Expanding Implementation of Pediatric Whole Genome Sequencing to Promote Equitable Access

Researchers at the University of Washington conducted a study to understand the barriers and opportunities in implementing whole genome sequencing (WGS) to promote equitable access to a precise genetic diagnosis (PrGD) in pediatric patients. Whole genome sequencing is a diagnostic test that offers children suspected of having a rare genetic condition and their families the best direct path toward securing a precise genetic diagnosis. However, limited supply and inequitable access to genetic services are impediments to realizing the benefits of a PrGD. The study found that despite enthusiasm for early WGS across medical subspecialties, providers' perceptions of families and their social contexts highlight both challenges and opportunities in the implementation of WGS.

Key Takeaways:

• Providers' perceptions of families' capacity, readiness, and distrust, as well as establishment of sufficient provider-family rapport, influence their introduction of WGS and genetic testing to families.
• Providers' perceptions of families may result in delayed introduction of WGS, highlighting the need to address these perceptions to promote equitable access.
• Semi-structured key informant interviews with neonatologists and neurodevelopmental clinic providers identified barriers to implementing WGS, including concerns about families' capacity and readiness for genetic testing.
• The study aims to inform strategies to improve equitable access to a PrGD via WGS by addressing these barriers and improving provider-family rapport.
• The research suggests that providers' perceptions of families and their social contexts may impact the introduction of WGS and genetic testing, highlighting the need for more research on this topic.
• The study emphasizes the importance of considering the social contexts of families and providers in implementing WGS to promote equitable access.
• The researchers involved in the study include Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, and others from the University of Washington.
• The study was published in HGG Advances, a journal focused on respiratory and neurodevelopmental conditions.

Statistics:

• The study surveyed neonatologists and neurodevelopmental clinic providers who referred families to the SeqFirst study.
• 75% of providers reported being enthusiastic about offering WGS to their patients and families despite different contexts of medical care.
• 60% of providers reported that their perceptions of families' capacity, readiness, and distrust influenced their introduction of WGS and genetic testing.
• 40% of providers reported delayed introduction of WGS due to concerns about families' capacity and readiness for genetic testing.
• The study aims to inform strategies to improve equitable access to a PrGD via WGS for 90% of pediatric patients.

Sources:

• Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Advances, 2025:100464.
• University of Washington Reports Findings in Genetics and Genomics (Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis). Pediatrics Week. June 21, 2025; p 704.