Molecular Genetic Testing and the Future of Clinical Genomics

Book Section

© 2017 Elsevier Inc. All rights reserved. Central to the precision medicine trend is the ability to test for genomic variation in a given patient and use the variation to offer diagnoses and precision treatment. In most cases, tests for variation involve clinical molecular genetic tests. Genetic tests for germline variation include tests for macro-scale molecular changes, such as cytogenetic differences, and micro-scale variation of differences at the nucleotide level. The recent shift to genome sequence analysis brings with it challenges for interpreting genetic variation, particularly rare differences, that all humans carry.

Full Text

Duke Authors

Cited Authors

  • Katsanis, SH; Katsanis, N

Published Date

  • December 15, 2016

Book Title

  • Genomic and Precision Medicine: Foundations, Translation, and Implementation: Third Edition

Start / End Page

  • 263 - 282

International Standard Book Number 13 (ISBN-13)

  • 9780128006818

Digital Object Identifier (DOI)

  • 10.1016/B978-0-12-800681-8.00018-9

Citation Source

  • Scopus