The Texome Project is being conducted within The Texas Medical Center in Houston, Texas. The study can include anyone who lacks access to genomic medicine because of financial, historical, and/or systematic barriers. Both healthcare providers and individuals may contact us to ask about eligibility and we will access if The Texome Project might help to make a diagnosis. If you think you, your patient, or your child could be a good fit, please contact us.

What Texome Offers

  • Whole Exome Sequencing

    We will perform whole exome sequencing (WES). Whole exome sequencing is a type of genetic analysis that looks at the regions of genetic material that we know to be important to human health. We will then issue a certified clinical report explaining variants in known disease-causing genes. We will provide genetic counseling and match diagnoses with expertise in surveillance and treatment of genetic disorders.

  • Bioinfomatics Evaluation

    We will re-analyze exome data from unsolved cases and prioritize genes of interest based on an informatic tool called MARRVEL. This tool is integrated with artificial intelligence to sift through all the data and identify disease relationships that humans can’t always connect.

  • Functional Studies

    We will select candidate variants from still unsolved cases and develop living models. We will study specific genetic changes from individuals in our study and assess if the unique genetic changes affect protein function, which could play a role in disease.

  • Continuing Follow-Up

    We will develop and launch a longitudinal follow-up with genetic counseling and clinical re-evaluation using both in person and virtual visits at 6 months, 1 year and 2 years in which we will re-evaluate key genes in the context of the individual. We will also attempt to match genetic changes to others who share have similar or identical genetic changes from other genomic studies to try to see the bigger picture and understand the illness.

Who is eligible?

Good candidates for the Texome Project are:

  • Individuals from an underserved population with a suspected rare disease and without the means to pay for DNA sequencing.

    • For example: Birth defects, developmental delay, learning difficulties, seizures, heart disease, muscular disorders, or difficulty fighting infections/low immune system

  • People with no insurance

  • People with public insurance

    • ex. Texas Children’s Health Plan, Community Health Choice, Superior HealthPlan, or UnitedHealthcare Community Plan

If you think you could be eligible or have questions please don’t hesitate to contact us at texome-project@bcm.edu

Is there any risk to being in the Texome Project?

Any research study comes with some risks. We will discuss the potential benefits and risks with each participant before completing enrollment in the study.

Do I have to pay to be a part of the Texome Project?

You will not have to pay for any study-related visits. The genetic testing and following consultations will come at no cost.

What might the results show?

The results could show us a change in a known disease-causing gene that could be the key to a diagnosis. However, they might come up with no new information or information which does not help doctors to understand the disease. We are prepared to use all of the resources at our disposal to find an answer and walk with you for at least 2 years while we work to understand the condition.

Do I have to join the Texome Project?

No. This is a voluntary study and there is no obligation to participate.

What will each visit look like?

You will be asked to complete 5 study visits over a 2-year period. You will not be billed for any study-related visits. That means that you/your child’s genomic testing will be done at no cost.

Visit 1: Pre-Test Genetic Counseling, Informed Consent, and Sample Collection (1 – 2 hours)

  • A well-trained person from our study team will review a consent form with you that explains all the things that are part of the study and the possible risks and benefits, so you can decide if you want to take part.

    If you consent:

  • You will meet with a genetic counselor who will discuss the testing, ask about your child’s medical history, and the family history of both biological parents either in person or virtually.

  • We will collect a blood sample from you and a saliva sample from one or both biological parents. If neither biological parent can come to the visit, we will send a saliva collection kit for them.

  • We will work with you to find a convenient time for your next study visit.

Visit 2: Return of Test Results and Discussion of Next Steps (1 – 2 hours)

  • About 2-3 months after you provide a sample, you will meet with a genetic counselor to review the study and to receive the results. We will discuss any questions you have and personalized next steps we reccommend.

Visit 3: Follow Up Visit 1 (~1 hour)

  • You will complete a survey with the study coordinator, either in person or online, about 6 months after you receive results.

Visit 4: 1 Year Follow Up Visit (~1 hour)

  • About 1 year after receiving the test results, you will complete a survey in person or online and meet with our study team to share your experience and discuss any updates to your case.

Visit 5: 2 Year Follow Up Visit (~1 hour)

  • About 2 years after receiving the test results, you will complete a survey in person or online and meet with our study team to share your experience and discuss any updates to your case.

At the end of all 5 visits, you will receive a $100 gift card to compensate you for time spent in appointments and visits with us. Parking and travel costs for any in-person visits will be reimbursed.