Outcomes Toolkit for Genomic Screening
Funding Information
- Robert H. Ebert Career Development Award
Leadership
Year
2023

Project Summary
Genomic screening, where patients’ genetic information is examined while patients are healthy to identify health risks and personalize disease prevention, is increasingly being integrated into all aspects of medicine. Studies to evaluate the benefits, harms and costs of genomic screening are challenged, however, by a lack of standardization in methods for outcomes assessment. The goal of this project address is to address these methodological challenges by developing an Outcomes Toolkit for Genomic Screening, a database of tools and strategies to guide the unbiased evaluation of genomic screening.
Aims
Specific aims of this project are:
- Develop a framework for evaluating the impact of disclosing common genetic information about monogenic, pharmacogenomic, and polygenic risk information to unselected populations
- Develop an Outcomes Toolkit for Genomic Sequencing for use in outcomes research
- Apply the Outcomes Toolkit to data from a randomized trial of genome screening to generate preliminary evidence for future studies