Molecular Genetic Testing and the Future of Clinical Genomics

S. H. Katsanis*, Elias Nicholas Katsanis

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationGenomic and Precision Medicine
Subtitle of host publicationFoundations, Translation, and Implementation: Third Edition
PublisherElsevier Inc
Number of pages20
ISBN (Print)9780128006818
StatePublished - Jan 1 2017


  • Clinical test
  • Genetic test
  • Genome sequencing
  • Molecular genetic test

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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