The 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States' declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU's agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space. ; N/A
Commentary ; The authors of the present Commentary are acting on behalf of ICPerMed. ; This commentary presents the vision of the International Consortium for Personalised Medicine (ICPerMed) on how personalised medicine (PM) will lead to the next generation of healthcare by 2030. This vision focuses on five perspectives: individual and public engagement, involvement of health professionals, implementation within healthcare systems, health-related data, and the development of sustainable economic models that allow improved therapy, diagnostic and preventive approaches as new healthcare concepts for the benefit of the public. We further identify four pillars representing transversal issues that are crucial for the successful implementation of PM in all perspectives. The implementation of PM will result in more efficient and equitable healthcare, access to modern healthcare methods, and improved control by individuals of their own health data, as well as economic development in the health sector. ; The Coordination and Support Action (CSA) ICPerMed Secretariat receives funding from the European Union's Horizon 2020 Research and Innovation Programme under grant agreement No 731366. It is coordinated by the DLR, Germany, with partners from France (French National Funding Agency, ANR), Italy (Italian Ministry of Health), and Spain (Institute of Health Carlos III, ISCIII). ; info:eu-repo/semantics/publishedVersion
This commentary presents the vision of the International Consortium for Personalised Medicine (ICPerMed) on how personalised medicine (PM) will lead to the next generation of healthcare by 2030. This vision focuses on five perspectives: individual and public engagement, involvement of health professionals, implementation within healthcare systems, health-related data, and the development of sustainable economic models that allow improved therapy, diagnostic and preventive approaches as new healthcare concepts for the benefit of the public. We further identify four pillars representing transversal issues that are crucial for the successful implementation of PM in all perspectives. The implementation of PM will result in more efficient and equitable healthcare, access to modern healthcare methods, and improved control by individuals of their own health data, as well as economic development in the health sector. ; Funding Agencies|European Unions Horizon 2020 Research and Innovation Programme [731366]
Astrid M. Vicente - INSA (chair of Vision Paper Writing Group), ; This document presents the vision of the International Consortium for Personalised Medicine (ICPerMed) on personalised medicine (PM) research and implementation by 2030. ICPerMed connects more than 40 European and international institutions that aim to: The notion that individuals can experience unique clinical manifestations for the same disease, as well as variable responses to treatment, has long been recognized by the medical community. There are many long-standing paradigmatic examples of the use of such knowledge in medicine, for example the testing of blood type before blood transfusions or the neonatal screening programs. However, the prolific technological advancements in biomarker detection over the last few decades, including not only genomics but also other "omics" and body imaging methods, have spurred the development of novel approaches to health and disease management that are specifically optimised for each individual. The term PM, and its subtle variations, such as precision medicine or stratified medicine, today generally describe an approach to medicine that integrates an individual's characteristics for early disease diagnosis, prognosis, optimal choice of treatment, accurate disease risk estimation, and targeted prevention. ; The Coordination and Support Action (CSA) ICPerMed Secretariat has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 731366 ; info:eu-repo/semantics/publishedVersion
<b><i>Background:</i></b> The genetic inter-individual variability of drug response can lead to therapeutic failure or adverse drug reactions (ADRs). The aims of this study were to assess the pharmacogenetic profile of a South Portuguese population according to established dosing guidelines for commonly prescribed drugs and to compare it with that of previously genotyped populations. <b><i>Methods:</i></b> A cross-sectional study was developed in the context of the Portuguese Component of the European Health Examination Survey (EHES). A total of 47 pharmacogenetically relevant variants in 23 different genes were genotyped in 208 participants. Allelic and genotypic frequencies were calculated, and the pharmacogenetic profile of the participants was defined. A comparative analysis was conducted through electronic database search. Pairwise<i> Fst</i> calculations were performed to assess the genetic distance between populations. <b><i>Results:</i></b> We found a significant small differentiation between the Portuguese regional populations regarding <i>CYP2C9 </i>rs1057910<i>, CYP2D6 </i>rs3892097<i>, MTHFR </i>rs1801133 and <i>F5 </i>rs6025. When consid-ering 4 HapMap populations, <i>ADH1B</i> rs2066702,<i> ADH1B</i> rs1229984,<i> NAT2</i> rs1799931 and <i>VKORC1</i> rs9923231 displayed a significant population differentiation. We found that 18.9% of the participants are intermediate or poor metabolizers for at least 3 drugs simultaneously and that 84.6% of the participants have at least one therapeutic failure or ADR risk allele for the considered drugs. <b><i>Conclusions:</i></b> There is a high prevalence of risk alleles associated with an altered drug metabolism regarding drugs largely used by the South Portuguese population. This knowledge contributes to the prediction of their clinical efficacy and/or toxicity, optimizing therapeutic response while improving cost-effectiveness.
International audience ; The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
International audience ; The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
International audience The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
International audience ; The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults. ; This study was funded by the European Parliament and managed by the European Union, DGSANCO, [Ref.: SANCO/2014/C2/035]. The Italian Ministry of Health projects "Osservatorio Italiano per il monitoraggio dei disturbi dello spettro autistico" (Fasc. 1S49) and 'I disturbi dello spettro autistico: attività previste dal decreto ministeriale del 30.12.2016′ (Fasc. 2S57) granted the contribution of the Italian data. ; Sí
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults-especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services. ; This study was funded by the European Parliament and managed by the European Union, DGSANTE [Ref.: SANCO/2014/C2/035]. The Italian Ministry of Health projects Osservatorio Italiano per il monitoraggio dei disturbi dello spettro autistico (Fasc. 1S49) and I disturbi dello spettro autistico: attività previste dal decreto ministeriale del 30.12.2016 (Fasc. 2S57) granted the contribution of the Italian data. ; info:eu-repo/semantics/publishedVersion
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults-especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services. ; This study was funded by the European Parliament and managed by the European Union, DGSANTE [Ref.: SANCO/2014/C2/035]. The Italian Ministry of Health projects Osservatorio Italiano per il monitoraggio ...
Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and postdiagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals. ; g This study was funded by the European Parliament and managed by the European Union, DGSANCO, [Ref.: SANCO/2014/ C2/035]. The Italian Ministry of Health projects 'Osservatorio Italiano per il monitoraggio dei disturbi dello spettro autistico' (Fasc. 1S49) and 'I disturbi dello spettro autistico: attività previste dal decreto ministeriale del 30.12.2016' (Fasc. 2S57) granted the contribution of the Italian data. ; info:eu-repo/semantics/publishedVersion
In: Micai , M , Ciaramella , A , Salvitti , T , Fulceri , F , Fatta , L M , Poustka , L , Diehm , R , Iskrov , G , Stefanov , R , Guillon , Q , Rogé , B , Staines , A , Sweeney , M R , Boilson , A M , Leósdóttir , T , Saemundsen , E , Moilanen , I , Ebeling , H , Yliherva , A , Gissler , M , Parviainen , T , Tani , P , Kawa , R , Vicente , A , Rasga , C , Budişteanu , M , Dale , I , Povey , C , Flores , N , Jenaro , C , Monroy , M L , Primo , P G , Charman , T , Cramer , S , Warberg , C K , Canal-Bedia , R , Posada , M , Scattoni , M L & Schendel , D 2022 , ' Intervention Services for Autistic Adults : An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences ' , Journal of Autism and Developmental Disorders , vol. 52 , no. 4 , pp. 1623-1639 . https://doi.org/10.1007/s10803-021-05038-0
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
