Secondary findings: How did we get here, and where are we going?

J Genet Couns. 2019 Apr;28(2):326-333. doi: 10.1002/jgc4.1098. Epub 2019 Mar 1.


The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.

Keywords: autonomy; children; ethics; genetic counseling; guidelines; incidental findings; secondary findings.

MeSH terms

  • Genetic Testing / standards*
  • Genome, Human*
  • Humans
  • Incidental Findings*