Published online before print July 31, 2008

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Journal of Molecular Diagnostics 2008, Vol. 10, No. 5
Copyright © 2008 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2008.080050

Ordering Molecular Genetic Tests and Reporting Results

Practices in Laboratory and Clinical Settings

Ira M. Lubin^*, Michele Caggana, Carolyn Constantin^*, Susan J. Gross, Elaine Lyon, Roberta A. Pagon^¶, Tracy L. Trotter^||, Jean Amos Wilson^** and Margaret M. McGovern

From the Division of Laboratory Systems, * Centers for Disease Control and Prevention, Atlanta, Georgia; the Wadsworth Center, New York State Department of Health, Albany, New York; the Albert Einstein College of Medicine, New York, New York; ARUP Laboratories and the University of Utah, Salt Lake City, Utah; the Department of Pediatrics, ^¶ University of Washington School of Medicine, Seattle, Washington; San Ramon Valley Primary Care, ^|| San Ramon, California; the Genetic Services Laboratory, ** Sequenom Incorporated, San Diego, California; and the Department of Human Genetics, Mount Sinai School of Medicine, New York, New York

Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms. We found instances in which result reports for simulated diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis. Similarly, reports based on simulated scenarios for carrier testing were problematic when no mutations were identified, and the patient’s race/ethnicity and family history were not discussed in reference to residual risk of disease. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency. These findings are reviewed in light of what efforts should be taken to improve the quality of test-ordering and result-reporting practices.

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