Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

TL;DR

This study found that genetic diagnoses are often missing in intellectual disability care records, which can hinder personalized treatment and care.

Contribution

The study provides new insights into the underreporting of genetic diagnoses in multidisciplinary intellectual disability care settings.

Findings

Genetic diagnoses were reported in only 34% of the study sample, with 13% of the total sample having a recorded diagnosis.

Medical files reported genetic diagnoses more frequently (90%) compared to psychodiagnostic (39%) and professional caregivers’ files (75%).

Older age and mild ID were associated with less reported genetic information.

Abstract

Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary approach. The aim was to investigate the reporting of genetic diagnoses in multidisciplinary ID care and to identify associated clinical and demographic factors.

A retrospective chart review was performed on a randomly selected sample of individuals (n = 380) of a large ID care organization in the Netherlands. Data on genetic etiology, including genetic testing and diagnoses, and clinical and demographic characteristics were collected from files held by multidisciplinary team members.

Reports on genetic etiology were available in 40% of the study sample (n = 151), with a genetic diagnosis recorded in 34% (n = 51), which is 13% of the total sample. In those with reported genetic diagnoses, this was reported in 90% of medical, 39% of psychodiagnostic, and 75% of professional caregivers’ files. Older age, mild ID, and the legal representative not being a family member were associated with less reported information on genetic etiology.

This study revealed that genetic diagnoses were often not reported in ID care files. Recommendations were formulated to reduce delay in diagnosis, and enable personalized care for individuals with ID.

The online version contains supplementary material available at 10.1186/s13023-024-03323-6.

Figures