Page 270 - Demo

Chapter 8268which functional tests are available. This may include episignatures which could provide conclusive findings for around 70 known ID syndromes as these have been considered highly sensitive, and specific DNA methylation biomarkers.32 Education for affected individuals, families, caregivers, (professional) legal representatives, and all types of HCPs on both the importance of genetic testing and the genetic diagnosis may increase awareness and empowerment, and improve quality of multidisciplinary personalized care.33–35 Adult care, which has usually been variable and fragmented, has greatly improved, advocating for holistic expert care worldwide. Pediatric guidelines should be extended to adults, since implications of a diagnosis are important for the adult population as well. Individuals with no or borderline ID could also have a genetic disorder, as many genetic syndromes show a great heterogeneity within the disorder, which also requires special attention in psychiatric care. An update on current diagnostic guidelines including genetic testing and counseling in psychiatry has been proposed.36Awareness on factors that contribute to a diagnostic care gap should be increased to prevent them from missing out on personalized treatments, management and screening.Furthermore, electronic care file systems should be improved for this patient population. Protocols should be established for harmonized coding of genetic diagnoses such as using OMIM and ORPHA code. Communication between HCPs should be facilitated by ICT systems, ensuring continuity, transferability and linkage to central relevant sites. Expertise centers for rare diseases should (inter)nationally assemble, like the European Reference Network (ERN-)ITHACA (https://ern-ithaca.eu/), as these disorders collectively affect many individuals worldwide. These networks contribute to disorder-specific knowledge, including natural course, updating information with regard to the disorder and treatment options, setting up registries, and guidelines, and implementing these in national and regional care networks. This should be performed together with affected individuals and representatives, to also ensure availability of other resources for specific disorders, such as (peer) support groups.28Annelieke Muller sHL.indd 268 14-11-2023 09:07