PRS-powered disease risk reporting

Predicting disease risk with PRS

The distribution of PRS in a population is normally distributed

We calculated Maria’s raw PRS for breast cancer and compared it to a reference distribution (left). To enable interpretation and to define quantiles of the PRS distribution, the PRS distribution is standardized to have a mean of 0 and standard deviation of 1 (right). From her standardized score, we can see that Maria’s PRS is 1.4 standard deviations away from the average score.
The reference population is divided into percentiles to identify where Maria’s PRS lands. (In this chart we show only where the deciles fall.) Her PRS, marked by the red line, is in the 91st percentile of the distribution.

Developing ancestry-specific reference populations

PRS percentile to relative and absolute risk

PRS distributions can be used to translate specific risk scores to risk. On the left the risk relative to the remainder of the population is shown for the tail of the distribution. On the right, Maria’s PRS percentile translates to an almost 23% absolute lifetime risk of Breast Cancer, based on a risk model from a reference population

Reporting risk

  • Is the report physician or patient-focused? This will affect the language and tone of any resulting communication and define the level of educational content that might be required.
  • Can absolute risk, incorporating clinical factors, PRS and potentially rare pathogenic variation, be communicated?
  • Are there clear risk thresholds from disease guidelines that can be used to align genomics-integrated predictions of risk with current standard of care?
  • Are there recommendations that can be applied to help the individual mitigate any extra risk?

A guidelines-first approach to defining risk thresholds

Maria’s PRS puts her above the guideline high risk threshold (20%).
An example of Allelica’s Breast Cancer risk report incorporating PRS, rare pathogenic mutations and family history of disease.

Conclusion

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Allelica is a Software Genomics Company developing algorithms and digital tools to accelerate the integration of Polygenic Risk Score in the clinical practice

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Allelica

Allelica

Allelica is a Software Genomics Company developing algorithms and digital tools to accelerate the integration of Polygenic Risk Score in the clinical practice

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