‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability
Abstract Background Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is compl...
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| Format: | Article |
| Language: | English |
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BMC
2025-04-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03673-9 |
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| author | Mirthe Jasmijn Klein Haneveld Chloé Aymée de Mortier Anne Hugon Martina Cornelia Cornel Charlotte Maria Wilhelmina Gaasterland Agnies Marguerite van Eeghen |
| author_facet | Mirthe Jasmijn Klein Haneveld Chloé Aymée de Mortier Anne Hugon Martina Cornelia Cornel Charlotte Maria Wilhelmina Gaasterland Agnies Marguerite van Eeghen |
| author_sort | Mirthe Jasmijn Klein Haneveld |
| collection | DOAJ |
| description | Abstract Background Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is complex, and the views of affected individuals and families often remain unknown. Methods Patient advocates of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) participated in focus groups in which their experiences with and perspectives on CPG use and development were discussed. Results Patient advocates considered CPGs relevant to address information and care needs and support advocacy efforts. Important characteristics included representation of heterogeneity within conditions, a holistic approach in which and how topics are addressed, user-friendly availability for individuals and families, and reliability of information. Guideline development and implementation were described as challenging, iterative processes in which effective partnership between clinicians, patient advocates, and other stakeholders is essential. Conclusions Understanding the perspectives of patient advocates is essential to develop CPGs that meet the life-long and complex care needs of individuals and families living with rare conditions. Identified challenges include balancing the urgency of information needs with thorough guideline development processes, as well as the integration and interpretation of different types of knowledge. |
| format | Article |
| id | doaj-art-32b0df72546f4415818a6527dfcd289a |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-32b0df72546f4415818a6527dfcd289a2025-08-20T03:06:58ZengBMCOrphanet Journal of Rare Diseases1750-11722025-04-0120111110.1186/s13023-025-03673-9‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disabilityMirthe Jasmijn Klein Haneveld0Chloé Aymée de Mortier1Anne Hugon2Martina Cornelia Cornel3Charlotte Maria Wilhelmina Gaasterland4Agnies Marguerite van Eeghen5Amsterdam UMC, University of Amsterdam, Emma Children’s HospitalKnowledge Institute of the Dutch Association of Medical SpecialistsEuropean Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University HospitalAmsterdam Reproduction and Development Research InstituteAmsterdam UMC, University of Amsterdam, Emma Children’s HospitalAmsterdam UMC, University of Amsterdam, Emma Children’s HospitalAbstract Background Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is complex, and the views of affected individuals and families often remain unknown. Methods Patient advocates of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) participated in focus groups in which their experiences with and perspectives on CPG use and development were discussed. Results Patient advocates considered CPGs relevant to address information and care needs and support advocacy efforts. Important characteristics included representation of heterogeneity within conditions, a holistic approach in which and how topics are addressed, user-friendly availability for individuals and families, and reliability of information. Guideline development and implementation were described as challenging, iterative processes in which effective partnership between clinicians, patient advocates, and other stakeholders is essential. Conclusions Understanding the perspectives of patient advocates is essential to develop CPGs that meet the life-long and complex care needs of individuals and families living with rare conditions. Identified challenges include balancing the urgency of information needs with thorough guideline development processes, as well as the integration and interpretation of different types of knowledge.https://doi.org/10.1186/s13023-025-03673-9Clinical practice guidelinesPatient partnershipGenetic disorderIntellectual disabilityCongenital malformationRare disease |
| spellingShingle | Mirthe Jasmijn Klein Haneveld Chloé Aymée de Mortier Anne Hugon Martina Cornelia Cornel Charlotte Maria Wilhelmina Gaasterland Agnies Marguerite van Eeghen ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability Orphanet Journal of Rare Diseases Clinical practice guidelines Patient partnership Genetic disorder Intellectual disability Congenital malformation Rare disease |
| title | ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability |
| title_full | ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability |
| title_fullStr | ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability |
| title_full_unstemmed | ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability |
| title_short | ‘We are the engine’: a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability |
| title_sort | we are the engine a focus group study on clinical practice guideline development with european patient advocates for rare congenital malformations and or intellectual disability |
| topic | Clinical practice guidelines Patient partnership Genetic disorder Intellectual disability Congenital malformation Rare disease |
| url | https://doi.org/10.1186/s13023-025-03673-9 |
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