Skip to main content
Premium Trial:

Request an Annual Quote

UK Researchers Explore Digital Pathway for Facilitating Germline BRCA1/2 Testing

NEW YORK – A digital framework successfully delivered educational information and BRCA1/2 test results to breast cancer patients, according to a clinical study researchers presented at the European Society for Medical Oncology Congress on Sunday.

Compared to the standard phone-based genetic counseling, through which patients typically receive pretest information and learn their germline genetic test results, surveyed clinicians generally felt this alternative digital model was equivalent or superior in the BRCA-DIRECT clinical study sponsored by the Institute of Cancer Research in the UK.

About 1 in 400 individuals in the general population inherit pathogenic variants in BRCA1 and BRCA2 genes, which is associated with an increased risk of breast, ovarian, pancreatic, and prostate cancers. Individuals with pathogenic variants are eligible for frequent screening and preventive surgery to remove the breasts and ovaries to reduce their future cancer risk. Cancer patients may also receive PARP inhibitors that have been shown to work particularly well in individuals with pathogenic variants in BRCA1/2 and other homologous recombination repair genes. Knowledge of such variants is also important for a patient's relatives, so they, too, can get tested and learn about their cancer risks. 

"Unfortunately, in many places, testing is restricted to those who are at high risk of having a germline pathogenic variant" based on their personal and family cancer history, and in some instances, their ancestry, Bethany Torr, a professor of translational cancer genetics and lead investigator of the BRCA-DIRECT study, said in a presentation at ESMO.

She noted that in the UK, germline BRCA1/2 testing is restricted to less than 20 percent of breast cancer patients, half of whom are likely to have a germline pathogenic variant. But all patients eligible for germline testing don't receive it due to systemic inefficiencies.

Currently, before getting tested, patients consult with a surgeon or oncologist about the implications of the test and its results. After a blood sample is collected and testing is completed, the results are returned to the oncology team, who then pass them on to patients and refer them to a clinical geneticist. "The pathway is quite labor-intensive," Torr said, adding that clinical staff are the rate-limiting factor in expanding testing to more patients with breast cancer.

Her team hypothesized in the BRCA-DIRECT study that a streamlined, digital pathway would spur more patients to get tested. "What we aim to do is move the generic aspects of the pathway outside of the clinic," Torr said. "We do this through well-informed, standardized patient information, [in the form of] booklets or digital [media]."

Torr and colleagues also instituted saliva-based germline testing in their study, so that patients could provide samples at home and mail it in for analysis. They then returned the results in parallel to the patient, the oncology team, and clinical geneticists and set up a clinical genetics telephone helpline that patients could call into with questions. 

In the study, 1,140 patients were randomized to either receive pretest information by telephone genetic counseling, as is standard practice, or receive this information through the BRCA-DIRECT digital platform. The pretest education provides patients with information about genetics, cancer risk, genetic testing, the consequences and caveats associated with a positive and negative result, and insurance implications.

Researchers hoped to demonstrate that the digital framework was non-inferior to the standard pathway in terms of the number of patients who would ultimately get genetic testing. They also wanted to measure in the two arms what patients learned about BRCA1/2 genetic testing and their anxiety levels after the pretest education and receiving their results, as well as patient and provider satisfaction.

Torr said her team was "pleased" to see non-inferiority of the digital pathway in terms of uptake of genetic testing, patient knowledge, and patient anxiety. The digital pathway "may not be equivalent to standard of care, but it is still good enough for the patients going through the pathway in terms of our study outcomes," Torr said.

Less than 20 percent of patients called the hotline with additional questions, and, according to Torr, the majority of calls were "administrative in nature."

In the study, clinicians were also surveyed about their satisfaction with the different pathways. They were asked to score on a five-point scale, five indicating strong agreement, as to whether the different aspects of the digital pathway — saliva sampling, digital information delivery, return of results, patient compliance, turnaround time, and clinical monitoring of progress — were equivalent or superior to the standard pathway. The mean score among 19 surveyed clinicians was 4.45.

Torr concluded that her group had demonstrated non-inferiority of digital pretest information and showed that the pathway was acceptable to clinicians with a reduction in clinical time required to deliver care. "We did have some limitations about understanding why people disengage throughout the process, as well as the upfront barriers for people who face health inequalities in the UK," Torr said. She and her collaborators are now rolling out this digital framework into real-world trials.