Abstract
Healthcare utilization among individuals diagnosed with hereditary breast-ovarian cancer syndrome through a universal germline genetic testing program.
Author
person
Stacy W. Gray
City of Hope Comprehensive Cancer Center, Duarte, CA
info_outline
Stacy W. Gray, Heather Hampel, Ilana Solomon, Michael Garcia, Marilan Luong, Sarah Labib, Joseph D. Bonner, Lawrence Shaktah, Christine Hong, Gregory Idos, Sidney S. Lindsey, Kevin McDonnell, Wai Park, Katherine G. Roth, Elise Sobotka, Yi Xiao, Elyssa Zukin, Stanley R. Hamilton, Stephen B. Gruber
Full text
Authors
person
Stacy W. Gray
City of Hope Comprehensive Cancer Center, Duarte, CA
info_outline
Stacy W. Gray, Heather Hampel, Ilana Solomon, Michael Garcia, Marilan Luong, Sarah Labib, Joseph D. Bonner, Lawrence Shaktah, Christine Hong, Gregory Idos, Sidney S. Lindsey, Kevin McDonnell, Wai Park, Katherine G. Roth, Elise Sobotka, Yi Xiao, Elyssa Zukin, Stanley R. Hamilton, Stephen B. Gruber
Organizations
City of Hope Comprehensive Cancer Center, Duarte, CA, City of Hope National Medical Center, Duarte, CA, City of Hope, Duarte, CA, City of Hope National Comprehensive Cancer Center, Duarte, CA
Abstract Disclosures
Research Funding
No funding received
None.
Background:
Most individuals with Hereditary Breast-Ovarian Cancer Syndrome (HBOC) are unaware of their risk. Criteria-based testing will not close this gap as it fails to identify ~50% of mutation carriers. Universal germline testing (GT) in oncology stands to identify more mutation carriers and advance cancer control. However, the clinical utility of universal germline testing is unknown.
Methods:
The City of Hope INSPIRE study offers all consented patients GT for cancer susceptibility (155 genes) and actionable disorders (59 genes). We used an informatics approach to evaluate healthcare utilization for patients found to have
BRCA1
/
BRCA2
mutations. We queried codified data in our electronic data warehouse before and after GT (post testing interval: 1-29 months). We binned care as possibly related/ not related to HBOC based on NCCN guidelines.
Results:
Of 10,814 patients who had GT, 217 (2%) had a pathogenic/ likely pathogenic mutation in either
BRCA1
or
BRCA
2
. The demographic distribution of mutation carriers was: white (n = 162, 75%), Asian (n = 28, 13%), Hispanic (n = 65, 30%); female (n = 184, 85%); the mean age was 54 yrs. Eighty-four percent (n = 182) had cancer, including 64% with cancers associated with HBOC (breast 40%, ovarian 13%, pancreatic 3%, 5% prostate, and 0.5% melanoma) and 18% with cancers that are not associated with HBOC. Eighty-three percent of patients had procedures, imaging, and/or therapy potentially related to the
BRCA
mutation. Eighty-six percent of cancer patients had potentially related care. As expected, use of breast MRI, mammography, MRCP, mastectomy, and bilateral salpingo-oophorectomy (BSO) occurred both before and after testing, with most utilization occurring prior to GT and likely related to cancer staging and treatment. The exception was MRCP which occurred more often following GT (0.6% before vs 1.2% after). Fifty-one (28%) cancer patients received PARP inhibitors. In the unaffected cohort, 67% of patients received possibly related care. Use of mammography was higher prior to GT (7% vs 2%). Consistent with the fact that some unaffected patients were likely known mutation carriers prior to consent, mastectomy was higher prior to GT (5% vs 0%) and BSO was equivalent before and after GT (1.8%). Use of breast MRI (9% vs 15%), MRCP (1.8% vs 3%) and transvaginal US (5% vs 7%) were all higher after GT.
Conclusions:
We found high levels of relevant healthcare utilization for
BRCA
mutation carriers in the context of universal GT. However, this initial informatics approach is limited because key information on prior GT and motivations for surgery (e.g., therapeutic vs prophylactic mastectomy) are not adequately captured in codified data. Codified EHR queries will need to be augmented by text mining and/or manual chart review to fully capture care and assess the clinical utility of system-wide genetic care delivery interventions.
3 organizations
1 drug
2 targets
Organization
City of Hope Comprehensive Cancer CenterOrganization
City of Hope National Medical CenterDrug
PARP inhibitorsTarget
BRCA1Target
BRCA2