Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
Laboratory Medicine Online
;
: 107-113, 2018.
Article
in Korean
| WPRIM
| ID: wpr-715909
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Specialization
/
Genetic Testing
/
Surveys and Questionnaires
/
Electronic Mail
/
Academies and Institutes
/
Multiplex Polymerase Chain Reaction
/
Korea
/
Methods
Type of study:
Practice guideline
/
Qualitative research
Country/Region as subject:
Asia
Language:
Korean
Journal:
Laboratory Medicine Online
Year:
2018
Type:
Article
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