Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views

Abstract

The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration-specific phenotype information to parents via an interactive website. With input from 32 parents and 21 professionals, including medical doctors, cytogeneticists, health psychologists, and communication specialists, we used a three-round Delphi method to determine the type and amount of health-related information to be presented on this website. A pre-Delphi questionnaire identified key factors for reporting clinical information online, forming the basis for 13 Delphi statements. Consensus was reached for 12 statements. Participants agreed that clinically relevant features should always be reported given their health impact, while parents also emphasized the importance of issues affecting the child's or family's well-being. Feature prevalence was supported as a guide for the order of reported features. To limit information overload, participants agreed on a reporting threshold for certain features. Finally, parents will be able to tailor the amount and type of information they view, with all details remaining accessible for future reference. While focused on chromosome 6 aberrations, these findings can inform the online information needs of families and professionals dealing with other rare genetic disorders.