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Addressing inequality in medical research: Texas Children’s and Baylor College of Medicine offer free genetic testing to low-income individuals

Texas Children’s Hospital and Baylor College of Medicine faculty are pleased to announce the ‘Texome Project’, a community-wide genomics initiative that will expand access to state-of-the-art genetic testing to low-income families who may not have private medical insurance or other financial means to pay for these expensive tests. The effort will be led by Dr. Hugo Bellen, a prominent neuroscientist and professor at Baylor, and Dr. Michael Wangler, a geneticist at Texas Children’s and assistant professor at Baylor. Drs. Bellen and Wangler are also investigators at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s and direct the BCM-UO Model Organism Screening Core at the Undiagnosed Diseases Network (UDN), a first-of-its kind national network that brings together clinical and research experts from across the world to solve complex medical challenges.

Through this initiative, Drs. Bellen and Wangler and their team will offer free genetic tests to 100 individuals with undiagnosed mysterious medical conditions or developmental delays each year for five years. The goal is to sequence their entire exome (the part of the genome that codes for proteins) so they can provide a definitive diagnosis and, perhaps, a treatment for these individuals in the future.

The team will use a unique, multidisciplinary diagnostic approach that involves bringing together leading neurologists, geneticists, psychologists, social workers, computational scientists, and biologists to collectively solve complex medical mysteries. In recent years, the UDN and MOSC have used this approach to successfully identify and diagnose patients with previously unknown neurodevelopmental disorders such as Mitchell disease and intellectual disabilities caused by mutations in IRF2BPL, CDK19, Polycomb complex genes, among others.

“Genetic testing and diagnosis are expensive and are not currently covered by Medicare, often excluding low-income individuals or those without private insurance,” Wangler said. “With this important initiative, our goal is to leverage our unique expertise to broaden access to genetic testing to a wider group of patients, many of whom are typically unable to receive the benefits of advanced genetic testing and are underrepresented in biomedical research in general.”

The team plans to recruit patients from genetic clinics and through referrals from pediatricians and other providers in the Greater Houston area. The first step is to collect blood samples from pediatric and adult participants and their biological parents to sequence their DNA. Next, experts in Dr. Zhandong Liu’s laboratory at the Duncan NRI will use a variety of advanced computational tools, including their innovative MARRVEL bioinformatics platform, to analyze the sequencing datasets and identify gene variants that might be responsible for a patient’s symptoms. Finally, to pinpoint the gene variant(s) for each individual’s condition, researchers in the Bellen laboratory and MOSC will conduct a variety of experiments to test which of the candidate gene variants can recapitulate key features observed in individuals in model organisms such as flies and mice. Identifying the causative gene variant will be the first step toward finding new therapies for these patients.

“We are excited by the transformative potential of this project,” Bellen said. “In addition to finding answers and improving the lives of the participants and their families, we expect this endeavor will have broad, far-reaching implications. With access to genetic data that is often unavailable and underexamined, researchers can  uncover novel insights about new and rare genetic disorders and open doors to greater discoveries. This  innovative study will also help create a roadmap for how  future genomic-functional studies can be designed to include patients from different races, ethnicities and socio-economic classes.”

In addition to free genetic tests and analysis, participants will also receive genetic counseling from top-notch geneticists and genetic counselors at no charge for the duration of the project. The participants will also be compensated for their travel and receive $100 for participating in the study.

“We opened this institute a decade ago to make discoveries that would improve the lives of those who are least able to advocate for themselves,” Dr. Huda Zoghbi, founding director of the Duncan NRI, said. “This initiative is a perfect extension of our mission, and I am proud of the team for taking bold steps to address systemic inequalities in the medical research field.”

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This study will be supported by the National Human Genome Research Institute of the National Institutes of Health (R01HG011795) and by generous philanthropic donations to the NRI. The content does not necessarily represent the official views of the National Institutes of Health.

Rajalaxmi Natarajan, PhD
Thursday, December 2, 2021