An initial pilot with 50 participants developed a workflow to decrease the turnaround time for whole genome sequencing from 4 to 6 weeks to 3 days. Through this work, it was also discovered that 20% of patients had one or more actionable genetic findings, including Mendelian disease variants (SNPs and Indels), repeat expansions, and chromosomal structural variations implicated in the clinical phenotype of pilot participants. The One Brave Idea team developed a new software application to engage patients and their families directly in data collection with the ability to return directly to the Electronic Medical Record recommendations for additional data, shared decision-making, and new treatments. This new platform is being developed so that it can be licensed to companies to enable the democratization of genetic testing and genetic insights. Importantly, these same approaches can be used to implement any other new technology.
The One Brave Idea team has studied and measured the impact of 35 cellular stressors introduced in the lab on whole blood samples and have already demonstrated perturbations provide more information than passive readouts of cellular counts, with the initial model outperforming ACSVD (Atherosclerotic Cardiovascular Disease Risk Calculator) and a whole genome polygenic risk score in measuring risk. Whole blood perturbation responses have been related to clinical data and several perturbations that are robustly associated with specific subsets of conditions such as type 2 diabetes, obesity, heart failure, and chronic kidney disease have been identified. Additionally, novel genetic variants for these subsets have been identified enabling the mechanisms to be explored and new therapies to be developed. This has led to the development of significant new intellectual property.
Intentionally planned to begin after the Driving Genomics and Phenotype Stack research was well underway, the trajectory project has identified and is recruiting family members based on characteristics of disease (those who are presymptomatic, high-risk, or already affected with coronary heart disease) within a school environment. Family-based interventions present a much-needed opportunity to gain a deeper understanding into the connection of individual’s well-being with genetic and environmental factors. Initial pilots have shown success designing studies that are virtual in nature, from consent and registration to conducting virtual information sessions and classes.