GAINSeq: expanding access to diagnostic genetic testing for undiagnosed patients from underserved populations

About the Program

Category: Health (Best in Category)

Year: 2023

Patients from underserved populations affected by rare diseases typically undergo long harrowing diagnostic odysseys associated with prolonged journeys to reach a genetic diagnosis due to delays in access to testing. We implemented GAINSeq (Genetics Access Improvement with Nextgeneration Sequencing) as an initial approach to improve access to genetics diagnostics. We partnered with a laboratory that provided accessible cost-effective testing for families. Coupled with an e-consult system that provides access to genetics specialist consultation, individuals with a likelihood of a genetic predisposition based on clinical findings underwent clinical exome sequencing. Implementing sequential testing allowed for an opportunity to request that families complete a series of clinic visits and testing sent for patient that included both parents. This approach identified a genetic diagnosis in 41% of cases that would otherwise never been diagnosed. Testing allowed for referrals to specialists to manage medical problems associated with the diagnosis and access to interventions and treatments. Our findings demonstrate that leveraging existing resources with a minimal investment in comprehensive genetic analysis immediately improves diagnostic yield in an outpatient clinical setting with immediate impacts on care while simultaneously addressing disparities in diagnostic journeys.