BRCA1/2 유전자 검사의 국내 시행 현황(2014)
Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
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배경: 2014년 국내에서 시행했던 BRACA1/2 유전자 검사의 현황을 파악하기 위해서 진행하였다. 방법: 각 기관의 유전자 검사 담당 전문가에게 2015년 7월 28일부터 8월 10일까지 전자메일을 통해 온라인 설문조사를 시행하여, 15개의 기관 중 답변을 한 11개의 기관의 답변을 분석하였다. 결과: 2014년도에 시행된 BRACA1/2 유전자 검사건수는 11개 기관 전체 평균 192건으로, 6개의 기관은 100건 미만, 5개의 기관은 100건 이상이었다. 유전자 검사를 위해 가장 많이 사용하는 방법은 Sanger sequencing으로 전체 기관에서 사용하고 있었고, 2개의 기관에서 Multiplex Ligation-dependent Probe Ampli cation (MLPA)을 함께 사용하고 있었다. 유전자 검사 결과 분석 시 사용하는 소프트웨어는 Sequencher (81.81%), Seqscape (27.27%), Codoncode Aligner (9.09%) 순이었고 각 기관마다 유전자 검사 해석 시 따르고 있는 가이드라인이 달랐다. 결론: 2014년도에 BRACA1/2 유전자 검사를 시행한 11개 기관만을 관찰하였지만, 본 연구로 국내의 표준화된 가이드라인이 필요함을 보여주었다.
Abstract
Background: The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014. Methods: A structured questionnaire was provided to the specialist in charge of BRCA1/2 genetic testing via e-mail between 28 July and 10 August 2015. A total of 11 genetic testing professionals from 14 organizations responded to the survey that asked about the status of BRCA1/2 genetic testing in the year 2014. Results: The average number of BRCA1/2 genetic tests executed was 192; 6 organizations had executed less than 100 tests, and 5 organizations had conducted more than 100 tests. The primary testing method used was Sanger sequencing (100%), and 2 institutes performed multiplex ligation-dependent probe amplification (MLPA). The analysis software differed across the various organizations, with Sequencher (81.81%), Seqscape (27.27%), and Codoncode Aligner (9.09%) reported as utilized. We found that the guidelines for the interpretation of the genetic tests were different at each institution. Conclusions: Although this study only examined the status of the 2014 BRCA1/2 genetic testing practices of 11 institutions, it illustrates the necessity for standardized genetic testing or interpretation guidelines in Korea.
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