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Reporting of genetic diagnoses in multidisciplinary intellectual disability care2678might differ throughout countries and cultures. Since European countries such as the Netherlands have a high standard with regard to easy and paid access to medical care, the care gap may be expected to be even greater in other countries. Factors associated with availability of information on genetic etiology in files may indicate both a reporting and diagnostic care gap. Individuals with a higher age appeared to be less likely to have reported information on receiving genetic testing and diagnosis. Our results confirm previous findings that a genetic diagnosis is lacking in many adults,29,30 possibly including reasons such as less relevance to parents of affected adults in terms of recurrence risk. As the largest population comprises adults, of which the majority did not receive a genetic diagnosis, these might thus miss out on personalized care. Furthermore, individuals with mild ID appeared to be less likely to have reported information on genetic testing and diagnosis compared to those with moderate, severe or profound ID, possibly due to HCPs being less likely to consider genetic testing for mild ID. Those with mild ID might thus more frequently miss out on disorder-specific care and interventions, underlining the need of awareness and guidelines.Several barriers for the integration of genetic diagnoses into ID care may exist, including lack of parents for trio exome sequencing, financial issues, and lack of motivation by HCPs.31 Practical barriers mentioned by physicians in previous research include lack of capacity or unavailability of consent by caregivers, burden and distress, unacknowledging benefits and skepticism about clinical utility especially in adults, and a lack of training resulting in difficulty interpreting and explaining genetic test.17,28Recommendations and future directionsTo overcome barriers and contributors to care gaps to identify individuals with ID at risk for underdiagnosis and undertreatment of genetic disorders, recommendations are provided in Table 5. Care organizations should connect with regional clinical genetic centers to reduce the referral threshold and diagnostic delay, and for reanalysis of a VUSses in genes for Annelieke Muller sHL.indd 267 14-11-2023 09:07