The journey of the texome project: Bridging the gap in genomic medicine
Imagine this: Kamila, a vibrant 8-year-old, experiences years of debilitating muscle weakness and unexplained fevers. Doctor after doctor runs test after test. Yet, Kamila’s condition remains a mystery, leaving her parents scrambling for answers. This is the difficult reality for the more than 25 million individuals (about the population of Texas) living with rare diseases in the United States.
About 80% of these rare conditions have an underlying genetic cause, and researchers and clinicians constantly are improving genomic technology to better the lives of families living with rare diseases. However, broad access to advanced genetic testing has historically been limited, especially for families who have insurance barriers, lack the time off to attend medical appointments or live far from specialty clinics.
Looking at our own state of Texas, 20% of adults lack health insurance, more than one-third live below 200% of the federal poverty line, and 14% of the population has limited English proficiency. Advanced genetic testing, like exome sequencing, as well as a formal genetic evaluation, often are out of reach for families from these marginalized communities.
Clinicians and researchers at Texas Children’s Hospital and Baylor College of Medicine knew that a correct genetic diagnosis could transform lives by guiding treatment, predicting outcomes and influencing family planning decisions. They wanted to level the playing field for all patients with undiagnosed diseases. Thus, the Texome Project was born in 2021, funded by the National Human Genome Research Institute (NHGRI) and Texas Children’s Hospital through philanthropic avenues to bring the revolutionary benefits of genetic evaluation and genomic testing to those who had financial or other socioeconomic barriers to accessing these services.
The Texome Project uses exome sequencing, a powerful tool that analyzes key portions of a person’s genetic code. This detailed picture can identify the responsible genetic changes behind a disease, finally providing a diagnosis and ending years of uncertainty for families like Kamila’s. Texome’s focus on equity is crucial. By including a more diverse range of patients, we can create a more complete picture of rare diseases, potentially leading to breakthroughs that benefit everyone.
Recently, we published a paper on the design and progress of the Texome Project, underscoring its impact on the lives of Texans with undiagnosed rare diseases. As of now, 187 families have been enrolled in the Texome Project, and 33% of enrollees have received a partial or full genetic diagnosis.
For 22 children and adults, the Texome Project has led to changes in medical management, which translates into potential treatments or preventative measures. Importantly, six people who received a diagnosis lacked health insurance entirely, which raises the possibility that they may never have received a diagnosis without access to genetic services through the Texome Project. With access to genetic services come questions about data privacy and security, especially for minors receiving genetic testing. To resolve these questions, all research participants consent to the possible risks, limitations and benefits of this research, emphasizing its voluntary nature and encouraging patient autonomy.
The Texome Project isn’t just about individual cases. Looking to the future, the collection of diverse data creates an opportunity for the scientific community to use this information to further benefit underserved groups who have been underrepresented in genetic research for decades.
Our team has identified uncertain variants and genes previously not known to cause disease in our diverse cohort that are now considered diagnostic for these families thanks to novel analysis and research done through the Texome Project.
So, what next? While we have two more years of funding, it is important to start thinking now about how this work can be sustained in the long term. We cannot accept a future where uninsured patients go back to not getting genomic testing, or where families cannot get answers. Hospital systems and insurers must be aware of the psychosocial and financial benefits of providing genetic diagnoses in order to change policy in the future. We hope to see continued expansion to genetic testing coverage by both public and private payors following the example of Texas Medicaid, which began providing some coverage of genome sequencing.
In the end, the Texome Project is more than just a research initiative. It’s a story of hope, resilience and the relentless pursuit of equity in healthcare. Through our work, the team is not only transforming the lives of individual families but also paving the way for a more inclusive future in genomic medicine.
By Blake Vuocolo, MS, CGC, Genetic Counselor, Baylor College of Medicine, and Ryan German, Genetic Counseling student, School of Health Professions
