Session: Patient and family engagement in clinical research
Genetic Diagnoses for Adults with Intellectual Disability: Caregiver Perspectives
Saturday, October 14, 2023
9:00 AM – 10:15 AM ET
Location: Atlantic (Third Floor)
Many adults with intellectual disability (ID) lack a formal molecular diagnosis for their condition. Compared to pediatric patients, these adults frequently lack a comprehensive genetic evaluation to investigate the possible etiology of their ID. Recent research has shown a diagnostic yield of 45% among adults with unexplained ID who undergo genome or exome sequencing. We interviewed caregivers of adults with ID who received a genetic diagnosis via either genome or exome sequencing. The aim of these interviews was to explore perceptions of the utility and disutility of receiving a genetic diagnosis.
I will present themes of utility and disutility that may aid our understanding of the role of genome and exome sequencing for adults with intellectual disability from up to 10 caregivers (interviews currently ongoing). Of the five caregivers interviewed thus far, all of them expressed significant emotional benefit and three indicated finding community among other families with the same diagnosis was a benefit. All five cited little impact on the patient’s lifestyle, and three described little impact on the patient’s care plan. However, among those three, one did convey hope for future treatment options, and one indicated that they were able to have the patient evaluated for other health issues associated with the diagnosis. Thus, even in cases where clinical care was not altered by the new diagnosis, caregivers found utility in receiving this information. This work can inform the integration of genome and exome sequencing into ID care, and can help tailor clinical practice to families’ needs.
Kevin Glinton, MD, PhD – Department of Molecular and Human Genetics – Baylor College of Medicine; David Murdock, MD – Division of Medical Genetics – The University of Texas Health Science Center at Houston; Aniko Sabo, PhD – Human Genome Sequencing Center – Baylor College of Medicine; Page Trotter, MPH – Baylor College of Medicine; Carrie Ann Schmid, MD, FACMG, FAAP – Baylor College of Medicine