Recommendations for reporting results of diagnostic genomic testing.
Zandra C DeansJoo Wook AhnIsabel M CarreiraElisabeth M C DequekerMick HendersonLuca LovrecicKatrin ÕunapMelody TabinerRebecca TreacyChristi J van AsperenPublished in: European journal of human genetics : EJHG (2022)
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.