Bridging a Patient’s Mutational Data and Clinical Observations to Help Predict Progression

  • MPNRF | May 2, 2022
    PhD Stanford University

    With so much variability of symptoms and progression among MPN patients, individualized treatment plans are critical in the management of essential thrombocythemia, polycythemia vera, and myelofibrosis.

    Personalized medicine in MPNs requires that we first address the challenge of patient genetic heterogeneity, according to Anandi Krishnan, PhD, including across the clinical spectrum of these disorders.

    While current clinical DNA sequence and targeted panel data successfully identify novel genetic variants, the genetic data alone are insufficient markers of the MPN disease observations seen in the clinic.

    “There is an unmet need for clinically relevant signatures that bridge the knowledge gap between the patient mutational data and their evolving clinical phenotype (characteristics),” says Dr. Krishnan.

    “Well-characterized associations between MPN molecular signature and disease phenotype would benefit efforts toward early detection, novel therapies, and improved clinical interpretation of disease natural history,she explains. “They could serve as a proxy for severity, helping to predict the risk of progression and possibly disease-related complications in an individual MPN patient. 

    Her team’s current work in this area is funded by the MPN Research Foundation through an MPN 2021-2023 Challenge award.