As with all genetic risk communication, provision of a polygenic risk score should be tailored to the individual patient and address existing perception of disease causality and actionability. It’s important to start with explaining the clinical utility of this sort of testing ahead of it being ordered - What is the patient’s perceived personal utility of the test? Once the patient has a strong foundational understanding of what the test is (and is not) looking for, it’s easier to later explain what the report means in the context of their personal health.
Communication of polygenic risk scores should always include risk contextualization, such as framing the individual’s level of risk in comparison to that of the general population, and the amount of overall liability to a condition that is explained by the test. To avoid patient anxiety, it is important to provide details about this sort of testing in the context of all risk factors, including monogenic risk, environmental risk, and personal health history - patients should ideally come away from the conversation understanding that genetic risk is only one component of their overall risk of developing disease. Polygenic risk score information can then be used as an opening to discussions about modifiable risk factors (e.g. social, lifestyle, and environmental determinants of health). Reports that identify those at increased risk can also be used to help guide conversations with patients that are screening averse but may benefit from earlier or more frequent screening for certain conditions that are high risk.
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- GenomicMD has developed educational handouts called Genomic Risk Guides with guidance from experts in genetics as well as individual medical specialties that are designed to help guide conversations between patients and providers about the conditions on our test and what increased risk means.
For more information about the clinical implementation of PRS, check out our Ask a GC blog posts here