What you need to know:
About the Texome Project
Houston is the most diverse population in the United States. Unfortunately, it many of the minorities in Houston are largely underserved and lack access to genomic medicine because of prohibitive cost and lack of insurance coverage.
The Texome Project is a National Human Genome Research Institute (NHGRI) funded program (1R01HG011795-01) to which seeks to make genomics more accessible and useful for minority and underserved children, their families, and their health care providers. Rare disease is a common experience across all human beings, but often rare diseases research and diagnosis are provided to those with resources and influence. We are working to support those who have an undiagnosed disease but are stuck in limbo without further resources or medical assistance to continue looking for answers. Our team includes experts from the Baylor College of Medicine and Texas Children’s Hospital, with collaborators across Texas. Though we are focused on populations in Texas, we are open to applications from other states as well.
We will perform trio whole exome sequencing for diagnostic purposes in ~400 children from minority and underserved diverse backgrounds with undiagnosed disorders. We will evaluate the impact of this genetic sequencing on the medical care of families who would have not otherwise had access to genomic medicine.
This project will help the medical and scientific community to understand how to best implement genomic medicine in a way that in impactful, sensitive, equitable, and ethical to diverse populations.
How will the Texome Project improve my patients’ care and understanding of genomics?
Our priority is patients. We want to find answers for patients but we value each individuals understanding and involvement in the process. We ensure that the informed consent process is straightforward and understandable and continue to be available for questions at any time. Communication is key, which is why we continue to follow up with our participants 2 years after results are given to stay in contact for any new findings, symptoms or questions that come up. We hope to improve understanding and impact of genetic testing to populations who previously lacked access.
Tools we use
AnVIL: AnVIL (Analysis, Visualization, and Informatics Lab) is a tool developed by the NHGRI will facilitate exploration of inconclusive variants. This allows de-identified data from large populations with similar genetic changes to be studied as one cohort. AnVIL ensures data security and solves data storage issues by never allowing the download of data. Instead the data is accessed on secure government servers by authorized and vetted researchers at large research institutions.
GeneMatcher: GeneMatcher is a freely accessible web site designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes. This will help us to connect with researchers around the world to combine effort to find answers for your patients.
MARRVEL : MARRVEL stands for Model organism Aggregated Resources for Rare Variant ExpLoration. It is a one stop shop that searches over a dozen online genetic repositories and tools including OMIM, ClinVar, DECIPHER, gnomAD, and protein databases to give researchers a thorough assessment of the gene before deciding how best to proceed.
