"What is standard of care in cancer treatment?" you may ask.

If that has ever crossed your mind, you are not alone, every cancer patient is introduced to standard of care personally.

"In healthcare, the 'standard of care' refers to the level of care that a reasonably competent and skilled medical professional would provide under similar circumstances," according to AI.

That definition is straightforward.

I ask: What happens when you have a family history of cancer and the doctor is not listening?

Americans have become numb to and too dependent on the healthcare system. Run a little fever and the school says stay home. After a few days, the school requires a doctor's note or they send you to a judge. I don't know about you but it seems like the system is designed in favor of sending everyone to the doctor. That may not be a bad thing but then again does your doctor actually listen to you?

Our family became aware of our higher than average risk of cancer in 2018. After having lost my mom to cancer in 2016 and a brother being diagnosed in 2018 the reality set in. The doctors were right, something was wrong. Lynch syndrome.

Lynch syndrome has a long history in America. Dr. Aldred Scott Warthin had discovered and studied a family with a higher than normal rate of cancer. That was in the year 1895 and that family would become nown as "Family G."

Henry Lynch in 1961 published data from two family pedigrees. Those families noted as Family N in Nebraska and Family M in Michigan were plagued with cancer diagnoses.

According to a Pub Med article by Brian J Bansidhar and Jennifer Silinsky a quote from that article states: "One of the family members presented in delirium tremens and explained his alcoholism by stating, “Everyone in the family dies of cancer.”

So back to the question, should genetics testing be "standard of care" when a person is diagnosed with cancer? The American Society of Clinical Oncology (ASCO), an organization network of more than 50,000 oncology professionals, recommends considering genetic testing when personal or family history suggests a genetic cause of cancer. But is that enough? Do people even know their family medical history? Most do not.

Lynch syndrome is often known as hereditary non-polyposis colorectal cancer, or HNPCC) or familial adenomatous polyposis (FAP). The American Cancer Society has a dedicated page about Lynch syndrome for those of you interested in learning more.

So by now, you must be wondering what is Lynch syndrome? What does it do? How does it increase a persons chance of getting cancer?

It's because of mismatched repair genes. Sounds odd doesn't it? So to explain this without a bunch of technical terms that you may have to Google, I will try to explain it briefly and clearly from my research. This is how I understand Lynch syndrome. Mismatched repair genes are in our DNA to correct slight alterations when cells rebuild. Doctors and researchers are learning more everyday about the role of the mismatched repair gene system. We get a copy of each DNA repair genes from each parent. The main genes are MLH1, MSH2, MSH6, PMS2, and EPCAM. When a mutation occurs in any of the mismatched repair genes, it often leads to a higher incidence of cancer, your immune system simply doesn't recognize the problem and the cells continue to multiply and divide causing a tumor. Those germline mutations in the DNA repair genes have the possibility of being passed on to the next generation, your children. Since you get one gene copy from each parent, the chance of your children inheriting Lynch syndrome is 50%.

Let me tell you what we experienced in 2022 after my son's CT scan at his initial diagnosis. What happened has led me to believe that the lack of genetic testing early on in a person's diagnosis of cancer may cause irreversible harm.

In September 2022 I personally hand delivered my mother's and brother's genetics test results directly to the doctors who diagnosed my son's brain tumor.

I told them "My family has Lynch syndrome."

They did not order a genetics test.

They did not offer any guidance on the situation.

Surgery was the only option.

Think about that a minute. I know a little about the Lynch syndrome and I had a better than average understanding of what was happening. I knew that our family had a mutation in MSH6. What we did not know was had Lynch syndrome passed on to my children? After all, my children at the time were only 20 and 17 years old.

We received confirmation of my son's MSH6 mutation only after two brain surgeries, and chemotherapy failed.

So again I ask the question: Should genetics testing be at the very onset of treatment? I think so.

It is true that oncologists can determine the potential for miss-matched repair issues through molecular profiling of the tumor after surgery. But is surgery and chemo the only path forward? The majority of clinical trials are in setting of after standard of care has failed.

But what about quality of life? In 2022 Memorial Sloan Kettering had a breakthrough.

All 18 rectal cancer patients having MMRd (Miss-matched repair deficiency) in an investigational study saw a 100% response to treatment with immunotherapy alone. Luis Alberto Diaz, Jr., MD and Andrea Cercek, MD made headlines around the world after the results were published – a huge breakthrough.

A larger trial has now been completed with 103 patients. The patients all have MMRd cancers. The results: 80% of those patients only needed immunotherapy to resolve their cancer. The other 20% saw a significant improvement in their cancer.

The results of the studies performed by these doctors will have a tremendous positive effect for millions of people around the world like me. These doctors have proven that many of us can be treated before surgery. Before the damage from chemotherapy, surgery and radiation changes our lives forever.

Now I leave you to think.

How many people will receive a cancer diagnosis and be rushed into surgery? Or started on chemotherapy? Even zapped with radiation before their oncologist determines if they have Lynch syndrome or any of the other known cancer predisposition syndromes?

According to the National Cancer Institute it is currently estimated that 1 in every 280 Americans has Lynch syndrome or 1.1 million people.

Curiously, those numbers reflect only an estimate of the general population.

The 1/280 estimate may change drastically if standard of care were to incorporate genetic testing at the first discovery of cancer.

For families like mine, we know the value of simply knowing we have Lynch syndrome. Knowing you are at higher risk of certain cancers affords you the opportunity for surveillance while healthy.

Colonoscopies at an earlier age, periodic bloodwork, even preventative vaccines are becoming available. With these breakthroughs in treatment providing fact based evidence of the clear benefit of immunotherapy first approach should be making headlines everywhere. The data acquired during these important clinical trials before surgery, chemo and radiation support the idea of having a genetics test at diagnosis of cancer.

If you want to learn more about Lynch syndrome check out Alive And Kick'n. Being informed can make all the difference in a battle with cancer.

Read this previous Reckoning story on Lynch syndrome.