speakers:
(1) Dr. Mathew Estey is a Clinical Chemist and the Clinical Biochemistry Medical Lead at Alberta Precision Labs North Hub Lab in Edmonton, Alberta, where he has worked since 2013. During this time, he has developed a keen interest in hemoglobinopathies, markers of glycemic control, alpha-1 antitrypsin deficiency, and laboratory utilization. Dr. Estey is a Clinical Professor in the Department of Laboratory Medicine and Pathology at the University of Alberta and also teaches hemoglobinopathies to residents/fellows at the University of Calgary and the University of Toronto. In 2023, he received the Outstanding Contribution Award from the Alberta Society of Clinical Chemists, in recognition of significant contributions to the practice of Clinical Chemistry in Alberta through research, leadership and education.
(2) Ruben Y. Luo, PhD, DABCC is an Assistant Professor of Pathology at Stanford University and an Associate Director of Clinical Chemistry Laboratory at Stanford Health Care. He received PhD in chemistry from Stanford University, worked in the clinical diagnostic industry for several years, and then completed clinical chemistry fellowship at the University of California San Francisco. Dr. Luo is dedicated to innovations in translational laboratory medicine. His research focuses on (1) discovering the clinical diagnostic value of molecular characteristics of protein biomarkers, and (2) developing high-resolution mass spectrometry and label-free optical sensing technologies for accurate measurement of biomarkers. He stays as an active participant and conference speaker in major academic organizations, including the Association for Diagnostics and Laboratory Medicine (ADLM; formerly AACC), the Mass Spectrometry & Advances in Clinical Lab (MSACL), the American Society for Mass Spectrometry (ASMS), and the American Chemical Society (ACS). His work has been recognized with prestigious academic awards such as the 2025 MSACL Michael S. Bereman Award for Clinical Science Innovation, the 2022 AACC George Grannis Award for Excellence in Research and Scientific Publication, and the 2020 American Society for Clinical Pathology (ASCP) “40 Under Forty” Honoree.
overview:
(1) This lecture will describe Alberta Precision Labs’ provincial testing program for hemoglobinopathies, which was implemented in 2023. This program is a collaborative endeavor between Clinical Biochemistry, Hematopathology and Genetics & Genomics that encompasses both initial screening and confirmatory testing. Data-driven recommendations for optimizing confirmatory testing criteria will be discussed.
(2) This lecture will introduce the novel top-down high-resolution mass spectrometry methodology and describe an assay for hemoglobin variant identification based on the methodology. The assay provides high specificity and relatively low cost to pinpoint the exact hemoglobin variants in clinical cases.
learning objectives:
(1) At the conclusion of this session, participants will be able to:
-Identify the various types of mutations that can occur within the globin genes
-Describe the key laboratory components of a hemoglobinopathy investigation(2) At the conclusion of this session, participants will be able to:
-Understand high-resolution mass spectrometry and its use in clinical diagnostics
-Be aware of the current challenges in hemoglobin variant identification that may be resolved by high-resolution mass spectrometry.