Molecular genetic testing and the future of clinical genomics

Sara Huston Katsanis, Elias Nicholas Katsanis

Research output: Contribution to journalReview articlepeer-review

209 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)415-426
Number of pages12
JournalNature Reviews Genetics
Volume14
Issue number6
DOIs
StatePublished - Jun 1 2013

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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