Hereditary cancer demands a new medical discipline

Sometimes we are forced to learn things in our life, whether we like it or not. Learning about hereditary cancer was one of those things for me.

When my late wife’s BRCA2 triple negative breast cancer was diagnosed, in addition to becoming her primary caregiver, I also became her primary researcher. Due to my wife’s malignant tumor, I learned many new words related to cancer and cancer treatment. Of course, many of those words that I wish I never had to add to my vocabulary.

I became an advocate for the “adjacent BRCA2 mutation” in the hereditary cancer community after my wife and our daughter were found to carry the mutation following my wife’s diagnosis. One of the many things I learned about hereditary cancer is that we desperately need a new medical discipline. I invented a word for this discipline, “previvology”.

And with Previvor Day coming up on September 28, I thought I’d share that idea.

Previvology would be a practice solely dedicated to the detection of germline mutations and the prevention or early detection of hereditary cancers. It would be both doctor and detective. If there is a family history of cancer, your primary care physician will refer you to a previvologist where a possible genetic cause will be determined or ruled out.

While most cancers are sporadic, about 10 to 20 percent of cancers are due to an inherited genetic mutation, according to the National Cancer Institute. So, do we really need a new discipline just for these individuals? The answer is a resounding yes! According to the National Cancer Institute, nearly two million new cases of cancer are diagnosed each year in the United States, which means that 200,000 to 400,000 cases are linked to hereditary cancer when you do the math. And new cancer-related mutations are being added as the science of cancer-associated genes evolves.

Like a detective trying to figure out how to stop a serial killer – what cancer is – the doctor would use every diagnostic tool at his disposal. Start with a chart of all victims by creating a family health/cancer pedigree chart. (Having one to share with your family and doctor, especially if there’s a history of cancer in your family, is a good idea. How to create a simple one is explained at the end of this article.)

Another reason for the creation of a new medical discipline is my wife’s tragic cancer story. Despite having a devastating family history of cancer, no doctor took note of the story and took steps to determine if there was a hereditary cause. Admittedly, none of the cancers on the long list seemed to be linked: melanoma, pancreas, breast, liver, non-Hodgkin’s lymphoma, adenocarcinoma of unknown origin. But that’s where being a detective would have come in and probably saved my wife’s life.

I also see a need after reading some posts on the FORCE message boards. Stories often reveal how a hereditary link to cancer was missed by doctors until a devastating cancer diagnosis forced further evaluation. Even the blogs here on CURE® sometimes talk about missed links to hereditary cancer.

In addition, there are the survivors. Preventive refers to someone who has not been diagnosed with cancer but is at increased risk due to genetic mutations and/or a family history of cancer. My daughter is a BRCA2 survivor and part of her medical care, besides prophylactic surgery, is to get screened regularly for signs of cancer. However, she has to deal with several different doctors as well as her primary care physician just to get this care. And getting all the doctors to communicate with each other sometimes takes a huge amount of effort.

Having a single physician dedicated to the practice of hereditary cancer awareness and prevention would not only save lives but also save on the huge expenses incurred due to cancer that was not prevented or detected early.

Create your family health pedigree

Drawing a family health/cancer history pedigree is really quite simple. Start with your grandparents. You can use any shape to indicate gender. A square and a circle are the usual shapes. Include only blood relatives.

Next, draw shapes for your parents and aunts and uncles. Connect them

all with lines. Then add yourself and your siblings, followed by your children and as many cousins, nieces and nephews as you can fit on the page.

Finally, go back and add, if applicable, the person’s age when the cancer or other serious health condition was first diagnosed. If the person is deceased, add a date of death. More details on the type of cancer, etc. can also be added if deemed necessary.

That’s it. It doesn’t need to be elaborate, but it’s a good way to introduce your doctor to your family’s medical history and give them a good “picture” of any risks that might need screening. And screening saves lives.

(The pedigree pictured above is based on my late wife’s family cancer history. I know, holy %$#@!. Unfortunately, I was only aware of my wife’s family cancer history until after his diagnosis and genetic counseling. That’s why I’m now an advocate for hereditary cancer awareness and prevention in the hope that sharing information like this can prevent suffering and save lives.)

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