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Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients' perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI = 8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read "almost nothing" about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.

Background: Approximately 5%-10% of all cancers and cardiovascular diseases have a significant genetic component. Of the 15 most frequent admission diagnoses for palliative care, at least one third have a significant genetic component which is testable, informative, and potentially life saving to the survivors. Once the patient has died, the chance to test or bank DNA for common inherited conditions such as breast cancer, colon cancer, cardiovascular disease, etc., is gone., Objective: To determine the frequency of genetic conditions for commonly seen palliative care conditions, the availability of testing or DNA banking for future testing, and how genetics assessment is helpful., Design: A case illustration and review of the currently published evidence., Results: Genetic testing fits the accepted model of family-centered palliative care, is ethical, and may lead to life-saving interventions. Risk assessment tools and helpful websites are available., Conclusions: While common genetic conditions should be recognized before end-of-life care, the palliative care health professional may be the only person to recognize the condition before death of the patient and loss of available DNA.

Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature. Different breakpoints within 15q, as well as different environmental factors, may underlie these varied presentations. Case Presentation: We discuss monochorionic‐diamniotic twins with a ~345 kb maternally inherited duplication in 15q26.3. The twins presented with discordant pathology—one twin with a single umbilical artery, selective intrauterine growth restriction, and multiple cardiac defects including aortic coarctation, aortic valve stenosis, and ventricular septal defect, whereas the other twin was unaffected. To our knowledge, this case represents the smallest reported duplication of distal 15q. Conclusion: The discordant phenotype seen in the twins is likely due to a complex interplay between genetic and environmental causes. The affected infant presented prenatally with growth restriction and a single umbilical artery rather than overgrowth, potentially due to a unique breakpoint within 15q. This, in turn, may have produced hemodynamic perturbations between the twins, leading to discordant cardiac disease. Our report thus highlights the importance of genetic and nongenetic mechanisms underlying discordant anomalies in monochorionic twins. [ABSTRACT FROM AUTHOR]