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.

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