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KMID : 1100820210110010025
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Laboratory Medicine Online
2021 Volume.11 No. 1 p.25 ~ p.31
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Status of Next-Generation Sequencing-Based Genetic Diagnosis in Hematologic Malignancies in Korea (2017-2018)
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Kim Jin-Ju
Lee Ja-Young
Huh Jung-Won
Nam Myung-Hyun
Kim Myung-Shin
Cho Young-Uk
Kong Sun-Young
Lee Seung-Tae
Kim In-Suk
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Abstract
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Background: The aim of this study was to investigate the status of next generation sequencing (NGS)-based genetic diagnosis in hematologic malignancies in Korea in 2017 and 2018.
Methods: A structured questionnaire was provided to specialists in charge of the genetic testing of hematologic malignancies via e-mail. The questionnaire consisted of 37 questions reflecting the situation of the institutions for each year and were based on an assessment of the status of the hematologic malignancy NGS test (19 questions) and the institution’s opinion on the NGS test (18 questions).
Results: A total of 12 and 14 laboratories, in 2017 and 2018, respectively, replied to our survey and their answers were further analyzed. Most laboratories were performing NGS panel testing for acute leukemia and myeloid malignancies, and a small proportion of laboratories were testing NGS for lymphoid malignancies. The majority of participants agreed that NGS testing should be essential for the initial diagnostic workup.
Conclusions: Variation in NGS panel tests, including choice of gene and platform by different laboratories, were observed. Standardized panels and interpretation, centered around the Korean Society for Genetic Diagnostics, is needed to reduce inter-laboratory variation in NGS test results.
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KEYWORD
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Genetic testing, Questionnaires and surveys, Hematologic malignancies, Next generation sequencing (NGS)
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