BACKGROUND: Genetic evaluation and testing for hereditary breast and ovarian cancer (HBOC) remain suboptimal. The authors evaluated the feasibility of using a screening tool at a breast imaging center to increase HBOC assessment referrals. METHODS: A brief questionnaire based on the National Comprehensive Cancer Network HBOC genetic counseling referral guidelines was developed and added to the standard intake forms of patients undergoing mammography at a community breast imaging center from 2012 through 2015. Patients who met the criteria in the guidelines were referred for genetic counseling. RESULTS: A total of 34,851 patients were screened during the study period, and 1246 (4%) patients were found to be eligible for referral; 245 of these patients made a genetic counseling appointment, and 142 patients received genetic counseling. Forty patients (28%) had a personal history of breast cancer but were not previously tested. Following counseling, 105 patients were tested for BRCA1/2. Eight patients (8%) tested positive for a pathogenic mutation and nine (9%) had a variant of unknown significance. Although they tested negative, many patients met the criteria to add breast magnetic resonance imaging to their screening due to greater than 20% lifetime breast cancer risk based on their family cancer history. This study led to improved clinical risk management in 67% of the patients who underwent genetic counseling. CONCLUSIONS: This study shows that large-scale screening of patients for HBOC syndromes at time of breast imaging is practical and highly feasible. The screening tool identified women with actionable BRCA1/2 mutations and mutation-negative but high-risk women, leading to significant changes in their risk management; these women would otherwise have been missed.
Overview Understanding the etiology of cancer combines a multitude of factors including genetic, environmental, health, and lifestyle influences on the pathway to malignancy. While single‐gene inherited causes for cancer account for only 5–10% of cancer cases, identifying these individuals and their family members can provide insight into tumorigenesis, improvement in therapeutic outcomes, prevention of new primary cancers, and identifying family members that may carry the same germline mutation. The process of evaluating an individual's cancer history as well as his or her family history is key in ascertaining those at risk for hereditary cancer. Indeed, several professional organizations recognize the importance of systematic and proficient hereditary cancer assessment. The American Society of Clinical Oncology has attested to the importance of identifying and managing of individuals with inherited susceptibility to cancer as a key aspect to oncology care with specific attention to the following areas: germline implications of somatic mutation profiling, multigene panel testing for cancer susceptibility, quality assurance in genetic testing, education of oncology professionals, and access to cancer genetic services. 1 Genetic counseling is the process of helping individuals recognize and interpret the medical, psychological, and familial implications of the genetic contributions of disease. 2 Given the complicated nature of understanding genetic risks and implications for patient and family members, pretest genetic counseling aid in both accurate hereditary cancer assessment and facilitating patient understanding. The genetic counseling interaction includes information gathering, establishing or verifying diagnosis, risk assessment, information giving, and psychological support. 3 Given the established expertise required to assess hereditary cancer risks, genetic counseling is rapidly becoming a standard of care for patients. While not all institutions have access to genetic counseling services, the Commission on Cancer ( CoC ) suggests programs without immediate access to formal genetic counseling services identify resources for referral to patients needing assessment. 4
6548 Background: Hereditary breast cancer accounts for 5-10% of all cases, but only 20% of eligible women undergo NCCN guideline-concordant screening. We demonstrated previously that our simple genetic risk screening tool (GRST) and telegenetics improved adherence to genetic testing guidelines and increased high-risk cancer surveillance. Our objective was to identify women eligible for genetic testing using breast cancer screening clinics in underserved communities as entry points, reach them with our tailored program, and measure impact. Methods: This is a prospective study in women presenting for breast cancer screening at The Rose, which provides breast imaging to underserved patients in Houston, TX. Women who consented to participate filled out the GRST and provided socio-demographic information. Those at high risk for hereditary cancer after GRST scoring were provided with educational materials and sent a saliva-based genetic testing kit. When results included a pathogenic variant (PV) or variant of uncertain significance (VUS), individuals received telegenetic counseling and risk reduction resources. Others were notified of negative results by phone. The program included education for providers about importance of genetic testing. Socio-demographic characteristics were analyzed using descriptive statistics. All statistical tests were two-sided. Results: 501 women filled out the GRST. Median age was 52. Median annual salary was $45,000 (IQR 21-75K). 151 (36.3%) were uninsured. 252 (50.3%) identified as White, 230 (45.9%) as Hispanic/Latino, and 106 (21.2%) as Black/African American. 150 (33%) were eligible for genetic testing; 100 could be contacted. Of the 100, 41 declined testing, 40 were lost to follow-up, 19 agreed, and 15 (10% of those eligible) returned the kits. Results included 11 negative, 2 VUS, 1 PV (NF1). Among 41 who declined testing, reported reasons included not wanting to know the results or preference to follow-up with their primary care doctor in 11 (26.8%) each, not enough time or prior genetic testing in 6 (14.6%) each, no reason given by five, and perception that testing was unnecessary in two. Completion of genetic testing was not associated with insurance, salary, family history, or race/ethnicity (p > 0. 05). Conclusions: Our study was successful in identifying underserved women at high risk of hereditary cancer who have not previously undergone genetic testing using a simple screening tool. We reduced barriers to genetic testing by working with a trusted community organization and using remote testing and telegenetics. We did not find any factors associated with genetic testing completion, though results are limited by small sample size. Given the low proportion of patients who completed testing, the next project phase will focus on improving convenience for patients and exploring patient and program-related reasons for non-completion of testing and strategies to overcome these.
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