Available on the American Society of Human Genetics' education resources is a CSER-developed Guide to Interpreting Genomic Reports, a just-in-time resource for non-geneticist physicians when receiving a genomic test report. This Toolkit's work was led by Sharon Plon from Baylor and Kelly East from HudsonAlpha, with support from the CSER Practitioner Education working group.
Is "incidental finding" the best term?
Is there specific language we should use to talk to patients about their options for genomic sequencing? The words we use to describe the possible results could impact understanding and choice. CSER investigators at the University of Washington and the University of North Carolina recently published a paper (https://www.ncbi.nlm.nih.gov/pubmed/27490114) where they surveyed and held focus groups with patients to explore what they think the best term is to describe genetic variants unrelated to the reason a genomic test was ordered, but that are potentially important for health. Both participant groups preferred the more neutral and accessible term ‘additional’ findings above others including ‘incidental’ and ‘secondary’. This work highlights the importance of considering patient opinions and preferences when we discuss the nuances of genomic sequencing technology.