Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Abstract

As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic counseling for this population is paramount. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in pediatric cancer predisposition met to establish surveillance guidelines for children with cancer predisposition. Identifying for whom, when, why, and how these cancer predisposition surveillance guidelines should be implemented is essential. Genetic counselors invited to this workshop provide a genetic counseling framework for oncology professionals in this article. Points of entry and recommendations regarding the provision and timing of the initial and subsequent genetic counseling sessions are addressed. The genetic counseling and testing processes are reviewed, and the psychologic impact related to surveillance is explored. Pediatric cancer genetics will continue to grow and evolve as a field, and genetic counseling services will be vital to ensure appropriate identification and management of at-risk children moving forward. Clin Cancer Res; 23(13); e91-e97. Ó2017 AACR.See all articles in the online-only CCR Pediatric Oncology Series.

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

“…This may change as data accrued from systematic surveillance become available. It should be recognized that the tumor surveillance in vHL is time-consuming and may incur substantial financial and psychosocial burdens (32), as discussed further in the genetic counseling article in this CCR Pediatric Oncology Series (33). However, these burdens may be diminished by experienced multidisciplinary teams through care coordination and enhanced education.…”

“I remember how I felt, but I don't remember the gene”: Families’ experiences of cancer‐related genetic testing in childhood

“…In the case of predictive testing, knowing a child's genetic diagnosis may precipitate important cancer surveillance processes, with the ultimate goal of improving medical outcomes for the child . As an example, for patients with a diagnosis of familial adenomatous polyposis, life‐long endoscopic screening is recommended from early adolescence .…”

“…In Li‐Fraumeni syndrome, there is evidence of parent acceptability of TP53 testing in childhood and increasing evidence of the clinical utility of initiating tumor surveillance from a young age . For children with cancer, genetic testing results may help to inform diagnosis, guide treatment (for example, minimizing radiation therapy if risk of secondary malignancies is high), and manage long‐term cancer risk . Cancer‐related genetic testing in childhood can also provide risk information to other family members, and initiate cascade screening for family members who have not had prior involvement with genetic services …”

Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions

“…Counseling of children and families who have or are thought to have leukemia-predisposing syndromes requires knowledge of the biology of these diseases and the unique social and ethical issues associated with genetic testing of children for cancer predisposition (75,76). Such expertise facilitates genetic testing by informing which tissue should be analyzed (e.g., peripheral blood vs. cultured skin fibroblasts) and the type of testing to be done (e.g., single gene, gene panel, comprehensive gene testing, targeted familial mutation testing, etc.).…”