Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

Download Full-text

Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00176-z ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Lucie G. Hallenstein ◽

Carol Sorensen ◽

Lorraine Hodgson ◽

Shelly Wen ◽

Justin Westhuyzen ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Cancer Genetics ◽

Eligibility Criteria ◽

Pathogenic Variants ◽

Genetics Services ◽

Age Of Diagnosis ◽

Over Time

Abstract Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

Download Full-text

Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects

Familial Cancer ◽

10.1007/s10689-007-9127-y ◽

2007 ◽

Vol 6 (2) ◽

pp. 171-180 ◽

Cited By ~ 18

Author(s):

Catherine Bennett ◽

Hilary Burton ◽

Peter Farndon

Keyword(s):

Cancer Genetics ◽

Pilot Projects ◽

Genetics Services

Download Full-text

Cancer Genetics Services in Northern Ireland

Disease Markers ◽

10.1155/1999/161754 ◽

1999 ◽

Vol 15 (1-3) ◽

pp. 37-40 ◽

Cited By ~ 1

Author(s):

P. J. Morrison ◽

N. C. Nevin

Keyword(s):

Northern Ireland ◽

Cancer Genetics ◽

Genetics Services

Download Full-text

The role of patient users in cancer genetics services in primary care

Familial Cancer ◽

10.1007/s10689-007-9126-z ◽

2007 ◽

Vol 6 (2) ◽

pp. 241-248 ◽

Cited By ~ 3

Author(s):

Melanie Ripley ◽

Deborah Sullivan ◽

Jo Evans

Keyword(s):

Primary Care ◽

Cancer Genetics ◽

Genetics Services

Download Full-text

Prospective analysis of 895 patients on a UK Genomics Review Board

ESMO Open ◽

10.1136/esmoopen-2018-000469 ◽

2019 ◽

Vol 4 (2) ◽

pp. e000469 ◽

Cited By ~ 8

Author(s):

David Allan Moore ◽

Marina Kushnir ◽

Gabriel Mak ◽

Helen Winter ◽

Teresa Curiel ◽

...

Keyword(s):

Clinical Trial ◽

Clinical Trials ◽

Cancer Genetics ◽

Routine Practice ◽

Prospective Data ◽

Expert Review ◽

Molecular Oncology ◽

Oncology Clinical Trials ◽

Uncertain Significance ◽

Generation Sequencing

BackgroundThe increasing frequency and complexity of cancer genomic profiling represents a challenge for the oncology community. Results from next-generation sequencing–based clinical tests require expert review to determine their clinical relevance and to ensure patients are stratified appropriately to established therapies or clinical trials.MethodsThe Sarah Cannon Research Institute UK/UCL Genomics Review Board (GRB) was established in 2014 and represents a multidisciplinary team with expertise in molecular oncology, clinical trials, clinical cancer genetics and molecular pathology. Prospective data from this board were collated.ResultsTo date, 895 patients have been reviewed by the GRB, of whom 180 (20%) were referred for clinical trial screening and 62 (7%) received trial therapy. For a further 106, a clinical trial recommendation was given.ConclusionsNumerous challenges are faced in implementing a GRB, including the identification of potential germline variants, the interpretation of variants of uncertain significance and consideration of the technical limitations of pathology material when interpreting results. These challenges are likely to be encountered with increasing frequency in routine practice. This GRB experience provides a model for the multidisciplinary review of molecular profiling data and for the linking of molecular analysis to clinical trial networks.

Download Full-text