Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing

J Mol Diagn. 2019 Jan;21(1):3-12. doi: 10.1016/j.jmoldx.2018.09.006. Epub 2018 Nov 17.


The increasing quality and diminishing cost of next-generation sequencing has transformed our ability to interrogate large quantities of genetic information. This has led to a dramatic increase in the number of elective genomic tests performed. In this article, elective test denotes a test that a patient chooses to undertake without a clinical indication. The variety of elective genomic testing options is considerable. Because these offerings provide differing levels of sensitivity and specificity, it can be difficult to choose among them. A simple rubric to compare offerings is not readily available. We propose a framework designated completeness that evaluates both analytical and interpretative components of genomic tests. We then illustrate how this framework can be used to evaluate the expanding landscape of elective genomic testing.

Publication types

  • Review

MeSH terms

  • Animals
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing* / methods
  • Genetic Variation
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Patient Participation
  • Whole Exome Sequencing / methods