The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Erin Thorpe Venti will present findings from an observational, retrospective analysis of 1,004 underserved individuals from 8 countries with suspected rare genetic disease who received clinical genome sequencing (cGS) through the iHope program, a philanthropic testing access program. 

Overview of Presentation

• The diagnostic yield of cGS was 41.4% across the cohort. Individuals from sites in low- and middle-income countries (LMIC) had a higher diagnostic yield compared to those from sites in high-income countries (HIC).
• cGS impacted the clinician’s diagnostic evaluation (DE) for 76.9% of individuals, with a higher rate in LMIC sites (87.4%) compared to HIC sites (70.1%). Positive test results led to a substantial increase in DE (64.2 times more likely), showing the impact of accurate diagnoses on clinical practices.
• cGS resulted in a change of management (COM) for 41.1% of individuals, including new specialty referrals, imaging, therapeutic interventions, and palliative care. The COM increased to 69.2% when genetic counseling and avoidance of additional testing we also considered.
• Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation and change of management, suggesting that increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities.