Preemptive sequencing in the genomic medicine era

Charu Kaiwar, Tammy M. McAllister, Konstantinos N. Lazaridis, Eric W. Klee

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Introduction: As genomic medicine finds its way into clinical practice, preemptive sequencing is being applied in various aspects of health care. In this review we take stock of the implications of this preemptive collection of information and how the current health care system is evolving to accommodate the privilege of this vast, permanent and deeply private knowledge about our individual selves. Areas covered: In this review we have explored the current standing of preemptive sequencing in regards to return of results for the ACMG 59, pharmacogenomics, prenatal screening, and direct to consumer genetic testing. We attempt to point to the advancements in academics and bioinformatics that it has triggered as well as highlight the various questions that have emerged as a result. Expert commentary: In the first two decades since the genome was sequenced, we have realized that our current health care system needs to go a long way until we can truly leverage our ability to read our genomes to personalize our medical needs. High throughput genomic sequencing is a first step toward more proactive or preemptive practice rather than the thus far reactive practice of medicine.

Original languageEnglish (US)
Pages (from-to)91-98
Number of pages8
JournalExpert Review of Precision Medicine and Drug Development
Issue number2
StatePublished - 2017


  • ACMG 59
  • Direct-to-consumer testing
  • Pharmacogenomics
  • Preemptive sequencing
  • Prenatal screening

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmacology
  • Drug Discovery


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