Bryan A. Sisk

This article focuses on challenges and best practice in relation to adolescent/young adult cancer (AYAC) communication research.1 The importance of AYAC communication research is recognised at a national level. In the USA, the National Institutes of Health has dedicated branch funding research on communication in cancer, and the Department of Defense has a specific interest in research on supportive care and quality of life for young people with cancer. In the UK, communication has been identified as a key research priority by the James Lind Alliance priority setting partnership for young people with cancer.2

Parents of children with rare and serious illnesses often have unmet information needs. Large language models (LLMs) can help parents seek medical information. However, few studies have observed parents' use of LLMs or how they would use it in conjunction with their patient portal. We provided parents of children with cancer or vascular anomalies (VAs) access to a secure Health Insurance Portability and Accountability Act (HIPAA)-compliant chatbot. We characterized how parents used the tool while accessing their child's patient portal and evaluated the chatbot responses. Parents participated in think-aloud sessions (n = 48). Parents accessed a HIPAA-compliant GPT 4 Endpoint and entered queries about their child's illness. We examined query length and chatbot response length, accuracy, and readability. We also conducted content analysis on parent queries. We analyzed 451 queries and 451 responses. Parents' queries ranged from 1 to 104 words. They entered primarily short well-formed questions or phrases/statements. Some entered single words or incomplete phrases. Content was related to diagnosis/etiology, treatment, symptoms/side effects, laboratory values, imaging results, clinician notes/documentation, and supportive resources, with some differences between VA and cancer contexts. Chatbot responses ranged from 9 to 883 words The mean accuracy rating was 4.9 ± 0.5 and the mean Flesch Reading Ease score was 28.4 ± 15.0 (college-graduate level). Parents' queries varied in length, complexity, and content, with some differences indicating unique information needs by disease context. Chatbot responses were accurate yet written at a reading level potentially challenging for some users. Future studies should consider these patterns and characteristics when designing health-related chatbot-based tools.

Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vasculopathy afflicting 1 in 5000 individuals, is the second-most-common inherited bleeding disorder worldwide. Despite this prevalence, comprehensive data on disease manifestations and complications remain limited. To address this gap, the U.S. Congress allocated funding leading to the Comprehensive HHT Outcomes Registry of the United States (CHORUS; NCT06259292), a prospective, 15-center longitudinal registry enrolling unselected patients with confirmed HHT. In this initial report, we describe findings from the first 600 participants, with a median (range) age of 53 (0-88) years and 60% female. Despite most participants developing typical HHT manifestations by age 13, the majority (63%) were not diagnosed until mid-to-late adulthood. Recurrent spontaneous epistaxis occurred in 95% of participants, chronic gastrointestinal bleeding in 30%, and heavy menstrual bleeding in 35% of post-menarche females, together resulting in moderate-to-severe mucosal bleeding in 76%. Iron deficiency and/or anemia were diagnosed in 68%, with 41% requiring intravenous iron and 25% requiring red cell transfusions. Serious complications of solid-organ arteriovenous malformations were frequent, including intracranial hemorrhage (3%), pulmonary hemorrhage (2%), venous thromboembolism (7%), arterial thromboembolism (11%), heart failure (7%), and pulmonary hypertension (7%). This data from CHORUS, the first national registry of its kind, provides reliable, real-world estimates of the incidence, prevalence and severity of numerous HHT manifestations and complications. HHT has a high burden of moderate-to-severe bleeding, anemia, thrombosis, and major neurologic and cardiopulmonary complications. There is a mean interval between first symptoms and diagnosis of over two decades, during which substantial serious, preventable HHT morbidity, including early intracranial hemorrhage, may occur.