|
KMID : 1100820180080030107
|
|
Laboratory Medicine Online
2018 Volume.8 No. 3 p.107 ~ p.113
|
|
|
Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
|
|
Lee Kyung-Ju
Jang Ja-Hyun
Lee Seung-Tae
Yoon Kyong-Ah
Lee Eun-Sook
Kim Jong-Won
Kong Sun-Young
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|