Status of BRCA1/2 Genetic Testing Practices in Korea (2014).
- Author:
Kyungju LEE
1
;
Ja Hyun JANG
;
Seung Tae LEE
;
Kyong Ah YOON
;
Eun Sook LEE
;
Jong Won KIM
;
Sun Young KONG
Author Information
- Publication Type:Original Article
- Keywords: Genes; BRCA1; BRCA2; Questionnaires and Surveys; Genetic testing; Standardization
- MeSH: Academies and Institutes; Electronic Mail; Genetic Testing*; Korea*; Methods; Multiplex Polymerase Chain Reaction; Specialization; Surveys and Questionnaires
- From:Laboratory Medicine Online 2018;8(3):107-113
- CountryRepublic of Korea
- Language:Korean
- 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.
