason L. Hornick, MD, PhD, February 22, 2024
• Genetic Counselors: Your Partners in Laboratory Medicine; Jacquelyn D. Riley, MS, CGC, LGC; Matthew W. Anderson, MD, PhD, FCAP, January 17, 2024
• Advancements in Transfusion Medicine: Towards the Era of Universal Blood; Roksolana Demianets, MD, Sumayya Aslam, MD; Gagan Mathur, MD, MBA, CPE, FCAP, November 1, 2023
• Revolutionizing Inflammatory Bowel Disease Histology Assessment Through Artificial Intelligence; Eric Walk, MD, FCAP; Fedaa Najdawi, MD, FCAP, October 4, 2023
• Updates in Glioma and Meningioma Classification – WHO 2021 & New Entities in the Literature; Sahara Cathcart, MD, Allison Cushman-Vokoun, MD, PhD, September 13, 2023
• Molecular Diagnosis and Targeted Treatment of Pancreatic and Biliary Cancers; Jinjuan Yao, MD, PhD, FCAP, August 23, 2023
• Is it Magic? Artificial Intelligence Integration into Clinical Cytometry Workflows; Joshua Lewis, MD, PhD; Fabienne Lucas, MD, PhD; Chung-Che (Jeff) Chang, MD, PhD, July 5, 2023
• Pharmacogenetics: A Tool for Precision Medical Therapy; Bradley Grant, MD, JD; Jordan Laser, MD, June14, 2023
• Optical Genome Mapping: A ‘Tool’ with Significant Potential from Discovery to Diagnostics; Samuel Brody, MS; Adrian M. Dubuc, PhD, FACMG; Annette S. Kim, MD, PhD, FCAP, May 10, 2023
• What’s new in AML Classification (WHO 2022 vs International Consensus Classification); Chung-Che (Jeff) Chang, MD, PhD, FCAP and Amirah Kuzu, MD, March 29, 2023
• Phosphorylated Alpha-Synuclein in Assessment of Neurodegenerative Disease; Ronald Paler, MD, FCAP, January 11, 2023
• CAR T-Cells Therapies: Opportunities and Challenges; Valentina Zanfagnin, MD and Gagan Mathur, MD, MBA, CPE, FCAP, November 30, 2022
• Next Generation Anatomic Pathology: Innovative Imaging Technologies on the Horizon; Iny Jhun, MD, ScD; Eric Walk, MD, FCAP, October 5, 2022
• Genomic Alterations as Predictors of Immunotherapy Response; Jinjuan Yao, MD, PhD, FCAP, August 16, 2022
• Molecular Subclassifications of DLBCL; Annette S. Kim, MD, PhD, FCAP; Fabienne Lucas, MD, PhD, July 14, 2022
• Doing a Lot with a Little: Molecular Testing on Cytology Specimens; Annette S. Kim, MD, PhD, FCAP; Vladislav V. Makarenko, MD, PhD, June 28, 2022
• Biomarker Testing in Gastrointestinal Stromal Tumors (GIST); Chung-Che (Jeff) Chang, MD, PhD, FCAP, May 20, 2022
• Molecular Diagnostics in Sarcoma Pathology; Matthew Hiemenz, MD, MS, FCAP, March 31, 2022
• The 'Liquid' Biopsy; Damon R. Olson, MD, FCAP, Updated March 22, 2022
• Machine Learning in Pathology: The Potential to Predict the Future for Patients; Michael Drage, MD, PhD, FCAP; Archit Khosla, MS; Mary Lin, PhD; Vicki Mountain, PhD; Eric Walk, MD, FCAP, January 4, 2021
• The Updates of Molecular Testing in T-cell Malignancies; Jinjuan Yao, MD, PhD, FCAP, November 18, 2021
• CHIPping Away at CHIP (Or What It Means If Your Heme or Solid Tumor NGS Panel Identifies CH); Annette S. Kim MD, PhD, FCAP, June 29, 2021
• Biomarker Testing for Lung Adenocarcinoma in 2021-Summary for Practicing Pathologist; Chung-Che Chang, MD, PhD, FCAP, June 7, 2021

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Next Generation Sequencing (NGS) Worksheets

Next Generation Sequencing worksheets, or NGS worksheets, focus on variant detection in the setting of inherited disease and provide a structured framework to guide the user through the entire life cycle of an NGS test. Each of the NGS worksheets contain background, instructions, and step-by-step guidance with examples for the different phases of NGS test development and implementation.
Access the worksheets