학술논문

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer
Document Type
article
Source
Journal of Clinical Oncology. 35(34)
Subject
Prevention
Breast Cancer
Clinical Research
Cancer
Genetics
Health Services
Behavioral and Social Science
Rare Diseases
Ovarian Cancer
Genetic Testing
Good Health and Well Being
Adult
Aged
Breast Neoplasms
Cross-Sectional Studies
Databases
Factual
Female
Genetic Predisposition to Disease
Humans
Middle Aged
Needs Assessment
Ovarian Neoplasms
Predictive Value of Tests
Prevalence
Quality of Health Care
Retrospective Studies
United States
Clinical Sciences
Oncology and Carcinogenesis
Oncology & Carcinogenesis
Language
Abstract
Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.