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A Genetic Counselor's Guide to Using Next‐Generation Sequencing in Clinical Practice
Author(s) -
Facio Flavia M.,
Lee Kristy,
O'Daniel Julianne M.
Publication year - 2014
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-013-9662-7
Subject(s) - genetic counseling , clinical practice , medicine , genetic testing , dna sequencing , public health , medical physics , medical education , data science , family medicine , computer science , pathology , genetics , biology , dna
Advances in next‐generation sequencing (NGS) and rapid reductions in cost have increased the use of such technologies in research and clinical practice. However, many barriers exist to translating NGS for routine clinical use, including issues related to the interpretation of results, and the potential to find results that are secondary or incidental to the specific application of NGS. Nonetheless, NGS has become sufficiently affordable to be offered by several clinical laboratories, and increasingly it is becoming an attractive and viable option for clinicians and patients. This article reviews current NGS technologies, highlighting the information genetic counselors need to know to make informed‐decisions about utilizing NGS in the clinic, and underscoring the impact of this new testing modality on the practice of genetic counseling.