How Has Genetic Testing Evolved Over the Past 30 Years?

Growing up, professor and researcher Marleah Dean Kruzel became familiar with breast cancer at an early age. Her mother was diagnosed with the disease when Dean Kruzel was 8 years old. 

Marleah Dean Kruzel became a Moffitt patient in 2014. Since then, she has continued to get preventive screenings for breast cancer. 

“I watched her undergo chemotherapy, surgery and radiation,” Dean Kruzel said. “Later on, she had a prophylactic mastectomy followed by reconstruction.” 

Now 37, preventive screening at Moffitt Cancer Center is a regular part of Dean Kruzel’s life. She undergoes a breast MRI every six months and a mammogram once a year. 

Genetic testing revealed that Dean Kruzel carries a BRCA gene mutation. As she explored her family history, she also discovered a long history of breast cancer among her relatives, extending beyond her mother’s diagnosis. 

Genetic testing is a common step that Moffitt genetic counselors, including Jennifer Brzosowicz, recommend for patients with a family history of cancer. 

“Part of the conversation is around a risk assessment and whether someone wants to proceed with genetic testing and also what tests they want, how much information they want,” Brzosowicz said. “Do they want a breast-focused test or a colon-focused test based on their personal or family history, or would they like to do a broader test?” 

The Evolution of Genetic Testing 

Brzosowicz began working as a genetic counselor at Moffitt in 2003. Since then, she has seen significant advances in genetic testing. 

“Up until about 2013, with genetic testing itself, we only tested for one indication or one gene at a time that may cause an increased risk, whereas what we do now is panel testing or grouping of genes where we do a whole set of genes instead of just one or two,” Brzosowicz said. 

Today, multigene panels allow clinicians to test multiple genes at once using a single blood or saliva sample.

Along with expanded testing options, genetic counseling has become more convenient. Patients can meet with their genetic counseling team through virtual appointments, and they may not need to travel to provide a sample. 

“They also do not need to come to Moffitt for their sample itself,” Brzosowicz said. “For example, a saliva test can be mailed to the patient at home if they would like.” 

Testing For a Healthier Future 

As Moffitt’s genetic counseling team celebrates its 30th anniversary, Dean Kruzel hopes sharing her experience with screening will encourage others to learn more about their own cancer risk. 

This year, Moffitt’s genetic counseling team celebrates 30 years of supporting patients and their families.

“I think genetic testing can really save lives,” she said. “It can empower people with information that can help them make informed decisions, whether they are screening regularly so that if cancer develops it can be detected early, or it can also inform people about the option to undergo prophylactic surgery to reduce their risk.”