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- 32 - ABSTRACT
-A survey on the utility of predictive genetic testing and genetic counseling in Korea
Yun Kyoung Jeong
Department of Medical Sciences The Graduate School, Ajou University
(Supervised by Emeritus Professor Hyon J. Kim and Professor Seon-Yeong Jeong)
Next-generation sequencing (NGS), also known as high-throughput sequencing, is a quick and affordable method of generating vast amounts of data.
This technology has become an essential tool in genetic and genomic analyses.
NGS has a large number of applications, thereby facilitating rapid technological advances across many fields of not only bioscience but also healthcare, including genetic testing and predictive genetic testing for susceptibility to diseases.
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The term “personalized medicine” specifically refers to genetics-based healthcare, and the era of personalized medicine is on the horizon. Predictive genetic testing analyzes multiple genetic variants for susceptibility to diseases in the future and provides a better understanding of the health needs of individuals based on their genetic constitution. In addition, it helps develop new treatments.
This study aimed to survey the status existing state of the predictive genetic testing service in Korea and evaluated the level of awareness regarding predictive genetic testing and genetic counseling and their necessity among professionals providing this service. In addition, this study also investigated their specific needs and opinions regarding the test via descriptive surveys.
The survey of the status of the predictive genetic testing service was conducted via literature reviews and by directly contacting the individuals in charge of companies providing the predictive genetic testing service. In total, 110 companies providing genetic testing services exist in Korea, but only three of them provide the predictive genetic testing service.
The survey of the awareness regarding this service and its necessity was conducted from March to June 2016 by contacting the participants either directly or over e-mail. The participants were experts involved in the predictive genetic testing service. In total, 145 individuals participated in this survey.
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The survey revealed that awareness regarding the predictive genetic testing service was very high (79%) and that most participants were well aware of the importance of genetic counseling for this service (90%). The survey participants also preferred that genetic counselors, rather than geneticists or physicians, conduct the first session of counseling, as genetic counselors possess specific knowledge of genetics and genomics and are able to offer comprehensive information to customers with sufficient counseling time.
Collectively, the survey results indicate that predictive genetic testing service is a preventative personalized healthcare service. However, it may take longer for this service to be widely used in Korea because it has many limitations. This study provides important insights into the status of the predictive genetic testing service and the necessity of specialized genetic counseling for this service in Korea.
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Key words: next generation sequencing (NGS), personalized medicine, predictive genetic test, genetic counseling, survey
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