UMSN Professor Develops Program for Family Communication about Breast Cancer and Decisions about Genetic Testing

“Our goal is to help families have open communication, cope, and make better decisions when someone learns they are a carrier of a cancer gene mutation.”

Actress Angelina Jolie made headlines when she announced in the New York Times that she had genetic testing and is a carrier of a mutation of the BRCA1 gene. “Women who carry this mutation have a 50-80% chance of getting breast cancer compared to 12% for someone who doesn’t carry the mutation,” says University of Michigan School of Nursing (UMSN) Associate Professor Maria C. Katapodi, Ph.D., RN, FAAN. “These women are about five times more likely than other women to get breast cancer - it’s really a dramatic difference.” Dr. Katapodi is a Robert Wood Johnson Foundation Nurse Faculty Scholar who specializes in research on breast cancer prevention, genetic testing and family communication.

Dr. Katapodi encourages women who have a high risk of breast and ovarian cancer* to seek genetic counseling, so that mutation carriers can make informed choices about their healthcare before they are forced to make these decisions while facing a cancer diagnosis. Dr. Katapodi says, “The major driver of genetic testing for these genes is a cancer diagnosis, because the results may affect how you manage the current disease.”

However, Dr. Katapodi wants to encourage more people to get tested before they develop cancer. “It’s important to focus on people without cancer. Cancers caused by these genes may be more aggressive and affect younger people, so they take away more years of life.” 

“If you know you have a high chance of getting cancer," Dr. Katapodi continues, "You can consider issues like fertility and family planning, career, and life goals before you make a decision on treatment. You can really look at the big picture. You’re not just someone with a genetic mutation. You’re a person with feelings, a woman, a mother, you have aspirations for a career."

The BRCA1 and BRCA2 genes are passed down in families from one generation to the next. “That’s why a BRCA mutation can be found in many family members, even distant relatives,” says Dr. Katapodi. Communicating with family members about the gene and its risks can be very difficult. “It’s hard to call up someone you haven’t spoken to in years and say, ‘I have this mutation and you might too.’ And many people aren’t in contact with their distant relatives, which makes it even harder to pick up the phone and share that kind of news.”

That’s why Dr. Katapodi and her colleagues developed "The Family Gene Toolkit," a program dedicated to helping families have a meaningful discussion about these mutations and make informed decisions about genetic testing. The Family Gene Toolkit is an educational program that includes live Internet sessions with a genetic counselor and an oncology nurse. “The first session with the genetic counselor provides basic information about these genes and genetic testing. The second session focuses on helpful coping and encourages family members to work as a team, so that everyone gets the care they need,” says Dr. Katapodi. “We provide practical tips on how to open the family communication lines and how to deal with communication breakdowns.”

The program also includes follow-up phone calls to give participants the opportunity to ask questions about issues not addressed in the internet sessions. “We approach this as a shared health concern for all members of the family,” says Dr. Katapodi. “We hope to take away the burden from the mutation carrier-- the burden of disclosure and of explaining complex genetic information-- and to help relatives understand what it means for their own health. Even family members who don’t have mutation are affected by this. Cancer affects the whole family.”

According to the New York Times, Jolie decided to have a double mastectomy and plans on having her ovaries removed to further lower her risk for cancer. Dr. Katapodi says that every woman needs to consider her own circumstances. “Everybody is different, and you have to make the decisions that are right for you. If you have the resources, you may have more options for a desirable outcome. But women with fewer resources may not have the same options available. That’s why our program builds on family strengths to help bridge this gap,” says Dr. Katapodi.

She also emphasizes that another option to surgery is intensive surveillance, which generally means twice yearly visits to a health care provider with alternating mammograms and breast MRIs. “That’s a reasonable alternative for women that need more time to make life planning decisions.”

Jolie’s mother battled breast cancer before dying of ovarian cancer. After Jolie’s surgery her aunt died of breast cancer. Her aunt was also a mutation carrier but wasn’t tested until after her diagnosis. Dr. Katapodi cautions family members to look beyond the females in the family. “Men can be carriers of the gene too,” she says. “Colon, prostate, and pancreatic cancer are all part of cancers that go together with a BRCA mutation.”

Dr. Katapodi believes nurses have a strong role in supporting families dealing with the gene. “Nurses have been helping families cope with chronic illness since the beginning,” she says. “Advanced practice nurses, like nurse practitioners, can provide valuable help to these families because they have a constant presence in people’s lives. The program can’t replace a meeting with a genetic specialist but it can be a valuable resource for families that don’t have access to these services. That’s why we deliver the program over the internet.”

Cost of genetic testing and the amount covered by insurance companies varies greatly and can be more than $4,000. “The recent ruling of the Supreme Court that doesn’t allow companies to hold gene patents will likely change all this. Most likely genetic testing will be more affordable,” says Dr. Katapodi.

Dr. Katapodi and her research team are currently looking for 70 families to test out the "Family Gene Toolkit." “We want real families to give us feedback about the program. We want to learn from them if the information makes sense and how we can make it better. We want to help more families find helpful ways to cope with cancer risk and the mutation.”

Families interested in "The Family Gene Toolkit" are welcome to contact Dr. Katapodi at [email protected] or (734) 647-0178, or the Clinical Research Project Manager Kari Mendelsohn-Victor at [email protected] or (734) 615-4017.

Please note: The program does not replace a formal visit with a genetic specialist, and no genetic testing or medical advice is offered.  The Family Gene Toolkit provides information about the genetics of cancer and practical tips on improving coping and family communication.

• • Breast cancer younger than age 50
  • Breast cancer in both breasts
  • Both breast and ovarian cancer
  • Ovarian cancer
  • Cancer and are of Ashkenazi Jewish heritage

• • Breast cancer before age 50 in one relative
  • Two or more relatives of breast cancer at any age
  • Male breast cancer in the family
  • Ovarian cancer