TY - JOUR
T1 - Molecular genetic testing and the future of clinical genomics
AU - Katsanis, Sara Huston
AU - Katsanis, Elias Nicholas
PY - 2013/6
Y1 - 2013/6
N2 - Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.
AB - Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.
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U2 - 10.1038/nrg3493
DO - 10.1038/nrg3493
M3 - Review article
C2 - 23681062
AN - SCOPUS:84877999280
SN - 1471-0056
VL - 14
SP - 415
EP - 426
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 6
ER -