Michael Dorschner is Research Assistant Professor of Psychiatry & Behavioral Sciences and Pathology at the University of Washington. He is a clinical molecular geneticist with interests in the application of genomics to molecular diagnosis and the genetic basis of neurodegenerative disorders.
Refining the structure and content of clinical genomic reports
Article first published online: 10 MAR 2014
© 2014 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Implementation of Genomic Medicine
Volume 166, Issue 1, pages 85–92, March 2014
How to Cite
2014. Refining the structure and content of clinical genomic reports. Am J Med Genet Part C Semin Med Genet 166C:85–92., , , , , , , , , .
Conflict of interest: none.
* Correspondence to: Michael O. Dorschner, 1959 NE Pacific Street Box 356560 Seattle, WA 98195-6560. E-mail: firstname.lastname@example.org
- Issue published online: 18 MAR 2014
- Article first published online: 10 MAR 2014
- National Institutes of Health
- National Human Genome Research Institute and National Cancer Institute. Grant Numbers: U01HG006507, U01HG006375, U01HG007307
- National Institute of Translational Health Sciences. Grant Number: UL1TR000423
- exome sequencing;
- Clinical Laboratory Improvement Amendments (CLIA);
- College of American Pathologists (CAP);
- incidental findings;
- laboratory report
To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. To communicate results of a randomized control trial aimed at the evaluation of exome sequencing for clinical medicine, we developed a structured narrative report. With feedback from genetics and non-genetics professionals, we developed separate indication-specific and incidental findings reports. Standard test report elements were supplemented with research study-specific language, which highlighted the limitations of exome sequencing and provided detailed, structured results, and interpretations. The report format we developed to communicate research results can easily be transformed for clinical use by removal of research-specific statements and disclaimers. The development of clinical reports for exome sequencing has shown that accurate and open communication between the clinician and laboratory is ideally an ongoing process to address the increasing complexity of molecular genetic testing. © 2014 Wiley Periodicals, Inc.