WP06 Building Clinical utility

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  • Map clinical utility evidences and chart measures of evaluation
  • Set up a network and reference centers to aid identification of cancers during pregnancy using noninvasive prenatal testing (NIPT)
  • Identify monogenic and polygenic genetic alterations in pediatric leukemia patients and their family members to better understand the cause of paediatric leukemia
  • Improve familial cancer risk prediction in the population by evaluating the impact of incorporation of PRS in the current standardized risk stratification.

Clinical utility typically refers to the usefulness or utility of a finding, practice, or technology for clinical or medical objectives. WP6 will provide a map of clinical utility evidences for cancer, as well as evaluation metrics. To illustrate the clinical utility of Public Health Genomics (PHG), we will pilot and assess clinical value for three use cases: cancers in pregnancy, paediatric leukemia, and cancer risk stratification.

Each case addresses a patient population with a distinct unmet need.

There will be a formulation and implementation of guidelines for the clinical management of cancer patients who are pregnant.

Concerning pediatric malignancies, discovering monogenic and polygenetic changes in pediatric leukemia patients and their families is a priority in order to have a better knowledge of the underlying cause.

To improve familial cancer risk prediction in the population, cancer risk stratification will initially be applied to breast and ovarian cancers.