Genomic testing can generate many different types of results that can be difficult to fully comprehend. Beyond understanding the results themselves, identifying next steps can be a challenge for families as well. We have heard a general sentiment among families that current practices for returning genomic results can leave them feeling “lost and abandoned.” In response to this, we collaborated with parent advisors to create a customizable, comprehensive Genomic Results e-booklet to help families understand their genomic results, their implications, and to consider their next steps. There are two versions of the booklet: one for genome sequencing results that do lead to a diagnosis (positive results), and one for results that do not lead to a diagnosis (negative results).
A pilot study to gather families’ opinions of the Genomic Results e-booklet has been completed. The participants in this study held overwhelmingly positive views of the Genomic Results e-booklet, feeling that it helped them remember results information, share their results with others, and think about next steps.
The Genomic Results Booklet was created by Julia Handra, Isabel Jordan, Brenda Lenahan, Kelsey Ohs, Colleen Guimond, Patricia Birch, and the Friedman Lab, with the support of the CHILD-BRIGHT Network.