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Development of a Clinical Polygenic Risk Score Assay Described

Physician- and patient-oriented informational materials developed to support decision-making about polygenic risk scores

FRIDAY, April 22, 2022 (HealthDay News) — A clinical polygenic risk score (PRS) assay and reporting workflow can be developed for use in patient care, according to a study published online April 18 in Nature Medicine.

Limin Hao, from Mass General Brigham Personalized Medicine in Cambridge, and colleagues obtained data from 36,423 Mass General Brigham Biobank participants to replicate the performance of PRS for six target diseases, using published PRS thresholds for high risk corresponding to disease odds ratios >2. Based on these data, a clinical genotype array-based assay for six published PRS was developed for the ongoing Veterans Affairs Genomic Medicine at Veterans Affairs (GenoVA) Study. Using the prospective PRS pipeline, samples from the first 227 participants of the GenoVA Study were analyzed. In addition to the PRS laboratory report, physician- and patient-oriented informational materials were developed to support decision-making about PRS results.

High performance and robustness of the pipeline for use as a clinical assay for individual patients was confirmed. The researchers found that the frequency of PRS corresponding to a published odds ratio >2 varied from 5.7 to 15.3 percent for colorectal cancer and prostate cancer, respectively, among the 227 enrollees.

“Data from increasingly larger and more diverse populations, coupled with computational advances, are propelling PRS into consideration for clinical implementation,” the authors write. “We have shown that laboratory assay development and PRS reporting to patients and physicians are feasible (but nontrivial) next phases in PRS implementation.”

Several authors disclosed financial ties to the biopharmaceutical and technology industries.

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