Knowledge is power

Jane Ramos was relieved when she heard the results of her mammogram. She had maintained relatively good health over the years but started to experience some breast pain in 2021. Thankfully her follow-up mammogram and ultrasound at Lowell General Hospital did not reveal breast cancer, but it was enough of a scare to convince Jane to take charge of her health and take a closer look at her circumstances and family history.

Over the years she’d seen several family members diagnosed with different types of cancer – cervical, colon, pancreatic, prostate, and even her mother, with breast cancer just a few years prior. Due to her mother’s cancer diagnosis, Jane was now considered “high risk” for breast cancer even though her annual mammograms had always come back negative.

She knew that family history plays a role in cancer and other health concerns and began to ask questions and learn more about the role of genetics in cancer and her overall health.

Evolving field

According to Mary Schmitt, Clinical Genetics Nurse Practitioner at Tufts Medicine Lowell General Hospital Cancer Center, the field of cancer genetics and testing has come a long way in a short amount of time.

“The growth in genetic testing technology is unprecedented,” she said. “We’ve gone from being able to test the sequence of two genes ten years ago, to being able to test up to 84 different genes today.”

“Knowing that there may be vulnerabilities in some of those genes gives us a whole new perspective and in recent years has led to placing a greater emphasis on early detection and prevention of many cancers.”

Over time, accessibility to genetic testing has also increased tremendously. Most insurance providers cover the cost of testing and it can be done quickly and inexpensively.

Is genetic testing for everyone?

Genetic testing provides the ability to look for inherited alterations in genes designed to protect against cancer. If an inherited gene alteration or mutation is found, special precautions and screenings may be in order. The test is usually performed from a simple blood draw.

Before blood is drawn for the test, an important genetic counseling session needs to occur. Mary warns that genetic testing may not be for everyone and the counseling appointment will help patients prepare for the impact of what the results could be as well as the potential impact on the patient and their family.

Knowing that your risk for developing cancer is higher because of your genetic makeup can make some people very anxious. Essentially, if it doesn’t give you peace of mind but leads to anxiety, then it may not be the right time for this type of testing.

“Receiving the results of genetic testing can be very emotional for some patients,” said Mary. “There are some people who are very proactive with their healthcare and want to know everything. It can be very empowering. But at the same time, there are people who aren’t quite ready for that type of knowledge, and the responsibility that comes with it.”

Moving forward

“With my family history, I thought it would be a good idea to get a full genetics panel done,” Jane said. “I met with Mary and we talked about the importance of being ready to understand what risks I might have, and what I could do with that knowledge.

Jane made the decision to run a full test of 84 different genes. Genetic testing does not reduce the risk of developing cancer but offers more insight in how decisions can be made moving forward. “The results won’t tell us that you will definitely develop or not develop cancer in the future,” said Mary. “But they may suggest that you have a greater than average chance of developing cancer and intensive screening and prevention options may be recommended.”

“I walked away from the genetic testing with some incredible knowledge about my risks and vulnerabilities,” said Jane. “There is a lot of empowerment that comes with this knowledge and I want to use that to make the best decisions I can about my health.”

Other steps

Taking a proactive approach after she had seen how cancer had affected her mother, Jane decided to begin a breast cancer prevention medication to decrease the chance of cancer developing. The treatment is available to women deemed high risk for developing breast cancer.

Additionally, Jane joined a national database, the PROMPT (Prospective Registry of MultiPlex Testing) registry. The PROMPT registry collects data from individuals and their families whose multigene panel test indicates that they carry an unusual alteration or variant in one or more genes and who have agreed to have their health status monitored.

By analyzing this information, doctors and researchers will be better able to study uncommon or rare gene variants. They will also be able to explore more effective ways to help these individuals and their families manage their risk for developing cancer.

“Participating in a study such as PROMPT will really help to advance the science,” said Jane. “My information may be useful to someone else and that is the beauty and the altruism of participating in clinical trials. It’s a great way to pay it forward.”

“Jane is a great patient, because she is so well informed,” said Mary. “Once we determined that she had some risk factors we talked about all of the things mentioned above. Taking control in this situation is very empowering for many women. Jane did her homework, she asked questions and she has been a great partner in this journey

Steps you can take

If you are concerned that you may be at high risk for developing breast cancer, there are several proactive steps you can take to make early detection and prevention your top priorities.

• Talk to your family members - Discussions with family members, especially about health, are not always easy. But these conversations can be critical in understanding your own health risks as well as those of other members of your family. Knowing that members have had cancer, heart disease, stroke, diabetes and other illnesses can give you knowledge about health choices.

• Talk to your health care team - Your physicians, nurses and other health professionals are part of your team. Not only is it important for you to share details of your health and health history with them, but it is equally as important for you to ask them questions. The conversations should always be two-way, and you should be able to work together to find the best plans for your health moving forward.

• Have a screening plan - If you are deemed at high risk for breast cancer, develop a plan with your doctor. Early detection can save lives. How often should you get screened? Is a 3D mammogram detailed enough? Do you need additional screening exams? Is genetic testing right for me?

• Preventive medication - If you are a high-risk patient, your provider may have you consider taking a preventive medication. These medications are taken in pill format.

• Join a clinical trial or study - The PROMPT study is a nationwide study between academic research institutions and commercial laboratories to better understand some of the risks associated with hereditary cancers.

• Maintain a healthy lifestyle - Eating well, exercising, limiting alcohol consumption, avoiding tobacco products are important for everyone’s health.

Cancer free

Jane remains cancer free and is actively keeping up with her screenings and monitoring her health. She feels empowered thanks to being armed with two important things, knowledge and a great care team.

“My team at the Women’s Wellness Center is more like a family to me,” said Jane. We’ve been through so much together. I call them my hospital family,” “I call them whenever I have questions and they respond immediately. I can’t imagine having gone through this process without them.”