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

Annelieke R MüllerErik BootStijn B NotermansCarlo SchuengelLidewij HennemanMartina C CornelMieke M van HaelstMariëlle AldersClara D M van KarnebeekBas BijlFrits A WijburgAgnies M van Eeghen

Published in: Orphanet journal of rare diseases (2024)

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.

Keyphrases

healthcare
palliative care
intellectual disability
quality improvement
pain management
affordable care act
genome wide
copy number
gene expression
single cell
chronic pain
health insurance
adverse drug
drug induced