Preparing for the Data Deluge: Mitigating the Informatics Challenges of Expanded RBC Genotyping Data

Saturday, October 19, 2024

8:15 AM - 9:15 AM

Location: 362

CE: 0 CME (AMA Physician Credit) / 1 CE (Non-Physician Credit)

Speaker(s)

John Spinosa, MD, PhD

Chief Medical Advisor
Lantana Consulting Group
San Diego, California, United States

Disclosure(s): Agilent Technologies: Stock Shareholder (self-managed) (Ongoing); Aqtual: Full-time/Part-time Employee or Owner (Ongoing); Clearnote Health: Full-time/Part-time Employee or Owner (Ongoing); Lantana Group: Consultant/Advisory Board (Ongoing); Luventix: Full-time/Part-time Employee or Owner (Ongoing), Stock Shareholder (self-managed) (Ongoing)

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Program Chair(s)

Ross Fasano, MD

Associate Professor of Pathology and Pediatric Hematology/Oncology
Emory University, Georgia, United States

Disclosure(s): No financial relationships to disclose

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Speaker(s)

Marianne Yee, MD, MSCR (she/her/hers)

Associate Professor of Pediatrics, Hematology
Emory University and Children's Healthcare of Atlanta
Atlanta, Georgia, United States

Disclosure(s): No financial relationships to disclose

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Disclosure(s):

John C. Spinosa, MD, PhD: Agilent Technologies: Stock Shareholder (self-managed) (Ongoing); Aqtual: Full-time/Part-time Employee or Owner (Ongoing); Clearnote Health: Full-time/Part-time Employee or Owner (Ongoing); Lantana Group: Consultant/Advisory Board (Ongoing); Luventix: Full-time/Part-time Employee or Owner (Ongoing), Stock Shareholder (self-managed) (Ongoing)

Ross Fasano, MD: No financial relationships to disclose

Marianne E.M Yee, MD, MSCR: No financial relationships to disclose

Session Desription: Advances in molecular techniques for Red Blood Cell (RBC) genotyping and phenotyping are improving blood transfusion compatibility significantly for Sickle Cell Disease (SCD) patients and others requiring chronic transfusions. This marks a major milestone in transfusion medicine, offering improved patient-donor matching and better outcomes, while it introduces informatics challenges in using patient genotyping information for donor unit selection from inventory. Expanded RBC phenotyping data—which covers over 1,500 genomic features across more than 40 blood group systems—requires sophisticated data management in Electronic Health Records (EHRs), Blood Bank Laboratory Information Systems (BBLIS), and Blood Establishment Computer Systems (BECS). The current systems used by both hospital blood banks and donor centers do not support this level of substantive interoperability. Improving the informatics surrounding expanded phenotyping and genotyping can amplify the benefits of these molecular approaches and drive increased usage. This presentation will use case studies of SCD patients to highlight the benefits of expanded phenotypes in identifying donor units and expose informatics challenges in integrating and sharing this data. It will outline practical solutions for immediate use and future improvements, with an emphasis on standardized vocabulary, shared semantics, interoperability, and the application of machine learning/artificial intelligence for enhanced donor-patient matching. Collaborative innovation in informatics and standardized practices will establish the foundation for the full potential of molecular genotyping. This talk will guide transfusion medicine professionals in navigating these complexities and ensuring that technological progress in genotyping translates into clinical benefits for patients.

Learning Objectives:

Evaluate the benefits of using genotyping information to better select RBC donor units in select patient populations.
Assess the informatics differences in how the EHR, BBLIS, and BECS may represent genotyping information, and how these differences impair interoperability of genotyping information between health systems and blood supplier.
Utilize case studies to understand the impact of matching donors for SCD patients.
Propose practical solutions for overcoming informatics obstacles in supporting genotyping information, focusing on short term incorporation of genotyping information into your BBLIS, and longer term supporting developing interoperability standards.
Evaluate innovative approaches to improve the utilization of molecular genotyping in RBC transfusions.