Scaling Return Of Results
Population genomics initiatives are rapidly enrolling tens of thousands of participants, providing them with personalized risk assessments, and, in some cases, medical guidance. There are challenges to scaling such processes and a clear need to meet the education and support needs of patients through easy-to-understand clinical return of results. To address this, we employed a human-centered design approach to develop a highly scalable, intuitive digital return of results experience for genetic tests.
Helix Research
Related work
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
The above work is done as part of a larger effort to support large-scale genomic screening. Recently published work from the Helix team highlighted the importance of such screening, demonstrating the prevalence of pathogenic and likely pathogenic variants in the Healthy Nevada Project cohort—90% of whom did not qualify for genetic screening under current clinical guidelines. The team also analyzed what impact these variants may have on disease free survival among individuals who fall under current clinical guidelines (vs those who don't).
Article here >
