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July 24/31, 2013

Reporting Genomic Sequencing Results to Ordering CliniciansIncidental, but Not Exceptional

Author Affiliations
  • 1Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts
  • 2Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston
  • 3Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
JAMA. 2013;310(4):365-366. doi:10.1001/jama.2013.41703

Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)?—Yes.

The use of genomic sequencing in medicine is increasing substantially as this technology becomes less expensive and of demonstrated diagnostic utility.1,2 Potentially clinically relevant incidental findings from clinical exome or genome sequencing (hereafter referred to as genomic sequencing) will arise whenever an individual undergoes genomic sequencing. There is a great deal of controversy regarding how such findings should be addressed by clinical sequencing laboratories because many possible findings are of medical interest and processes for genomic testing and interpretation are not yet standardized. To date, the traditions of genetic testing and reporting have exceptionalized all genetic risk information as potentially dangerous to the well-being of patients. This tradition, in the era of genome sequencing, must be reconsidered.

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