Table 2:

Description of codes assigned to roles

Themes	Categories	Codes	Description
Clinical care	Clinical interaction & care	Consent	Obtain informed consent for UDN protocol and substudies
		Direct patient care	Accompany participants throughout the research visit, communicate recommendations and clinical test results to participants, including non-genetic findings
		Clinical genetics	Elicit family history, discuss genetic testing plan, return results, discuss management and treatment options
		Psychosocial counseling	Provide psychosocial counseling, elicit goals, provide anticipatory guidance, and facilitate decision-making
Clinical care	Participant management	Case management	Manage, coordinate, and/or communicate information related to specific participants or applicants, including participating in the development of the evaluation plan and overseeing participant progress in study
		Coordination	Facilitate, organize, schedule, and communicate study participation from the application to in-person evaluation
Collaboration	Communication	Network liaising	Activities and communications related to network-level work groups, committees, and meetings
		Outreach	Present to local and national groups to educate about UDN application, coordinating local grand rounds presentations, and participating in recruitment efforts
		Provider/ researcher communication	Communicate pertinent clinical or research information for expert consultation, to support transition of care, or to pursue a candidate diagnosis.
		Team communications	Communicate pertinent clinical or research information to a multidisciplinary team for application review, coordination of clinical evaluation, genomic or research results, and team projects
Collaboration	Leadership	Student professional development & mentorship	Formal and informal teaching and communications related to the professional education of trainees, particularly those pursuing advanced degrees (MS, MD, and PhD).
Collaboration	Participant Management	Data entry	Oversee and perform data entry into UDN database from application to follow-up
		Advocacy	Assist participants with accessing appropriate logistical, financial, and/or support resources and interact with participant advocates to optimize study experience
		Matchmaking and external data sharing	Manage external data sharing in public databases and matchmaking tools (e.g., UDN participant pages and GeneMatcher), involving synthesis of clinical and genomic information and evaluating potential matches
Collaboration	Team management	Personnel management	Hire and/or supervise site personnel (study coordinators, volunteers, research assistants/interns)
		Project management	Manage, coordinate, and/or communicate information related to site- or network-level functioning, including oversight of protocols, workflows, IRB compliance, and progress
Curation	Curation	Curation of research data	Assist in raw genomic data analysis, interpretation of -omics data, and participation in bioinformatic tool development
		Genetic testing management	Oversee genetic testing ordering, communication, analysis and reanalysis
		Medical record review	Interpret and summarize medical records from applicants and participants
Curation	Research	Research design, implementation, and dissemination	Develop and execute sub-studies, including grant writing, as well as disseminate research findings in manuscripts, presentations, and posters