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.
Surveying current practices in genomic sequencing test interpretation and reporting processes
While the evidence supporting the diagnostic success of genome/exome sequencing expands, a growing number of clinical laboratories are adding this multifaceted test service to their offerings. Genome-scale sequencing is complex, however, and implementation has outpaced comprehensive guidance for both laboratorians and clinicians. Members of the CSER Return of Results working group surveyed 21 experienced laboratories to provide insight into current workflow and reporting practices. Results highlight which practices are becoming standard approaches, where divergence remains, and suggested areas for which development of best practice guidelines may be helpful.
Read more about this paper online at https://www.ncbi.nlm.nih.gov/pubmed/27811861.