ASPHO Webinars Connect Learners to the Latest in Pediatric Hematology/Oncology Clinical Treatment, Best Practices, and Professional Development

As next generation genetic sequencing of pediatric hematology and oncology patients has expanded, we have seen an increase in germline variants that aid in diagnosis and treatment. On the other hand, due to limited information surrounding variants, especially those affecting newly identified disease genes, clinicians are bombarded by a number of variants of uncertain significance (VUS). As we have come to appreciate the phenotypic variation of many genetic conditions, the interpretation of germline VUS presents a challenge. Lack of access to genetic services creates additional barriers in the interpretation of genetic results. Pediatric hematology-oncology physicians must know how to consider a VUS when managing patients. They must develop a foundation of knowledge regarding tools that can be utilized when considering whether a VUS is potentially an actionable variant. A webinar focused on best practices with examples of how to use public gene variation and disease-specific databases, in-silico predictive tools, and literature, in evaluating germline VUS is vital. The ability to answer questions such as allele frequency, the location of the VUS relative to splice junctions and function of the encoded protein, whether or not the involved amino acid is conserved, are first steps to understanding the meaning of a VUS.

Learning Objectives:

• Discuss specific examples of how germline variants of uncertain significance (VUS) are of potential importance in diagnosis and management of pediatric hematology / oncology patients
• Discuss practical approaches and resources that can be leveraged in the interpretation of VUS (e.g., familial segregation, location of VUS, potential functional impact of VUS)
• Case-based (e.g., inherited bone marrow failure, myelodysplasia, cancer) discussion providing practical examples of available resources that can be leveraged in the interpretation of VUS

For many children with advanced cancer and their families, hope is tenacious and inextricably linked to coping and resilience. Parents describe hope as "life-sustaining," persisting across the illness course, even at end of life. Unfortunately, many clinicians misinterpret hope as refusal to accept reality (e.g., "that family is in denial") or worry about enabling false hope. Clinicians also avoid disclosing big picture information about incurable disease in the setting of smaller uncertainties (e.g., "I don't know for sure, so I don't want to take away their hope"). In this session, we will review data demonstrating that transparent disclosure of poor prognosis does not diminish hope. We also will present findings from the "Hear Our Parent Experiences (HOPE)" forum, through which bereaved parents reconceptualized the meaning of hope in the setting of advanced or incurable disease. Whether wishing for a cure, a return to normalcy, or mitigation of suffering, parents unanimously emphasized hope as indispensable and coexisting simultaneously with prognostic awareness. We will present the HOPE forum's 12 recommendations to guide clinicians. Finally, we will introduce recent evidence-based communication strategies to support person-centered, honest, longitudinal sharing of prognostic information in the context of advancing pediatric cancer.          

Learning Objectives:

• Review the existing literature, anchored in the voices of patients with advanced cancer, families, and bereaved parents, which characterizes the tenacity and necessity of hope across the illness course.
• Describe a novel conceptual model co-designed by bereaved parents of children with cancer to reimagine the meaning and purpose of hope in the setting of incurable illness.
• Explain bereaved parents' recommendations to guide clinicians in navigating difficult conversations about advancing illness when parents continue to maintain hope.
• Consider and practice evidence-based communication strategies, including a "seed planting approach" to longitudinal prognostic disclosure, to support person-centered, honest sharing of information about prognosis in the context of advancing pediatric cancer.