Healthcare inequality and access to genetic testing is a pervasive challenge across the United States, often most acute in underserved regions with high poverty rates, scarce medical resources, and diverse ethnic populations1. For children with rare genetic disorders, the stakes of inadequate healthcare can be particularly high. In the context of rare disease, an early diagnosis is essential to provide targeted care and support for families, but many children in under-resourced areas face a prolonged diagnostic odyssey. This is the reality for many in Texas’s Rio Grande Valley (RGV), where more than 1.4 million residents contend with high poverty rates, low insurance coverage, and limited access to genetic testing services.
Project GIVE (Genetic Inclusion by Virtual Evaluation) which was spearheaded by the University of Texas Rio Grande Valley (UTRGV) and Baylor College of Medicine, has emerged as an important initiative to combat these challenges; its findings were recently published in the Journal of Neurodevelopmental Disorders. This National Institutes of Health (NIH)-funded project leverages a virtual genetics service platform called Consultagene to provide whole genome sequencing (WGS) (provided by Baylor Genetics) and comprehensive genetic evaluation remotely. By addressing health disparities and expanding access, especially for pediatric patients, Project GIVE is championing a more inclusive approach to genetic testing that brings essential care to those who need it most.
Understanding the Problem: Genetic Testing Inequalities
Genetic disorders are life-altering, often leading to severe physical and neurodevelopmental issues or even death if undiagnosed2. A timely genetic diagnosis can allow healthcare providers to implement disease-specific interventions, provide guidance on recurrence risks, and support families with the psychosocial challenges that come with rare diseases. However, access to genetic testing services remains limited in communities with high poverty rates or those dominated by ethnic minorities. Studies indicate that Hispanic/Latino individuals in the U.S. are less likely to receive genetic testing than their non-Hispanic counterparts. This trend is evident in the RGV, where healthcare is constrained by both financial barriers and a shortage of genetic specialists.
In underserved areas, many local healthcare providers lack specialized genetics training, making it challenging to integrate genetic testing into their practices. For patients in need of genetic evaluations, this can mean a long and difficult journey to diagnosis, often involving travel to specialized centers hours away.
These barriers contribute to what’s often called a “diagnostic odyssey,” while families endure prolonged uncertainty, miss potential opportunities for clinical trials, and face an increased risk of recurring genetic disorders within the family.
Project GIVE: Virtual Solutions to Complex Barriers
Project GIVE introduces a virtual solution to these challenges, combining advanced genetic evaluation with WGS through the Consultagene platform. The aim is to reduce the time to diagnosis (TTD) for pediatric patients and to empower local healthcare providers by increasing their genomic literacy. This innovative project model effectively addresses the limitations imposed by geographic, economic, and educational barriers.
Between February 2022 and January 2024, 196 children with suspected genetic conditions were referred to Project GIVE by healthcare professionals in the RGV area. Referrals were made by a diverse array of specialists, including pediatricians, endocrinologists, and developmental therapists. Nearly all participating families (98%) identified as Hispanic or Latino, and 40% preferred to communicate with healthcare providers in Spanish, underscoring the importance of culturally and linguistically responsive care. This tailored approach to serving a predominantly Hispanic population can enhance trust and engagement, ultimately driving more effective healthcare outcomes.
Educating and Engaging Local Providers
Recognizing the need for local healthcare provider involvement, Project GIVE conducted two Continuing Professional Education (CPE) events that saw robust participation from pediatricians, therapists, and social workers. These events equipped providers with foundational knowledge in genetics, enabling them to identify cases that could benefit from further genetic investigation. This engagement led to an increase in patient referrals, highlighting the value of ongoing professional education in fostering an interconnected network of providers attuned to genetic healthcare needs.
As the project evolved, so did its delivery model. Originally designed as a peer-to-peer consultative initiative, Project GIVE adapted to logistical challenges, transitioning to a more traditional telemedicine approach where a genetic counselor, geneticist, and research coordinator remotely assessed patients. The flexibility of this model allowed Project GIVE to meet the needs of families more effectively, reinforcing the necessity of adaptable healthcare solutions for diverse populations.
Overcoming Systemic Barriers and Streamlining Diagnostics
Limited access to comprehensive patient records initially posed challenges for Project GIVE, as children in the RGV often see multiple specialists across different healthcare systems. This fragmentation can hinder diagnosis and treatment efforts. Project GIVE’s clinical team adapted by focusing on essential diagnostic information to prioritize children likely to benefit from WGS. By doing so, the team ensured that even without exhaustive medical records, the essential steps toward diagnosis were available to all children in need.
Notably, Project GIVE’s bilingual study coordinator—a native of the RGV with a background in social work—played an instrumental role as a “patient navigator.” This role, more commonly seen in oncology care, is crucial in connecting families to additional support resources such as school and mental health services and local specialists. Their deep understanding of the community’s unique needs fostered strong connections with families and providers alike, bridging cultural and logistical gaps that often impede access to care.
Early Successes and a Roadmap for the Future
The success of Project GIVE in the RGV area can be testament to the transformative power of virtual care in genetic testing, especially for underserved pediatric populations. The Consultagene platform made a positive impact by integrating virtual health delivery with WGS, helping children receive much-needed genetic assessments without the need to travel. Coupled with Baylor Genetics’ WGS testing capabilities, this pioneering model addresses not only the practical challenges but also the cultural dimensions involved for healthcare access.
The significance of Project GIVE can extend beyond precision diagnostics. It can help reshape healthcare delivery models and establish a framework for similar programs in other underserved regions. Key to this sustainability is Project GIVE’s commitment to educating local providers, promoting bilingual and culturally attuned care and maintaining a support network that includes patient navigators. This holistic approach is instrumental in mitigating healthcare disparities and advancing genomic healthcare equity.
The Future of Genomic Care in Underserved Communities
Project GIVE’s impact demonstrates that virtual genetics services have the potential to transcend barriers and make healthcare more accessible, particularly for under-resourced and marginalized communities. As the project continues to enroll more pediatric patients, the research team is also working on a qualitative study to understand parents’ perceptions of genetic testing and the barriers they face in accessing comprehensive care.
The roadmap outlined by Project GIVE provides a blueprint for future programs aiming to address health disparities. By prioritizing flexibility, cultural competency, and local collaboration, this model has laid a strong foundation for the future of genetic testing in underserved communities. Initiatives like Project GIVE help affirm that inclusive, equitable healthcare is both achievable and essential for all children, regardless of background or resources.
Conclusion
Project GIVE represents the transformative potential of integrating WGS with virtual care platforms to address healthcare inequalities in underserved communities. By enabling earlier diagnoses and expanding access to genetic testing, particularly for Hispanic/Latino families in Texas’s Rio Grande Valley, Project GIVE is a positive case study for advancing standard of care but also fostering trust and engagement among local providers and families. The project demonstrates how innovative approaches, culturally responsive care, and local partnerships can help close the genomic divide and create a more inclusive healthcare system.
To learn more about how Baylor Genetics is making whole genome sequencing accessible for pediatric patients and working to improve access to genetic testing, visit our website and explore the future of genetic care.
Sources:
- https://www.gao.gov/blog/why-health-care-harder-access-rural-america
- https://www.childrenshospital.org/conditions/genetic-disorders
