Table 5.
Recommendations to overcome barriers to care gaps for individuals with ID at risk of underdiagnosis
| Barriers | Recommendations | |
|---|---|---|
 |
Limited access to genetic testing | Develop, 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 care | ||
| Facilitate 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 identified | ||
| Increase transparency on insurance reimbursement of genetic testing if applicable | ||
| Develop accessible and comprehensible information on somatic and neuropsychiatric manifestations of genomic variants for all HCPs involved | ||
| Increase 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 diagnoses | ||
| Increase 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 harmonization | Establish protocols to harmonize coding and facilitation of ICT systems for communication between HCPs, also to ensure continuity of care |
| Contributors to decreased reporting of genetic diagnoses | Recommendations | |
|---|---|---|
 |
Type of HCP | Provide education and information to understand importance of a genetic diagnosis for care, for physicians, psychologists, and caregivers |
| Improve availability of, and access to, physicians with knowledge on genetic disorders and associated manifestations | ||
| Clarify 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 ID | ||
 |
Age | Explicitly include adults with ID in guidelines for genetic testing |
| Ensure 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 care | ||
| Ensure access to all medical information by the coordinating local physician, especially when transitioning to adult care | ||
 |
Level 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 comorbidity |
 |
Legal representative | Increase awareness on care gap of absence of a family member as legal representative, and education for caregivers |
Recommendations are provided by the authors to enable disorder-specific personalized care and empowerment with regard to diagnostics. HCP Healthcare provider, ID Intellectual disability