Genetic Testing for Breast, Ovarian Cancer Risk Safely Done at Home, Trial Shows

Genetic Testing for Breast, Ovarian Cancer Risk Safely Done at Home, Trial Shows

Genetic tests to assess the risk of breast and ovarian cancer can be performed remotely in the safety of the patients’ homes, according to data from an early Phase 1 trial.

The trial findings also showed that genetic counseling sessions performed before and after testing can be skipped entirely without causing additional distress to patients.

Data from the study was included in an oral presentation titled “Results from MAGENTA: A national randomized four-arm noninferiority trial evaluating pre- and post-test genetic counseling during online testing for breast and ovarian cancer genetic risk.” It was presented at the 2020 American Society of Clinical Oncology (ASCO) Virtual Scientific Program, held online May 29-31.

Certain types of hereditary breast and ovarian cancers may be avoided altogether if women with an increased genetic predisposition are promptly identified and treated before developing the disease.

However, genetic tests used to identify these patients are not easily accessible to everyone. As a result, many women who have a high genetic predisposition to develop these types of cancers end up not being tested.

MAGENTA (Making GENetic Testing Accessible) is an early Phase 1 trial (NCT02993068) that aims to improve the accessibility of genetic tests for women at risk of hereditary cancers, through the use of a remote genetic testing service.

The study seeks to determine if remote genetic tests to assess cancer risk are feasible, and if genetic counseling sessions held before and after testing can be skipped without causing additional distress and anxiety to patients.

Carried out by researchers who were part of a Stand Up To CancerDream Team” — a multidisciplinary group from different institutions working together to address critical problems in cancer  diagnosis — the trial is funded by the Ovarian Cancer Research Alliance and the National Ovarian Cancer Coalition.

The trial enrolled nearly 4,000 women from 50 clinical sites across the U.S. All of the women enrolled in the trial had a family history of breast or ovarian cancer, or a close relative who carried a genetic mutation associated with an increased risk for these types of cancers.

All participants completed a genetic test that assessed their risk of having cancer based on information from 19 genes known to increase a person’s susceptibility to the disease. Genetic tests, using a saliva kit test provided by Color Genomics, were performed at home by each of the women. The completed tests were returned by post mail to be analyzed.

The study participants were divided into four groups, depending on if and when they received genetic counseling. Those in the standard group had mandatory genetic counseling by phone before and after completing the test. Women in the remaining three groups either never received genetic counseling, or skipped the pre- or post-test session.

All of the women watched an educational video on genetic testing before completing their test, regardless of the group to which they were assigned. Likewise, all women who had a positive test result received genetic counseling through a phone appointment.

Data from a three-month survey follow-up, presented at the ASCO program, showed that the educational videos were effective and that skipping genetic counseling sessions did not cause additional distress or anxiety to study participants.

Additionally, the investigators found that women who skipped both genetic counseling sessions were more likely to follow through with testing, compared with those who had mandatory conventional genetic counseling. The test completion rates were 86.4% versus 60.0%.

Similar analyses of one- and two-year survey follow-ups are expected to follow soon.

“The results of this study demonstrate that using online and remote methods for preventative testing and genetic counseling can be an option to help break down barriers and expand the availability of preventative cancer care,” Karen Lu, MD, professor and chair of gynecologic oncology and reproductive medicine at the University of Texas MD Anderson Cancer Center, and principal investigator of the study, said in a press release.

“Better understanding your risk of ovarian cancer is one of the most important things a woman can do to empower herself against the disease,” said Audra Moran, president and CEO of the Ovarian Cancer Research Alliance. “We hope the results of this study will lead to easier access to potentially life-saving genetic testing for more people.”

A sense of empowerment was exactly what one of the women who participated in MAGENTA described upon learning that she carried a genetic mutation that put her at high risk of developing both breast and colorectal cancer.

“The whole process felt very empowering to me,” said Pamela, whose sister, Roni Scheller, died of ovarian cancer at age 59. “Knowing what my risks were and being able to direct my concerns into action removed the constant ‘maybes’ and ‘what ifs’ that I was feeling before the test.”

After discussing her options with her physician, Pamela decided to undergo surgery to have both her breasts and ovaries removed as a preventative measure. She also is having regular screening tests for colorectal cancer. Pamela’s sister Kyle, and cousin Dalin also enrolled in the MAGENTA trial; both tested negative.

Pamela added that MAGENTA provided her with all the tools necessary for the entire testing process. She said she feels more at peace now after knowing what her risks of having cancer truly were.

“This trial is an important validation that it’s possible to engage more patients in clinical trials using remote methods,” said Sung Poblete, PhD, CEO of Stand Up To Cancer. “It’s exciting to see how successful this trial was and how well the remote counseling methods were received by participants.”