How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care

Linnea M. Baudhuin, Leslie J. Donato, Timothy S. Uphoff

Research output: Contribution to journalReview article

14 Scopus citations


Technological applications and novel biomarkers in the field of molecular diagnostics have never been evolving at a more rapid pace. These novel applications have the promise to change the face of clinical care as we move into the era of personalized medicine. While some of these technologies and biomarkers have been adopted by some clinical laboratories, most laboratories face a steep learning curve in bringing these dramatically new and different molecular diagnostic applications on board. Furthermore, interpreting the vast amounts and new types of data produced by these novel applications brings forth challenges for laboratorians and clinicians alike. In this article, we discuss how some of these emerging novel molecular diagnostic technologies and analytes, such as next-generation sequencing, chromosomal microarray, microRNAs and circulating fetal nucleic acids are revolutionizing patient care and personalized medicine.

Original languageEnglish (US)
Pages (from-to)25-37
Number of pages13
JournalExpert Review of Molecular Diagnostics
Issue number1
StatePublished - Jan 1 2012



  • array comparative genomic hybridization
  • cell-free nucleic acid
  • chromosomal microarray
  • circulating nucleic acid
  • companion diagnostics
  • fetal DNA
  • massively parallel sequencing
  • miRNA
  • microRNA
  • molecular diagnostics
  • next-generation sequencing
  • personalized medicine

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics

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