My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to underserved, uninsured, and underinsured individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access, including family members of individuals with a known mutation.

To help illustrate the importance of genetic testing, we share the story of our founder, who was diagnosed with breast cancer in 2000. Due to a strong family history of cancer (including her sister, her mother, her mother's father, and his mother), Tyler oncologist, Dr. Frank Ward, recommended that she consider genetic testing. After 9 long years of his nudging at most every checkup, she finally agreed to the testing in 2009, and learned that she did, in fact, have a "faulty gene"--a mutation (change) in the BRCA1 gene. Her particular mutation meant she had an up to 85% chance of having breast cancer again, and an up to 65% chance of having ovarian cancer. Knowing that ovarian cancer is often not diagnosed until it is late stage and can be difficult to beat (thus its nickname--"the silent killer"), 3 months after receiving her genetic test results she opted for "preventive" surgeries to reduce her risks of additional cancer. Much to her surprise and to the surprise of her surgeon, her "preventive" surgery revealed she already had early Fallopian tube/ovarian cancer! She credits genetic testing (and a very persistent oncologist) with saving her life! As a result of her experience, in 2020 she founded My Faulty Gene as a way to "pay it forward" and help others both to understand the importance of genetic testing, and to provide free access to genetic counseling and genetic testing as needed.

In addition to providing testing of more than 60 known genes related to numerous cancers, as well as cancer syndromes such as Li-Fraumeni syndrome, Lynch syndrome, and Hereditary Breast and Ovarian Cancer syndrome, My Faulty Gene also provides testing for people with a personal or family history of heart disease. Heart disease screening panels include testing of more than 75 genes associated with diseases such as Brugada syndrome, Familial Dilated Cardiomyopathy, Familial Hypercholesterolemia, Familial Hypertrophic Cardiomyopathy, and Long QT syndrome.
Identifying a "faulty gene" through genetic testing does NOT guarantee that you will develop the disease associated with that mutation. But knowledge is a powerful thing! If you know you are at a higher risk of disease, your medical team can begin targeted screening and surveillance--which could be lifesaving.

IN THEIR WORDS:
"Thank you so much for all your help--I really appreciate My Faulty Gene!" (33-year-old with no personal history of disease, but whose mother died of breast cancer at age 38; CHEK2 mutation identified)
"Thank you . . . will seek a referral. With my positive result, my son is also interested in testing." (Family history of cancer--no personal history of cancer; TP53 mutation, Li-Fraumeni syndrome, identified)
"My test came back NEGATIVE! I'm so relieved and so very thankful that you gave me this opportunity." (30-year-old ovarian cancer survivor with no family medical history since she was adopted)
"Thank you for this opportunity to know the unknown. . . I hope it will give me a sense of power over my own body." (Family history of cancer; ATM mutation identified)
"I already knew about my BRCA mutation, which was found by a single gene test of a mutation previously identified in my sister. But thanks to the 147-gene test My Faulty Gene provided, I learned I have 2 additional mutations I knew nothing about!" (Personal history of cancer and family history of heart disease; Cancer and Cardio Screening)

As you consider donating to My Faulty Gene, we are committing that 100% of the donations received through ETCF's East Texas Giving Day will be used to provide genetic testing and genetic counseling services, and none of the donations or matches will be used toward our operational expenses. Our costs to provide both genetic counseling and genetic testing range from $268 to $375, depending upon the test(s) required. And if a genetic mutation is identified as a result of our testing, we also provide an opportunity for adult family members to receive genetic testing to see if they are also affected by the identified mutation(s).

While we are participating in ETCF's East Texas Giving Day to raise additional financial support for our organization, we also are participating in order to raise awareness about genetic testing. So we would be remiss if we did not ask this question: DO YOU HAVE A FAULTY GENE?