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Principles of Genetic Counseling in the Era of Next-Generation Sequencing

Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with different functions and consequences for each. Accordingly, determining the s...

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Detalles Bibliográficos
Autores principales: Yang, Mina, Kim, Jong-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895857/
https://www.ncbi.nlm.nih.gov/pubmed/29611378
http://dx.doi.org/10.3343/alm.2018.38.4.291
Descripción
Sumario:Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with different functions and consequences for each. Accordingly, determining the status of the patient or consultant and interpreting sequencing results from many genes can largely increase the complexity of genetic counseling. Moreover, the current environment of big data that can be readily shared via the internet and a ubiquitous network provides many different avenues for which a consultant must handle the traditional principle of genetic counseling in different ways. Thus, further consideration and rethinking of genetic counseling principles are necessary in the era of NGS. In this review, we discuss several aspects of genetic counseling that one can encounter when faced with NGS data.