Effective and accurate communication among health care providers, laboratory professionals and the public is essential for genetic testing to achieve its potential for improving health. Genetic tests must be used appropriately for a given situation to realize measurable health benefits. Over 1000 genetic tests are now available, with several reaching prominent clinical and public health significance. As this trend continues, concerns are raised about how genetic tests are ordered and results reported.
A project was launched to systematically evaluate practices associated with genetic test ordering and result reporting within the health care community.
We chose to look at DNA-based testing for cystic fibrosis (CF) as the model to assess laboratory practices associated with ordering of tests and reporting of results. Twenty six laboratories representing diverse geographic and practice settings were presented mock clinical scenarios by way of their native requisition form together with a genotypic result and asked to provide a test result report. Additional practice data not apparent from analysis of requisitions and reports were collected by way of a separate survey. Input from the laboratory and clinical provider communities was critical in developing an approach to analyzing the data collected.
Several elements of variability were identified with the greatest being inconsistencies in how genotypic test results were reported, limitations of the test described, and collection/use of information provided on the requisition form. Items likely pertinent to compromising an accurate and comprehensible interpretation were identified.
These results support the need for consensus development in the areas of terminology and communication practices to assure appropriate ordering of tests and understanding of results.
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