Recommendations for reporting results of diagnostic genomic testing

Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continued to evolve over the past decade, the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) published in 2014 have been reviewed and updated to provide the genomic community with guidance on reporting unambiguous results.

Automated summary

Clear and concise reporting of clinical genomic testing results is essential for understanding and interpretation. The ESHG has reviewed and updated their recommendations for reporting diagnostic genetic testing results to provide unambiguous guidance for the genomic community.