Genomic Screening at a Single Health System.

Area of Science:

• Genomic Medicine
• Translational Genomics
• Population Health Genomics

Background:

• Genomic screening holds promise for transforming medicine by identifying actionable findings for disease prevention and management.
• Despite its potential, genomic screening is largely confined to research and not yet integrated into routine clinical care.

Purpose of the Study:

• To summarize 11 years of experience with genomic screening within a large health system.
• To explore the landscape of current genomic screening efforts and their outcomes.

Main Methods:

• A cohort study analyzed exome data from participants in Geisinger's MyCode Community Health Initiative.
• Genomic screen-positive rates were evaluated by condition type and US CDC Tier 1 designation.
• The proportion of participants unaware of their genomic results was assessed, and other large-scale genomic screening efforts were compiled.

Main Results:

• 3.4% of 175,500 participants with available exome sequencing had pathogenic variants in 81 disease-risk genes.
• Of 5119 disclosed results, 44.2% were for cardiovascular disease, 39.7% for cancer, and 16.0% for other conditions.
• Nearly 90% of participants were unaware of their genomic risk prior to disclosure; only 25% of surveyed biobanks returned actionable genomic results.

Conclusions:

• Genomic screening is effective in identifying potentially actionable genomic findings in a significant portion of the population.
• The majority of individuals identified with genetic risks were previously unaware, underscoring the value of proactive screening.
• Most large-scale biobanks are not returning actionable genomic results, representing a missed opportunity for improved health outcomes and research.