2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Characterizing Research on the Diagnostic Odyssey in the United States: A Systematic Mapping Review

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This document is a summary of a systematic mapping review conducted to characterize existing research on the diagnostic odyssey in the United States (US) across all diseases and age groups. The study aimed to identify diagnostic odyssey definitions and measurement constructs and gather best practices for future research.<br /><br />The review followed the PRISMA guidelines and included articles from PubMed/MEDLINE® and CINAHL databases through June 2022. Inclusion criteria required studies to be original, peer-reviewed research focused on diagnosis, have a study population based in the US, and include more than 10 individuals.<br /><br />The study identified a total of 91 articles that met the inclusion criteria. The characteristics of these articles were analyzed, including their focus on genomic sequencing, genetic counseling, financial cost data, and pediatric population. The review also identified articles that defined the diagnostic odyssey, listed procedures involved, and provided measures for onset and endpoint of the diagnostic odyssey.<br /><br />The study highlights the need for consistent definitions and measure specifications when studying the diagnostic odyssey. It proposes a new set of operationalized measures to guide researchers in designing studies of the diagnostic odyssey for specific diseases and undiagnosed populations.<br /><br />The endpoint measure definitions for the diagnostic odyssey include factors such as patient-reported age at clinician diagnosis, confirmation by specialist physician or medical record review, understanding of the diagnosis by the patient or caregiver, genetic testing, ICD-10 diagnostic codes, medical record review, and patient age at etiologic diagnosis.<br /><br />The research was supported by the NCGENES 2 project funded by the National Human Genome Research Institute. The study identified a total of 845 articles, screened for title and abstract, reviewed full text, and included 91 original research articles for data extraction and analysis.<br /><br />Overall, this systematic mapping review underscores the importance of defining and measuring the diagnostic odyssey consistently to advance research in this area.

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Presenting Author - Hannah Margaret Clare, BA; Co-Author - Margaret Waltz, PhD; Co-Author - Jonathan S. Berg, MD PhD; Co-Author - Bradford C. Powell, MD, PhD, FACMG; Co-Author - Michael C. Adams, MD; Co-Author - Anna R. Kahkoska, MD PhD; Co-Author - Kristen Hassmiller Lich, PhD;

Meta Tag

Clinical History

Exome sequencing

Genetic Testing

Genome sequencing

Methodology

Natural History

NextGen Sequencing

Phenotype

Co-Author Margaret Waltz, PhD

Co-Author Jonathan S. Berg, MD PhD

Co-Author Bradford C. Powell, MD, PhD, FACMG

Co-Author Michael C. Adams, MD

Co-Author Anna R. Kahkoska, MD PhD

Co-Author Kristen Hassmiller Lich, PhD

Presenting Author Hannah Margaret Clare, BA

Keywords

systematic mapping review

diagnostic odyssey

United States

diseases

age groups

PRISMA guidelines

genomic sequencing

genetic counseling

pediatric population

undiagnosed populations