Cancer Predisposition in Neonates and Infants: Recognition, Tumor Types, and Surveillance.

Pediatric cancer is rare, and malignancy during the neonatal period even rarer. However, several malignancies can present in infancy, most commonly in the form of solid tumors. Specific cancer types, bilateral or multifocal disease, associated congenital malformations, and/or cancers in close relatives may herald a diagnosis of an underlying cancer predisposition syndrome. For many patients, surveillance protocols are recommended beginning at birth or during the course of maternal prenatal care. Advantages and disadvantages of genetic testing and surveillance should be discussed with families using a multidisciplinary approach, with input from a genetic counselor with expertise in pediatric cancer predisposition.

Feasibility and Efficacy of Same-Day, In-Office Genetic Testing for Inherited Retinal Diseases.

Purpose: This article analyzes 2 practice patterns our institution uses for genetic testing of patients with inherited retinal diseases (IRDs) and compares testing completion and diagnostic yield rates. Methods: A retrospective, consecutive chart review series was conducted of patients with a clinically diagnosed rod-mediated IRD. All IRDs were diagnosed between 2 intervals: November 1, 2015, through November 30, 2016 (referral to a medical genetics clinic for testing) or December 1, 2016, through December 30, 2017 (same-day, in-office genetic testing). Results: A total of 189 patients were included in the study. Of patients who received an out-of-office referral for genetic testing, 10 of 84 (12%) patients proceeded with testing, whereas 74 of 84 (88%) patients did not complete testing. For patients who received in-office genetic testing, 104 of 105 (99%) completed testing. The difference in test completion was statistically significant (P < .001). In addition, genetic testing for out-of-office referrals identified a causative mutation in 5 of 10 (50%) patients, whereas in-office genetic testing identified a causative mutation in 42 of 104 (40.4%) patients. The difference in causative mutation discovery was not statistically significant (P = .18) between the 2 groups. Conclusions: In-office genetic testing is a novel practice pattern that provides a more consistent and accessible method for IRD genetic diagnosis. Compared with an out-of-office referral for genetic testing, in-office genetic testing offers a similar rate of causative gene mutation identification but a greatly higher rate of test completion, therefore potentially offering a much higher yield for genetic diagnosis of IRDs.