TY - JOUR
T1 - Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy
AU - Hagemann, Ian S.
AU - Cottrell, Catherine E.
AU - Lockwood, Christina M.
PY - 2013/12/1
Y1 - 2013/12/1
N2 - In cancer medicine, next generation sequencing (NGS) has emerged as a practical method to generate patient- and tumor-specific genetic data for optimal selection of targeted therapies. Targeted sequencing allows clinical testing to focus on cancer-related genes, thus maximizing the test's sensitivity and specificity for actionable variants. In this review, we summarize the current regulatory environment surrounding clinical NGS, including regulations and professional opinions established by the College of American Pathologists, the Centers for Disease Control and Prevention, the Clinical Laboratory Improvement Amendments, the Clinical and Laboratory Standards Institute, the Association for Molecular Pathology, the New York State Department of Health, and the American College of Medical Genetics. We outline practical considerations for the design of targeted NGS assays, with an emphasis on capture-based methods. Finally, we discuss components of the validation process for clinical NGS assays as well as challenges that still remain for clinical NGS.
AB - In cancer medicine, next generation sequencing (NGS) has emerged as a practical method to generate patient- and tumor-specific genetic data for optimal selection of targeted therapies. Targeted sequencing allows clinical testing to focus on cancer-related genes, thus maximizing the test's sensitivity and specificity for actionable variants. In this review, we summarize the current regulatory environment surrounding clinical NGS, including regulations and professional opinions established by the College of American Pathologists, the Centers for Disease Control and Prevention, the Clinical Laboratory Improvement Amendments, the Clinical and Laboratory Standards Institute, the Association for Molecular Pathology, the New York State Department of Health, and the American College of Medical Genetics. We outline practical considerations for the design of targeted NGS assays, with an emphasis on capture-based methods. Finally, we discuss components of the validation process for clinical NGS assays as well as challenges that still remain for clinical NGS.
KW - Laboratory standards
KW - Massively parallel sequencing
KW - Regulatory compliance
KW - Validation studies
UR - http://www.scopus.com/inward/record.url?scp=84893840535&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2013.11.003
DO - 10.1016/j.cancergen.2013.11.003
M3 - Review article
C2 - 24388712
AN - SCOPUS:84893840535
VL - 206
SP - 420
EP - 431
JO - Cancer Genetics
JF - Cancer Genetics
SN - 2210-7762
IS - 12
ER -