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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Clinical Availability of Functional Assays: Ident ...
Clinical Availability of Functional Assays: Identifying Assays at Risk and Pathways to Ensure Appropriate Patient Care
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Pdf Summary
Tissue-based functional assays are becoming less common in clinical biochemical genetics laboratories, resulting in changes to test menus. The discontinuation of cholesterol esterification testing for Niemann-Pick C disease at the Mayo Clinic is an example of this trend. Several factors were considered in this decision, including the use of radioactivity in the assay, the departure of experienced technologists, decreasing volumes, and increasing indeterminate results. The use of plasma oxysterol analysis was determined to be a superior alternative that provided more conclusive diagnoses for patients.<br /><br />The introduction highlights the historical use of functional assays in biochemical genetics laboratories for diagnosing rare diseases. However, as technologies have evolved, the utilization of these assays has declined, leading to their removal from clinical laboratories in the United States. To ensure patient care is not compromised by the discontinuation of tests, the paper proposes a framework for identifying tests at risk and provides examples. Assays that serve multiple purposes, such as both diagnosis and therapeutic monitoring, are often easier to support and have faster turnaround times.<br /><br />The paper emphasizes the importance of prioritizing accurate and accessible pathways to diagnosis and treatment for patients. It suggests considering alternative pathways, such as molecular testing and alternative biomarkers, as well as ensuring the appropriate training, competency, reagent availability, and equipment reliability for performing tests. Highly complex, low-volume assays may be challenging to maintain in laboratories. Therefore, assays that can be used for both diagnosis and monitoring are advantageous for patients and providers, as they typically use more accessible specimen types, have faster turnaround times, and are easier to support in the laboratory.
Asset Subtitle
Presenting Author - Patricia L. Hall, PhD; Co-Author - Dawn S. Peck, CGC, LGC, MSGC; Co-Author - Gisele Pino, MSGC; Co-Author - April Studinski, MS; Co-Author - Amy White, MS CGC; Co-Author - Dimitar K. Gavrilov, MD, PhD; Co-Author - Dietrich Matern, MD, PhD, FACMG; Co-Author - Devin Oglesbee, PhD; Co-Author - Matthew Schultz, PhD; Co-Author - Silvia Tortorelli, MD,PhD;
Meta Tag
Biochemical genetics
Delineation of Diseases
Metabolic Disorder
Co-Author
Dawn S. Peck, CGC, LGC, MSGC
Co-Author
Gisele Pino, MSGC
Co-Author
April Studinski, MS
Co-Author
Amy White, MS CGC
Co-Author
Dimitar K. Gavrilov, MD, PhD
Co-Author
Dietrich Matern, MD, PhD, FACMG
Co-Author
Devin Oglesbee, PhD
Co-Author
Matthew Schultz, PhD
Co-Author
Silvia Tortorelli, MD,PhD
Presenting Author
Patricia L. Hall, PhD
Keywords
tissue-based functional assays
clinical biochemical genetics laboratories
cholesterol esterification testing
Niemann-Pick C disease
Mayo Clinic
plasma oxysterol analysis
conclusive diagnoses
patient care
alternative pathways
diagnosis and monitoring
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