Abstract
Most individuals who undergo genomic screening will receive negative results or results not sufficient to warrant a clinical response. Even though a majority of individuals receive negative results, little is known about how negative results may impact individuals’ perception of disease risk. Changes in risk perception (specifically reductions in perceived risk) may affect both probands and their family members if inaccurate information is communicated to family members. We surveyed patients who received negative results as part of their participation in a genomic screening study and assessed their perceptions of disease risk following receipt of results. Participants had either hyperlipidemia or colon polyps (or both) and received their negative genomic screening results by mail. Of 1712 total individuals recruited, 1442 completed the survey (84.2% completion rate). Approximately one quarter of individuals believed their risk for heart disease to be lower and approximately one third of individuals believed their risk for colon cancer to be lower after receiving and evaluating their negative genomic screening result. 78% of those who believed their risk for one or both diseases had declined had already shared or intended to share their result with family members. Our study suggests patients may interpret a negative genomic screening result as implying a reduction in their overall disease risk.
Highlights
As genomic screening is increasingly incorporated into both clinical and research settings [1], it is critical we understand how genomic screening results are interpreted by and affect individuals
While a negative result may indicate a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or is not at increased risk of developing a certain disease, it is possible that the test missed a disease-causing genetic alteration
The primary outcomes of interest for the analysis reported here are: (1) demographic characteristics in participants with at-risk phenotypes associated with adjusting risk downwards (2) changes in perceptions about disease risk after receiving negative genomic screening results, (3) perceived primary cause of hypothetical future disease after receiving negative results, and (4) odds of sharing results with family members
Summary
As genomic screening is increasingly incorporated into both clinical and research settings [1], it is critical we understand how genomic screening results are interpreted by and affect individuals. In the context of a genomic screening test, such a result might be considered “neutral” with respect to the information it provides for risk characterization. While a negative result may indicate a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or is not at increased risk of developing a certain disease, it is possible that the test missed a disease-causing genetic alteration. A negative result can provide clinical insights for individuals who are being evaluated for a pathogenic variant that is known to run in that patient’s family. These subtleties add to the interpretive and communication challenges associated with reporting negative genomic test results
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