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PHAR Conducts Expert Panel to Update Clinical Recommendations in Diagnosis and Management of Rare Genetic Disorders

PHAR, in collaboration with Novartis, just published findings from a modified Delphi panel summarizing expert clinical consensus on the medical management of a group of rare genetic disorders. PIK3CA-related spectrum disorders (PROS) are defined by somatic variants in the PIK3CA gene and have diverse clinical manifestations. PHAR used the modified Delphi panel method, a formal, structured, and validated panel process designed to develop expert clinical consensus, to update clinical recommendations on the severity classification, testing, and medical management of patients with PROS. The full manuscript detailing their methods and findings are published in the June 2023 issue of Journal of Vascular Anomalies, or can be found on the PHAR publications page.

June 1, 2023 | Publications

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