Her cancer could have been prevented.
Doctors never took note of the history of different and deadly cancers in my late wife’s family during her regular checkups and mammograms. And relatives who were acutely aware of the mutation and the risk to other family members did not speak up and share what would have been life-saving information.
Current HIPAA privacy laws prevent doctors from sharing information about a patient’s positive germline mutation result with other family members without express consent. The duty to warn is instead left to individuals who are often incapable of sharing information about a complex medical subject with other family members. Individuals who either don’t understand genetics and the risk to others or are simply overwhelmed with being diagnosed with a pathogenic variant and the choices that they face. Putting individuals who are not medical or science professionals in the position of explaining germline mutations and the cancer risk to their genetic relatives is not wise, fair, or ethical.
1 in 279 individuals have a genetic mutation that puts them at risk of hereditary cancer. Yet, even with all the hype and bluster about preventing cancer, there is no medical requirement for gathering family cancer history and cascade genetic testing. Two things that are proven to help prevent cancer.
Through genetic testing, my daughter learned she inherited the germline BRCA2 mutation from her mother. A mutation that we now know goes back for many generations. Armed with this knowledge, my daughter has been able to take preventative steps to give her a good chance at a full life cancer-free.
Because I lost my beloved wife to cancer and our child inherited the mutation, I have become a hereditary cancer awareness and prevention advocate. Heartbreakingly, I continue to hear stories of hereditary cancers that could have been prevented but were not. Things need to change. HIPAA laws need to evolve as genomic science advances. And genetic testing should become a standard of care. Especially when there is any family history of cancer.
Nobody should die of a preventable cancer. Nobody!
