Molecular genetic testing and the future of clinical genomics.
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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.
Oligonucleotide Array Sequence Analysis
Molecular Diagnostic Techniques
Sequence Analysis, DNA
Polymorphism, Single Nucleotide
Evaluation Studies as Topic
Genome-Wide Association Study
Published Version (Please cite this version)10.1038/nrg3493
Publication InfoKatsanis, Nicholas; & Katsanis, Sara (2013). Molecular genetic testing and the future of clinical genomics. Nature reviews. Genetics, 14(6). pp. 415-426. 10.1038/nrg3493. Retrieved from https://hdl.handle.net/10161/17569.
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Jean and George W. Brumley, Jr., M.D. Professor of Developmental Biology
Instructor in the Duke Initiative for Science & Society
Sara Huston Katsanis is faculty instructor in the Initiative for Science & Society at Duke University. Her policy research focuses on genetic testing applications in humanitarian efforts, medicine and law enforcement. She researches ethical and policy challenges in the applications of genomics to human identification in contexts, such as human trafficking, migration, and adoption fraud. Past research explored direct-­to-­consumer genetic testing, pharmacogeneti
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