Innovative study delivers genetic screening to your doorstep

When Elizabeth White started a new job as executive director of the Michigan Ovarian Cancer Alliance in 2017, she decided it was time to have her own risk assessed for developing that cancer.

Inspired to work against ovarian cancer following her mother's death from the disease in 2006, White knew that experts’ knowledge about genetic risk had deepened since then.

“Here I was working for ovarian cancer organizations for 10 years, lost my mom to the disease, and I hadn't taken the time to get tested,” White recalls.

On her second day on the job, she read about MAGENTA, the Making Genetic Testing Accessible study that’s designed to make it easier for women to learn their risk with an at-home screening for 19 genetic abnormalities.

“I remember thinking, ‘I should do this so I can know the process and encourage others to do it,’ so I went to the MAGENTA website and signed up,” White says. “I wasn't expecting my test to come back positive.”

She filled out an online questionnaire and consent form, received the screening kit and sent a saliva sample to a company called Color Inc. for DNA analysis. She soon learned she had the BRCA2 mutation, one of the main abnormalities that raise ovarian cancer risk.

“The whole process was so easy. I didn't have to leave the house or go to a series of medical appointments,” White says. “I’m forever grateful for gaining this knowledge, allowing me to take action.”

For the 33-year-old White, that action will be a preventive double mastectomy later this year and plans to have her ovaries removed before she turns 35.

“MAGENTA is a way for us to empower women to know whether their family history and genetic mutations put them at increased risk,” says Karen Lu, M.D., MAGENTA principal investigator and chair of Gynecologic Oncology and Reproductive Medicine at MD Anderson.

Family history and the presence of known cancer-promoting mutations are separate risk factors for developing ovarian or breast cancer.

When both factors are present, consideration of risk-reducing treatment is warranted.

“By providing genetic testing from your living room, we want to break down barriers to screening that we've known about for years,” Lu says.

Those obstacles include: 

• Health care providers fail to recommend it
• Lack of access to genetic screening and counseling in medically underserved areas
• Cost of screening
• Miscommunication within families — history and genetic screening outcomes not always shared.

Until now, genetic testing has involved a visit to a doctor's office and the drawing of blood for genetic analysis. MAGENTA provides participants with free access to both testing and counseling, and overcomes gaps in knowledge among family members.

“This is new and very exciting,” Lu says.

“We're taking something that used to be scary, expensive, high-tech and inaccessible, and putting it in the hands of women. This will change how we deliver genetic testing and counseling.”

The original version of MAGENTA was launched by Lu and her colleagues at MD Anderson in 2014. In April 2015, the project was adopted by Stand Up to Cancer — an organization started by entertainment and media leaders to support collaborative cancer research — and the national rollout was completed by late 2017.

Participants are randomly placed into groups that receive online educational information, telephone counseling or both, before screening and when test results are reported.

All women who are found to harbor one of the 19 risk-raising mutations will receive expert counseling over the phone.

The randomized aspect of the study will gauge the effectiveness of online education and counseling in both educating women and reducing the stress involved in cancer-risk screening.

As of this past April, more than 1,800 women had enrolled in the study, with participants joining from every state.

Read more about the MAGENTA trial.