A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Abstract

BackgroundGermline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing.MethodsWe designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of BRCA1/BRCA2/PALB2 (BRCA-testing), integrated into routine UK NHS breast cancer care. We piloted the pathway, as part of the larger BRCA-DIRECT study, in 130 unselected patients with breast cancer and gathered preliminary data from a randomised comparison of delivery of pretest information digitally (fully digital pathway) or via telephone consultation with a genetics professional (partially digital pathway).ResultsUptake of genetic testing was 98.4%, with good satisfaction reported for both the fully and partially digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met.ConclusionPilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes and operational economic analyses.Trial registration numberISRCTN87845055.

Moving breast cancer susceptibility gene testing into the mainstream

“…After a median turnaround time of 44 days, clinical management was altered for 24 women with pathogenic variants (77%); fifteen were referred for consideration of bilateral or contralateral prophylactic mastectomy, eighteen for consideration of risk‐reducing salpingo‐oophorectomy. The high acceptability and low decision regret reported by the participants echo reports by similar mainstreaming initiatives elsewhere of uptake by as many as 98% of people with breast cancer offered testing at the time of diagnosis 8 …”

Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer

“…As a result, approximately 97% of PV carriers remain unidentified . Newer strategies expanding the genetic testing landscape include (1) mainstreaming genetic testing at cancer diagnosis (available for OC and being piloted for BC) and (2) population genetic testing approaches. Population genetic testing is cost-effective in the Jewish population and the general population for the hereditary breast and ovarian cancer CSGs studied in this article .…”

Association of All-Cause and Cause-Specific Mortality Risks With Pyoderma Gangrenosum

“…11,15,25 It is not clear whether this is due to the immunologic abnormalities that accompany cancerous conditions. 26 However, it has been demonstrated that the tumor-mediated granulocyte colony-stimulating factors might disrupt neutrophil release, which could be associated with excess levels of neutrophils, inducing PG. 27 A recent study described that the cancerous myeloid clone and polymorphonuclear cells in neutrophilic dermatosis were observed to have a common clonal progenitor.…”

“…Although few studies directly reported cancer-associated mortality in PG, the current study aligned with studies that reported an association between them . It is not clear whether this is due to the immunologic abnormalities that accompany cancerous conditions . However, it has been demonstrated that the tumor-mediated granulocyte colony-stimulating factors might disrupt neutrophil release, which could be associated with excess levels of neutrophils, inducing PG .…”