Have you wondered how scientific research affects real lives? Look no further than the Human Genome Project for a shining example of how research leapt – relatively speaking – from research labs to patient clinics, like Yavapai Regional Medical Center’s (YRMC’s) Genetic Clinic in Prescott Valley.

In 2003, scientists from 20 research institutions in six countries, including the United States, announced they had completed the monumental achievement of sequencing the entire human genome.

How did this information make it into our everyday healthcare world?

Jody Pelusi, PhD, FNP, AOCP, Oncology Nurse Practitioner, who oversees cancer genetic testing at YRMC’s Genetic Clinic recalls, for example, that breast cancer genetic testing used to involve only two genetic mutations: BRCA1 and BRCA2.

“Now we know many genes exist,” said Dr. Pelusi. “Therefore, we do panel testing to look at anywhere from 30 to more than 100 genes.”

What can genetic testing at YRMC’s Genetic Clinic accomplish? The answer to that question depends on the patient’s individual needs. Genetic testing is typically pursued to:

  • Pinpoint actual risk for developing cancer from a hereditary mutation versus a perception of cancer risk.
  • Learn cancer risk based on personal or family risk factors for people found not to be at high risk for cancer based on genetic testing.
  • Determine the best treatment options, follow-up care and long-term monitoring for people diagnosed with cancer.

Learning Your Genetic Risk for Cancer

Before genetic testing happens – typically starting with a swab of salvia from the mouth – Dr. Pelusi meets with the individual to discuss his or her goals. Her approach is part scientist, part counselor and all supportive.

“We talk about genetic testing, the information they will potentially learn and if knowing that will make a difference in how they approach their healthcare,” explained Dr. Pelusi. “Some people may come from families who didn’t discuss illness or they may be adopted and have no knowledge of their genetic history. There are many different circumstances.”

During a first appointment, Dr. Pelusi introduces cancer genetic testing by:

  • Reviewing the goals of cancer genetic testing.
  • Discussing why the person is interested in genetic testing.
  • Developing a profile based on the family’s history of cancer, including the type of cancer and at what age the family member was diagnosed with cancer.
  • Outlining the pros and cons of genetic testing, including how test results can affect the people being tested as well as their family members.

“About 10 percent of people will actually be found to have a genetic change that puts them at higher risk for potentially developing a cancer,” Dr. Pelusi said. “However, this 10 percent is significant as this can be life changing. Some individuals will come in and get the information and want to think about it before they determine if they want to undergo testing or not; this is absolutely fine.”

Your Genetic Test Results

For people whose genetic test results show they’re at higher risk for cancer, Dr. Pelusi works with their clinicians to provide valuable information on healthcare and lifestyle options. This may include increased health monitoring and screenings, lifestyle changes, risk-reducing surgeries and chemoprevention (using drugs, vitamins or other agents to reduce cancer risk, delay its development or help prevent recurrence).

“These are emotional topics,” Dr. Pelusi said. “This is not a time to fear cancer. But we sure can fight it with our awareness, our knowledge and our actions. I make sure people have the information they need to make a decision they’re comfortable with. I listen and respect their approach. You can’t get that in a mail order test.”

To schedule an appointment at the Genetic Clinic for a genetic evaluation and possible testing, call (928) 442-8747.