An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole genome sequencing (WES, WGS) has enlarged the dia...

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Autores principales:	Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Clinical pathway Rare diseases Diagnostic odyssey Evidence-based medicine Case management Medicine R
Acceso en línea:	https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
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spelling	oai:doaj.org-article:87d0b039802740118b8a8dc67a58c0942021-11-14T12:25:06ZAn Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee10.1186/s13023-021-02092-w1750-1172https://doaj.org/article/87d0b039802740118b8a8dc67a58c0942021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02092-whttps://doaj.org/toc/1750-1172Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole genome sequencing (WES, WGS) has enlarged the diagnostic toolkit but also increased the complexity of the endeavour. Structured multidisciplinary clinical pathways (CPW) can guide diagnosis, treatment, and care of patients with rare diseases, link scientific evidence to clinical practice and optimise clinical outcomes whilst maximising clinical efficiency. Results In contrast to the common approach of appending disease-specific CPWs to disease-specific guidelines, we suggest a generic CPW manoeuvring the patient along the way of finding the correct diagnosis by applying the best diagnostic strategy into an appropriate system of treatment and care. Available guidelines can be integrated into the generic CPW in the course of its application. The approach also applies to situations where a diagnosis remains unsolved. The backbone of the generic CPW is a set of multidisciplinary structured case conferences projecting and evaluating diagnostic and/or therapeutic steps, enforcing to integrate best scientific evidence with clinical experience. The generic CPW is stated as a flowchart and a checklist which can be used to record and document parsimoniously the structure, process and results of a patient’s pathway, but also as a data model for research. It was applied in a multicentre setting with 587 cases each with a presumptive diagnosis of a rare disease. In 369 cases (62.8%) a diagnosis could be confirmed, and multidisciplinary treatment and/or care was initiated. The median process time from first contact until confirmation of diagnosis by WES was 109 days and much shorter than diagnostic delays reported in the literature. Application of the CPW is illustrated by two case reports. Conclusions Our model is a tool to change the diagnostic odyssey into an organised and trackable route. It can also be used to inform patients and families about the stages of their individual route, to update health care providers only partially involved or attending specialised treatment and care, like the patient’s or family’s primary physician, and finally to train novices in the field.Daniela ChoukairFabian HauckMarkus BettendorfHeiko KrudeChristoph KleinTobias BäumerReinhard BernerMin Ae Lee-KirschCorinna GrasemannPeter BurgardGeorg F. HoffmannBMCarticleClinical pathwayRare diseasesDiagnostic odysseyEvidence-based medicineCase managementMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Clinical pathway Rare diseases Diagnostic odyssey Evidence-based medicine Case management Medicine R
spellingShingle	Clinical pathway Rare diseases Diagnostic odyssey Evidence-based medicine Case management Medicine R Daniela Choukair Fabian Hauck Markus Bettendorf Heiko Krude Christoph Klein Tobias Bäumer Reinhard Berner Min Ae Lee-Kirsch Corinna Grasemann Peter Burgard Georg F. Hoffmann An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
description	Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole genome sequencing (WES, WGS) has enlarged the diagnostic toolkit but also increased the complexity of the endeavour. Structured multidisciplinary clinical pathways (CPW) can guide diagnosis, treatment, and care of patients with rare diseases, link scientific evidence to clinical practice and optimise clinical outcomes whilst maximising clinical efficiency. Results In contrast to the common approach of appending disease-specific CPWs to disease-specific guidelines, we suggest a generic CPW manoeuvring the patient along the way of finding the correct diagnosis by applying the best diagnostic strategy into an appropriate system of treatment and care. Available guidelines can be integrated into the generic CPW in the course of its application. The approach also applies to situations where a diagnosis remains unsolved. The backbone of the generic CPW is a set of multidisciplinary structured case conferences projecting and evaluating diagnostic and/or therapeutic steps, enforcing to integrate best scientific evidence with clinical experience. The generic CPW is stated as a flowchart and a checklist which can be used to record and document parsimoniously the structure, process and results of a patient’s pathway, but also as a data model for research. It was applied in a multicentre setting with 587 cases each with a presumptive diagnosis of a rare disease. In 369 cases (62.8%) a diagnosis could be confirmed, and multidisciplinary treatment and/or care was initiated. The median process time from first contact until confirmation of diagnosis by WES was 109 days and much shorter than diagnostic delays reported in the literature. Application of the CPW is illustrated by two case reports. Conclusions Our model is a tool to change the diagnostic odyssey into an organised and trackable route. It can also be used to inform patients and families about the stages of their individual route, to update health care providers only partially involved or attending specialised treatment and care, like the patient’s or family’s primary physician, and finally to train novices in the field.
format	article
author	Daniela Choukair Fabian Hauck Markus Bettendorf Heiko Krude Christoph Klein Tobias Bäumer Reinhard Berner Min Ae Lee-Kirsch Corinna Grasemann Peter Burgard Georg F. Hoffmann
author_facet	Daniela Choukair Fabian Hauck Markus Bettendorf Heiko Krude Christoph Klein Tobias Bäumer Reinhard Berner Min Ae Lee-Kirsch Corinna Grasemann Peter Burgard Georg F. Hoffmann
author_sort	Daniela Choukair
title	An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
title_short	An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
title_full	An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
title_fullStr	An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
title_full_unstemmed	An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
title_sort	integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project translate-namse funded by the german federal joint committee
publisher	BMC
publishDate	2021
url	https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

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