혈액종양 분야의 차세대염기서열분석법 국내 실태 조사(2017-2018) = Status of Next-Generation Sequencing-Based Genetic Diagnosis in Hematologic Malignancies in Korea (2017-2018)

다국어 초록 (Multilingual Abstract)

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.

국문 초록 (Abstract)

배경: 본 연구는 혈액 종양의 진단에 있어 국내의 차세대염기서열분석(next generation sequencing, NGS) 기반 유전자 검사의 현황을 파악하기 위하여 2017년, 2018년 2개년간 진행하였다.
방법: 각 기관의 혈액 종양 관련 유전자 검사 담당 전문가에게 전 자 메일을 통한 설문을 시행하였다. 설문 항목은 각 해당 연도의 기관의 상황을 반영할 수 있도록 혈액종양 NGS 검사 현황(19 문 항)과 혈액종양 패널에 대한 기관의 의견(18 문항)에 대한 평가로 총 37 문항으로 구성되었다.
결과: 총 12개(2017년도) 및 14개(2018년도)의 기관이 설문 조사에 응답하였고 그 답변을 추가로 분석하였다. 답변에 응한 대부분의 기관에서 급성 백혈병과 골수성 혈액 종양에 대해 NGS 검사를 수 행하는 반면 림프종과 다발골수종의 혈액 종양에 대해 소수의 기 관에서 검사를 수행하였다. 다수의 기관은 NGS 검사가 혈액 종양 의 초기 진단에 필수 검사 혹은 추천 검사로 시행되어야 한다는 데 동의하였다.
결론: 응답한 기관마다 운용하는 NGS 패널의 구성과 플랫폼의 차 이가 있었다. 이에 NGS 유전자 검사의 검사실 간 차이를 줄이기 위 해 학회를 중심으로 한 표준화된 패널의 구성과 도출된 검사 결과 해석의 지침이 필요할 것이다.

참고문헌 (Reference)

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