Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

WHY IT MATTERS

If this hybrid model works, patients with rare diseases could access genome sequencing faster and more easily without waiting for a genetics specialist appointment, potentially shortening the diagnostic odyssey that many rare disease patients experience.

Researchers tested whether people could get genetic testing (genome sequencing) without always needing to see a genetics specialist first. They studied 313 people of all ages who had unexplained symptoms and could refer themselves or be referred by any doctor. The study found that people who referred themselves were just as likely to get a diagnosis as those referred by specialists. This suggests a new way to make genetic testing available to more people while still having genetics experts review the results.

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Abstract: Genome sequencing (GS) has emerged as the gold standard for diagnosing patients with rare diseases. As with many emerging technologies, equitable access remains a concern. To evaluate the feasibility and diagnostic impact of expanding access to GS, we report our experience implementing CincyKidsSeq, a prospective study offering GS as a "proband-first" test. Participants of all ages with at least one symptom were referred by genetics or non-genetics healthcare providers, or alternatively, were self-referred from February 2024 to February 2025. This diverse referral structure was evaluated for diagnostic yield while maintaining clinical oversight through a hybrid model in which reportable variants are delivered through genetic providers. The overall diagnostic yield of GS on 313 participants Authors: Theobald et al. Journal: Clinical genetics MeSH: Humans, Female, Male, Adult, Whole Genome Sequencing, Referral and Consultation, Genetic Testing, Genetic Services, Middle Aged, Rare Diseases

ASK YOUR DOCTOR

Ask your primary care doctor whether your healthcare system offers direct-access genome sequencing programs like CincyKidsSeq, or inquire about hybrid genetic testing models that don't require a genetics referral.