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Reporting of genetic diagnoses in multidisciplinary intellectual disability care2698Future research is necessary to examine why knowledge of genetic testing has not been fully implemented, to further identify barriers to personalized care. For instance, as the natural course of (ultra)rare disorders is often unknown, health care providers may question whether a genetic diagnosis really results in better care at present.37 However, positive experiences in care and benefits for individuals should inspire all to enable and improve disorder-specific care. Table 5. Barriers and contributors to care gaps to identify individuals with ID at risk of underdiagnosis and undertreatment of genetic disorders. Recommendations are provided by the authors to enable disorder-specific personalized care and empowerment with regard to diagnostics.Barriers RecommendationsLimited access to genetic testingDevelop, update, and implement (international) protocols and guidelines for genetic testing (especially for adult ID)Stimulate close collaborations between (academic) clinical genetic centers and physicians involved in ID careFacilitate periodic consultations (live or virtual) with a clinical geneticist at the ID facility (e.g., for pre- and post-test counseling, and treatment options)Reduce practical barriers to testing (e.g., train HCPs for genetic diagnostics in regional care networks)Reduce (patient) burden of testing (e.g., using saliva samples (when suitable for the intended test) instead of blood samples)Implement protocol for periodic reanalysis of variants of uncertain significance and repeat genetic testing when no diagnosis was identifiedIncrease transparency on insurance reimbursement of genetic testing if applicableDevelop accessible and comprehensible information on somatic and neuropsychiatric manifestations of genomic variants for all HCPs involvedIncrease understanding of the importance of recurrence risks and prenatal diagnostics for affected individual or (healthy) family members; refer to clinical geneticist in case of unknown diagnosesIncrease awareness of the implications of possible negative attitudes towards genetic testing among affected individuals, carers and HCPs (e.g., perceived low yield, insurance problems, fear of stigmatization)Limited reporting; coding and harmonizationEstablish protocols to harmonize coding and facilitation of ICT systems for communication between HCPs, also to ensure continuity of careAnnelieke Muller sHL.indd 269 14-11-2023 09:07