Alejandro Mirazo: Managing Inherited Cancer Risk, Thanks to Genetic Testing

In 2021, Alejandro Mirazo received an invitation from the Mayo Clinic to participate in a clinical trial seeking to understand how an individual’s genetic information could impact health care delivery. Having had terrific experiences with medical care for himself and members of his family at the Mayo Clinic in Phoenix, Arizona, Alejandro was happy to join the study.

“I have a lot of confidence in Mayo Clinic. When they came to me and said, ‘Would you like to participate in a study to expand our knowledge about the relationship between genetic variations and cancer and other illnesses?’ I didn’t think twice. I said, ‘I want to help’,” Alejandro said.

Going into the Mayo Clinic Tapestry DNA Sequencing Research Study, Alejandro thought he would serve as a “data point” to help advance medical science, not that he would directly benefit from the results. So, in November 2021, he sent his samples for genetic sequencing.

Soon after, he received preliminary information that he carried a possible genetic variant tied to an inherited condition known as Lynch syndrome which dramatically increases an individual’s risk of many types of cancer, including colon cancer.

“I was advised by the study team to get a clinical confirmation of the diagnosis. We went through that in December,” Alejandro said. After confirming that he had Lynch syndrome, Alejandro was scheduled for a colonoscopy, which led to his diagnosis with early-stage colon cancer.

Following his diagnosis, Alejandro underwent a series of tests to prepare for colon surgery. His health care team wanted to make sure that his cancer had not spread beyond the colon. On March 2, 2022, Alejandro had a surgical resection.

“It took like four hours. So, I assume it was very complex and difficult, but at the end the surgery was very successful,” he said. “I left the hospital the next day, and I never felt any pain other than the first three or four days. I went back to work within five days.”

While his surgery was considered a success, to reduce the chances of a recurrence, Alejandro’s oncologist recommended chemotherapy. He completed the first of four cycles of chemo in May 2022.

“I’m feeling well compared to all the things that I could be feeling, other than a little bit of fatigue,” he said.
Alejandro is grateful to have participated in the study because it led to the detection of his cancer at an early stage, when the likelihood of successful treatment is better.

“I’m a very healthy person. I have a lot of energy. I would never have guessed. Even though I have regular checkups, I never had a colonoscopy. So, I’m happy to have participated in Tapestry,” he said.

Participation in the study has also brought into focus the inherited cancer risks within Alejandro’s family. He remembers his grandmother being diagnosed with colon cancer in her 70s. More recently, one of his sisters who is in her 40s was diagnosed with ovarian cancer. Alejandro had not thought about a family connection of cancer until that happened.

More members of his family are going through the process of testing right now. Two of his children have tested negative, which was a great relief for the family. His youngest son will be tested when he turns 18.

“I had never heard of Lynch syndrome. So, it was a bit scary in the beginning. Now that we understand, we’re better informed,” Alejandro said. “We’re glad that we can look for symptoms and that there’s a path forward. We will be tracking any possible recurrence or occurrence of new symptoms that come from Lynch syndrome.”

Alejandro’s personal experience has increased his belief in the importance of clinical research. He recognizes the lack of awareness of clinical research in the general population and particularly in racial and ethnic minorities.

“This is not common knowledge,” he said. “And in communities that have recently immigrated to the U.S., it is not going to be as easy to get that information.”

While the level of education can sometimes be a barrier to awareness, Alejandro said he has realized that many of his classmates from high school and college are not aware of genetic testing or clinical trials.

“We need to communicate this broadly, but then we have to work on making it accessible to everyone, for example, to communities of color, communities of low income, and those with limited health care,” Alejandro said.

His ardent request is for Congress to invest heavily in clinical research to improve public health.

“I believe that Congress has to be a big part of this, going forward,” he said.”