For Immediate Release: Wednesday, October 21, 2026, 1:50 p.m. U.S. Eastern Time
Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected]
Presented By: Blake Vuocolo, MS, CGC, Baylor College of Medicine
Rockville, Md. – Children with rare diseases in medically underserved communities often face long delays in accessing genetic specialists and receiving a diagnosis. A five-year NIH-funded program along the Texas-Mexico border demonstrates that hybrid telehealth evaluations and genome sequencing can expand pediatric genetics services while identifying genetic diagnoses that inform medical care.
Project GIVE at Baylor College of Medicine used the Consultagene telehealth platform to connect children in the Rio Grande Valley and El Paso with a remote genetics team in Houston. Families visited a local study site for a hybrid virtual evaluation, and genome sequencing results were returned remotely.
Between February 2022 and September 2026, the program received referrals for 558 families from 66 healthcare providers across 15 specialties. Of the 241 families who received genome sequencing results, 91 children, or approximately 38%, received a diagnosis or partial diagnosis. Among those children approximately two-thirds experienced a change in medical management.
Most enrolled children were Hispanic or Latino, and many experienced socioeconomic and geographical barriers to specialist care. 58% had Medicaid, while 69% lived below 200% of the federal poverty level. Nearly two-thirds of surveyed families said they would have difficulty obtaining an in-person genetics evaluation, most commonly because of financial barriers or insufficient local resources.
Families generally viewed the virtual examination as comparable to an in-person visit, and 99% reported high satisfaction with remote return of results.
The findings offer real-world evidence that telehealth can extend pediatric genomic services to underserved regions. Further studies could help determine how the approach affects diagnostic timelines, costs, and outcomes compared with conventional care.
About the American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.
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