Lab Med Online.  2018 Jul;8(3):107-113. 10.3343/lmo.2018.8.3.107.

Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

Affiliations
  • 1Common Cancer Branch Research Institute, National Cancer Center, Goyang, Korea.
  • 2Green Cross Genome, Yongin, Korea.
  • 3Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 4College of Veterinary Medicine, Konkuk University, Seoul, Korea.
  • 5National Cancer Center Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea. ksy@ncc.re.kr
  • 6Center for Breast Cancer, Hospital, National Cancer Center, Goyang, Korea.
  • 7Immunotherapeutics Branch, Research Institute, National Cancer Center, Goyang, Korea.
  • 8Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 9Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.

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.

Keyword

Genes; BRCA1; BRCA2; Questionnaires and Surveys; Genetic testing; Standardization
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