Molecular Genetic Testing and the Future of Clinical Genomics

Nat Rev Genet. 2013 Jun;14(6):415-26. doi: 10.1038/nrg3493.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Evaluation Studies as Topic
  • Genetic Testing / economics
  • Genetic Testing / ethics
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / standards*
  • Genome-Wide Association Study
  • Genomics
  • Humans
  • Karyotyping
  • Molecular Diagnostic Techniques / economics
  • Molecular Diagnostic Techniques / ethics
  • Molecular Diagnostic Techniques / standards*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • United States