Remotely Delivered Cancer Genetic Testing in the Making Genetic Testing Accessible (MAGENTA) Trial

Abstract

ImportanceRequiring personalized genetic counseling may introduce barriers to cancer risk assessment, but it is unknown whether omitting counseling could increase distress.ObjectiveTo assess whether omitting pretest and/or posttest genetic counseling would increase distress during remote testing.Design, Setting, and ParticipantsMaking Genetic Testing Accessible (MAGENTA) was a 4-arm, randomized noninferiority trial testing the effects of individualized pretest and/or posttest genetic counseling on participant distress 3 and 12 months posttest. Participants were recruited via social and traditional media, and enrollment occurred between April 27, 2017, and September 29, 2020. Participants were women aged 30 years or older, English-speaking, US residents, and had access to the internet and a health care professional. Previous cancer genetic testing or counseling was exclusionary. In the family history cohort, participants had a personal or family history of breast or ovarian cancer. In the familial pathogenic variant (PV) cohort, participants reported 1 biological relative with a PV in an actionable cancer susceptibility gene. Data analysis was performed between December 13, 2020, and May 31, 2023.InterventionParticipants completed baseline questionnaires, watched an educational video, and were randomized to 1 of 4 arms: the control arm with pretest and/or posttest genetic counseling, or 1 of 3 study arms without pretest and posttest counseling. Genetic counseling was provided by phone appointments and testing was done using home-delivered saliva kits.Main Outcomes and MeasuresThe primary outcome was participant distress measured by the Impact of Event Scale 3 months after receiving the results. Secondary outcomes included completion of testing, anxiety, depression, and decisional regret.ResultsA total of 3839 women (median age, 44 years [range 22-91 years]), most of whom were non-Hispanic White and college educated, were randomized, 3125 in the family history and 714 in the familial PV cohorts. In the primary analysis in the family history cohort, all experimental arms were noninferior for distress at 3 months. There were no statistically significant differences in anxiety, depression, or decisional regret at 3 months. The highest completion rates were seen in the 2 arms without pretest counseling.Conclusions and RelevanceIn the MAGENTA clinical trial, omitting individualized pretest counseling for all participants and posttest counseling for those without PV during remote genetic testing was not inferior with regard to posttest distress, providing an alternative care model for genetic risk assessment.Trial RegistrationClinicalTrials.gov Identifier: NCT02993068

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

“…Two exceptions to this, with similar findings, are a US study, reported by Swisher et al, that reported noninferiority of patient distress at three months and no statistically significant differences in anxiety, depression, or decisional regret between participants who did not have mandatory pre-test counselling (received information in the format of a video) compared to those who had pre-test genetic counselling (20). This study was outside of mainstream settings, for participants recruited from the public with a personal or family history of breast or ovarian cancer.…”

Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial

“…This finding is not surprising given the tailored, expert communication and empathic exchanges that patients experience with CGCs. 25,40 However, only 1% of participants without PVs assigned to VE elected to meet with a CGC post-test despite ample opportunity to do so. Together with the fact that knowledge scores were not compromised in the VE arm, this low uptake of posttest GC may inform the prioritization of GC resources toward supporting patients and families with PVs.…”

“…Differences in our findings may be explained by study design as interventions were in person (not online) or by study population as our participants were markedly different from the MAGENTA population (males, all had cancer and were approximately 20 years older). 25,40 Results from a nonrandomized, patient choice study of patients with PC found no differences in uptake of GT, knowledge, or decision regret with GT between VE and GC, and when offered a choice, patients selected VE. 41 This study, together with our data, demonstrates that a truncated approach to GT for this population is reasonable, in particular, as the identification of germline PV has become increasingly important for estimating prognosis and for treatment selection in oncology care.…”

Breaking Barriers: Integrating Germline Testing With Oncology Care

“…Integrating point-of-care testing (defined as germline testing in the context of existing appointments with their medical or surgical oncology providers followed by post-test counseling with a genetics provider) into a similar workflow could allow genetics providers to focus their expertise where they may have the most impact. 14 In addition, potential germline pathogenic mutations are increasingly identified in the process of tumor-based sequencing and may require confirmatory germline testing and genetic counseling to assess patient risk. 15 Tumor-based sequencing is typically not designed to identify germline versus somatic origin of reported mutations.…”

“…Integrating point-of-care testing (defined as germline testing in the context of existing appointments with their medical or surgical oncology providers followed by post-test counseling with a genetics provider) into a similar workflow could allow genetics providers to focus their expertise where they may have the most impact. 14…”