School of Medicine Publications and Presentations

Document Type

Conference Proceeding

Publication Date

2024

Abstract

Introduction

Providing an accurate genetic diagnosis to children in a timely manner is crucial for providing appropriate medical interventions, counseling families about recurrence risks, and addressing the psychosocial and financial challenges that are known to be associated with diagnostic odysseys. Unfortunately, underserved and under resourced areas across the nation have poor access to genetic testing. There is a significant disparity in access to genomic healthcare in the Rio Grande Valley (RGV) along the Texas-Mexico border, which has a population of about 1.4 million residents and no local full-time genetics provider. Over 94% of the population in the RGV is Hispanic, 34% of individuals are uninsured, and upwards of 40% of children in these four counties live in poverty. A lack of expertise of the frontline healthcare providers in identifying individuals in need of a genetics referral and the limited pool of highly trained and qualified board-certified geneticists in the region impedes patient pathways to receive timely genetics evaluation and testing.

Project GIVE is an NIH-funded research study at Baylor College of Medicine and University of Texas Rio Grande Valley (UTRGV), initiated in February 2022 that was designed to change the current clinical practice in the region. By leveraging Consultagene, a cutting-edge EHR-Agnostic Tele-Engagement Platform, we can provide timely genetic evaluation and whole genome sequencing (WGS) to improve genetic health of less resourced children in the RGV. Additionally, we improve genetics expertise among frontline healthcare providers in the RGV through CME events that cover various genetics concepts.

Methods

Frontline providers – including physicians, nurse practitioners, developmental therapists, and medical assistants – refer patients directly to Project GIVE through the HIPAA compliant virtual Consultagene portal (www.consultagene.org). Families accepted into the study meet with the study’s bilingual research coordinator at the UTRGV Specialty Clinic for a virtual genetic evaluation with the BCM geneticists and genetic counselor (“Visit 1”). Buccal samples for trio GS are sent to Baylor Genetics, and “Visit 2” is scheduled when results are available. Return of results counseling is provided, with follow-up recommendations as needed. Patients are longitudinally followed for 1 year. Clinical Sequencing Evidence-Generating Research (CSER) surveys are utilized at all study visits to collect demographic information and assess study outcomes.

In addition, two in-person CME conferences have been delivered to improve genomic competency of the frontline providers. Surveys were administered before and after the CME event to assess the impact of the CME event on comfortability with genetics concepts. Data were also collected regarding clinic demographics and access to care factors.

Results

To date, 147 families have been referred through Consultagene, 102 were accepted, and 49 families have completed Visit 1. Most families identify as Hispanic/Latino (97%), and about half have an annual household income of less than $20,000. WGS results have been returned to 38 families. Thirteen children received a diagnosis or partial diagnosis (34%). We are exploring potential new gene-disease associations for three of our participants with negative WGS. Preliminary results from surveys show that families feel satisfied with WGS results and the use of telemedicine for return of results.

Attendees of the CME events reported that they struggled knowing when to refer patients and how to interpret genetic results. They also report challenges with accessing medical records for patients with complex diseases. Providers reported increased comfortability with several genetic concepts post-CME.

Conclusion

Project GIVE addresses genomic health disparities in under-represented populations by offering virtual genetic evaluation and WGS to pediatric patients with rare diseases. We believe that our model of integrating community engagement and using an advanced virtual platform can be replicated in other disadvantaged areas that lack genetic professionals and resources to improve genomic health of children.

Comments

Under a Creative Commons license http://creativecommons.org/licenses/by-nc-nd/4.0/

Publication Title

Genetics in Medicine Open

DOI

10.1016/j.gimo.2024.101412

Academic Level

faculty

Mentor/PI Department

Pediatrics

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