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Purpose: To evaluate rates of familial disclosure of hereditary cancer syndrome information. Methods: A systematic review and meta-analysis was conducted in accordance with PRISMA guidelines (PROSPERO no.: CRD42020134276). Key electronic databases were searched to identify studies evaluating hereditary cancer syndrome cascade relative disclosure. Eligible studies were subjected to meta-analysis. Results: Thirty-four studies met inclusion criteria. Among 11,711 included relatives, 70% (95% CI 60 - 78%) were informed of their risk of carrying a cancer-associated pathogenic variant; of 2,875 relatives informed of their risk who were evaluated for uptake of cascade testing, 43% (95% CI 27 - 61%) completed testing. Rates of disclosure were higher among female vs male relatives (79% [95% CI 73% - 84%] vs 67% [95% CI 57% - 75%]) and first-degree vs second-degree relatives (83% [95% CI 77% - 88%] vs 58% [95% CI 45 – 69%]). Conclusion: Nearly one-third of at-risk relatives remain uninformed of their risk of carrying a cancer-associated pathogenic variant. Even among those informed, fewer than half subsequently complete genetic testing, representing a critical missed opportunity for precision cancer prevention. Innovation: Five studies evaluating interventions to improve disclosure rates were generally ineffective. Urgent work is needed to elucidate barriers to relative disclosure by probands to develop targeted interventions that can optimize proband-mediated cascade genetic testing rates.

Purpose: To highlight a case series of three pediatric patients who presented with acute ischemic stroke (AIS) in the setting of influenza illness. Methods: Retrospective chart review was performed. Results: Three patients of ages 23 months (patient 1), 2 years (patient 2), and 4 years (patient 3) presented with acute hemiparesis or focal status epilepticus. Two patients had trisomy 21 and trivial cardiac septal defects, and one was previously healthy. All patients tested positive for influenza within a week of symptoms. Neuroimaging showed AIS involving right deep grey matter and bilateral posterior cortex in patient 1, left parietal lobe in patient 2, and right parietotemporal and deep grey matter in patient 3. Vascular abnormalities were found and included moyamoya syndrome in two patients and focal arteriopathy in one patient. For secondary stroke prevention, patients 2 and 3 were started on clopidogrel initially and later transitioned to aspirin after the resolution of the acute influenza infection. Patient 1 was started on aspirin at diagnosis since he was not acutely ill. Conclusions: This case series highlights three pediatric patients with AIS with underlying arteriopathy in the setting of influenza infection. Pediatric AIS is a separate entity from adult stroke. There is limited understanding of its underlying pathophysiology. The most common risk factors described in literature for pediatric AIS are arteriopathy and cardiac disorders. Minor infection may be a significant risk factor in a child that is predisposed to vascular insult. There is some evidence in literature to suggest that vaccination against such illnesses may be protective for AIS.

The literature demonstrates that the quality of cancer family history (CFH) as currently collected in the outpatient setting is inadequate to assess disease risk. Prior to implementation of a web-based application for cancer family history collection, we aimed to review the quality of collected CFH in a gynecologic oncology outpatient clinic and determine contributing patient factors. Medical records were reviewed for 200 new patients presenting between 4/2019–7/2019. CFH was collected during the patient interview and evaluated for inclusion of eight elements based on standards set by the genetics community. Univariate and multivariable linear regression analyses were utilized to evaluate the effect of patient characteristics on the number of relatives included in the CFH. Among our cohort of 200 patients, CFH was documented for 185 patients (92.5%). On univariate analysis, patients with a family history of cancer and prior genetic testing had significantly greater median number of relatives included in the CFH. On multivariable analysis, patients with family members with cancer had significantly more relatives included. Our data are consistent with the literature, suggesting that the current collection methods may not adequately capture all measures of a high quality CFH. Patients reporting no family history of cancer and those without prior genetic testing were least likely to have CFH that included key quality elements and these patients might benefit from health information technology CFH collection tools.