Kathy Baker's family looked like a textbook case for hereditary cancer. Her sister had breast cancer at 32. Her mother had three separate primary cancers. Her grandfather died of aggressive prostate cancer and his mother died of pancreatic cancer. Her oncologist recommended genetic testing in 2000 and she refused, because each of those cancers already had an explanation and none of the explanations was a gene.
She tested nine years later, in 2009, and came back positive for a BRCA1 mutation. Early ovarian cancer was found during the risk-reducing surgery that followed.
Kathy is the founder of My Faulty Gene, a nonprofit that funds genetic testing for patients who are uninsured or who do not meet standard testing criteria, and that helps families appeal insurance denials. In this conversation with Joelle Kaufman she explains cascade testing: what a family history of cancer actually tells you, why a first-degree relative carries a 50% chance of sharing your mutation, why an inherited mutation cannot skip a generation, and why the father's line gets missed by families tracking only breast and ovarian cancer. She and Joelle also cover what genetic testing costs now, what GINA protects and what it does not, why Medicare will not cover testing unless you already have cancer, and what to do when a physician tells you a finding on a scan is nothing to worry about.
If you test positive, there is a specific list of people who need to know. This episode is how to build it.
Podcast Keywords: family history of cancer, genetic testing, BRCA, hereditary cancer, cancer prevention, cascade testing, genetic counseling, cancer risk, ovarian cancer, previvor, patient advocacy, cancer survivorship
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