The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration.

BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) surveillance is recommended for some individuals with a pathogenic or likely pathogenic variant (PV/LPV) in a PDAC susceptibility gene; the recommendation is often dependent on family history of PDAC. This study aimed to describe PDAC family history in individuals with PDAC who underwent genetic testing to determine the appropriateness of including a family history requirement in these recommendations. METHODS: Individuals with PDAC with a germline heterozygous PV/LPV in ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PALB2, or PMS2 (PV/LPV carriers) were assessed for family history of PDAC in first-degree relatives (FDRs) or second-degree relatives (SDRs) from nine institutions. A control group of individuals with PDAC without a germline PV/LPV was also assessed. RESULTS: The study included 196 PV/LPV carriers and 1184 controls. In the PV/LPV carriers, 25.5% had an affected FDR and/or SDR compared to 16.9% in the control group (p = .004). PV/LPV carriers were more likely to have an affected FDR compared to the controls (p = .003) but there was no statistical difference when assessing only affected SDRs (p = .344). CONCLUSIONS: Most PV/LPV carriers who developed PDAC did not have a close family history of PDAC and would not have met most current professional societies' recommendations for consideration of PDAC surveillance before diagnosis. However, PV/LPV carriers were significantly more likely to have a family history of PDAC, particularly an affected FDR. These findings support family history as a risk modifier in PV/LPV carriers, and highlight the need to identify other risk factors.

Painting a portrait: Analysis of national health survey data for cancer genetic counseling.

BACKGROUND: Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited. Research describing the epidemiology of cancer genetic counseling has mainly focused on isolated populations, a single gender (women) and a single condition (hereditary breast and ovarian cancer). Study findings to date are contradictory, making it unclear what, if any, disparities in receipt of cancer genetic counseling exist. METHODS: Utilizing the 2015 National Health Interview Survey (NHIS)-a cross-sectional, in person interview survey collecting self-reported health data for the US population-geographic and sociodemographic factors were compared between those receiving genetic counseling and the national sample. Bivariate analysis and subsequent multivariable logistic regression were performed with stratification by cancer status (affected/unaffected). Reason for (eg, doctor recommended) and focus of (eg, breast/ovarian) genetic counseling were also assessed. To generate nationally representative estimates, all analyses were adjusted for survey weights. RESULTS: An estimated 4.8 million individuals in the United States had cancer genetic counseling. On bivariate analysis, there were significant differences in proportions undergoing genetic counseling by sex, race/ethnicity, insurance, citizenship, education, age, and cancer status (P < 0.01). After adjustment, however, only female sex (Odds Ratio [OR]: 1.78 [95% CI: 1.18-2.67]) remained a significant predictor of genetic counseling among the affected. Among the unaffected, female sex (OR: 1.70 [1.30-2.21]), non-Hispanic black race (OR: 1.44 [1.02-2.05], reference: non-Hispanic white), graduate education (OR: 1.76 [1.03-2.98], reference: less than high school), and age (OR: 1.06 [1.01-1.11]) predicted higher rates of genetic counseling. An estimated 2.1 million individuals have undergone genetic counseling focused on breast/ovarian cancer, 1.3 million on colorectal cancer, and 1.4 million on "other" cancers. Of those receiving genetic counseling focused on breast/ovarian cancer, 3% were male and 97% female (breast cancer alone-4% male, 96% female); for colorectal cancer, 49% male and 51% female, and for "other" cancers, 60% male and 40% female. The majority of individuals receiving genetic counseling reported they did so because their doctor recommended it (66%), with smaller proportions describing self (12%), family (10%), or media (5%) influences as the primary reason. CONCLUSION: This is the first study to depict the sociodemographic and geographic distribution of cancer genetic counseling at the national level. Despite perceived disparities in access, cancer genetic counseling in the United States appears to be accessed by individuals of diverse racial/ethnic backgrounds, with various insurance coverage and educational levels, and across a broad range of ages and geographic regions. The only sociodemographic factor that independently predicted receipt of genetic counseling across both the affected and unaffected population was sex. With physician recommendation as the predominant driver for counseling, targeting physician education, and awareness is crucial to utilization.

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

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.

Patients who leave our emergency department without being seen: the Texas Children's Hospital experience.

OBJECTIVES: As the number of individuals seeking emergency care has increased during the last decade, the challenges facing emergency departments (EDs) have grown. These include overcrowding, increasing wait times, and an increasing number of patients who leave without being seen by a medical professional. We sought to describe the clinical characteristics of patients leaving the Texas Children's Hospital (TCH) ED without being seen during 1.5-year period as well as the predictors of further treatment received by these patients. METHODS: We prospectively conducted a simple random sample of patients who left the TCH ED without being seen to determine their demographic and clinical characteristics as well as their clinical outcomes. Frequencies and measures of central tendency were used to describe the study population. Univariate and multivariate analyses were conducted to determine the predictors of receiving treatment elsewhere after leaving the TCH ED. RESULTS: Almost all study patients identified a primary care provider (PCP), and the most patients who left sought care with their PCP within 8 hours. Almost half the patients arrived during the busy evening hours between 7 and 11 pm, and the median wait time before leaving was 3 hours. Almost half of the patients reported receiving treatment elsewhere, and 4% were admitted elsewhere. Those ill longer than 24 hours were almost 3 times as likely to receive treatment elsewhere. Almost all patients were clinically better by the time of telephone follow-up, and no patient had died. CONCLUSIONS: Our findings suggest that most patients who leave the ED without being seen have PCPs and seek care elsewhere after they leave. However, most patients are not sick enough to warrant admission elsewhere and probably could have waited to see their PCP rather than come to the ED.

Breast Cancer Risk Assessment Among Low-Income Women of Color in Primary Care: A Pilot Study.

PURPOSE: The US Preventive Services Task Force recommends identifying candidates for breast cancer (BC) chemoprevention and referring them for genetic counseling as part of routine care. Little is known about the feasibility of implementing these recommendations or how low-income women of color might respond to individualized risk assessment (IRA) performed by primary care providers (PCPs). METHODS: Women recruited from a federally qualified health center were given the option to discuss BC risk status with their PCP. Comprehensive IRA was performed using a software tool designed for the primary care environment combining three assessment instruments and providing risk-adapted recommendations for screening, prevention, and genetic referral. Logistic regression models assessed factors associated with wanting to learn and discuss BC risk with PCP. RESULTS: Of 237 participants, only 12.7% (n = 30) did not want to discuss IRA results with their PCP. Factors associated with lower odds of wanting to learn results included having private insurance and reporting ever having had a mammogram. Factors associated with higher odds of wanting to learn results included older age (50 to 69 years) and increased BC worry. For all women wishing to learn results, IRA was successfully completed and delivered to the PCP immediately before the encounter for incorporation into the well-visit evaluation. CONCLUSION: Incorporation of US Preventive Services Task Force recommendations as part of routine primary care is feasible. Interest in IRA seems high among underserved women. This approach warrants further investigation as a strategy for addressing disparities in BC mortality.