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                                    Chapter 8270Table 5. continuedContributors to decreased reporting of genetic diagnoses RecommendationsType of HCP Provide education and information to understand importance of a genetic diagnosis for care, for physicians, psychologists, and caregiversImprove availability of, and access to, physicians with knowledge on genetic disorders and associated manifestationsClarify the role of coordinating physician for referring for (re-)evaluation of genetic diagnosis and inform other care providers Implement genetic etiology as standardized part of reporting in medical files and individual support plans in individuals with IDAge Explicitly include adults with ID in guidelines for genetic testingEnsure inclusion of genetic test results when transferring individuals with ID to other HCPs, for example in the transition from pediatric to adult care or from parental home to residential careEnsure access to all medical information by the coordinating local physician, especially when transitioning to adult careLevel of ID Improve awareness of the benefits of genetic testing in care providers of individuals with mild ID and/or limited somatic comorbidity, including guidelines for indications for genetic testing in individuals with for borderline intelligence, e.g., with suspect somatic, psychiatric or neurologic comorbidityLegal representativeIncrease awareness on care gap of absence of a family member as legal representative, and education for caregiversHCP, healthcare provider; ID, intellectual disability.Strengths and limitationsThis is the first study that elaborately investigated the integration of genetic diagnoses into multidisciplinary ID care in a large sample based on a sample size calculation. However, representativeness of the data may be affected by the consent procedure: bias might have occurred, since for individuals living within sheltered care facilities of the organization a standard questionnaire is included for providing consent. Selection bias with regard to symptoms, dysmorphisms, suspicion of syndromes, and comorbid features towards those who received genetic testing was not investigated. Moreover, negative genetic test results might not have been documented or (non-digital) information might be lost by switching care Annelieke Muller sHL.indd 270 14-11-2023 09:08
                                
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