The Interdisciplinary Diagnosis of Rare Diseases
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The Interdisciplinary Diagnosis of Rare Diseases. / Rillig, Franziska; Grüters, Annette; Bäumer, Tobias; Hoffmann, Georg Friedrich; Choukair, D; Berner, Reinhard; Lee-Kirsch, Min Ae; Mücke, Martin; Grasemann, Corinna; Ripke, A; Zeltner, Lena; Müller, G; Glauch, M; Graessner, Holm; Hauck, Fabian; Klein, C; Nöthen, M M; Riess, O; Mundlos, S; Meitinger, Thomas; Kurt, T; Wainwright, K L ; Schmitt, J; Schramm, Christoph; Krude, Heiko.
in: DTSCH ARZTEBL INT, Jahrgang 119, Nr. 27-28, 11.07.2022, S. 469-475.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - The Interdisciplinary Diagnosis of Rare Diseases
AU - Rillig, Franziska
AU - Grüters, Annette
AU - Bäumer, Tobias
AU - Hoffmann, Georg Friedrich
AU - Choukair, D
AU - Berner, Reinhard
AU - Lee-Kirsch, Min Ae
AU - Mücke, Martin
AU - Grasemann, Corinna
AU - Ripke, A
AU - Zeltner, Lena
AU - Müller, G
AU - Glauch, M
AU - Graessner, Holm
AU - Hauck, Fabian
AU - Klein, C
AU - Nöthen, M M
AU - Riess, O
AU - Mundlos, S
AU - Meitinger, Thomas
AU - Kurt, T
AU - Wainwright, K L
AU - Schmitt, J
AU - Schramm, Christoph
AU - Krude, Heiko
PY - 2022/7/11
Y1 - 2022/7/11
N2 - BACKGROUND: Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs).METHODS: As part of the joint Translate-NAMSE project, sponsored by the G-BA Innovation Fund (G-BA, German Federal Joint Committee), we investigated the performance of RDCs in establishing the diagnosis of patients suspected to have a rare disease. The results of interdisciplinary case conferences and of exome diagnostic tests were analyzed in a prospective, multicenter observational study.RESULTS: A total of 5652 patients (of whom 3619 were under 18 years old, and 2033 were at least 18 years old) from 10 RDCs who did not yet have a definitive diagnosis of a rare disease were included in the study. On average, those who were under 18 years old had been symptomatic for 4.5 years without receiving a diagnosis in a standard care setting; the analogous figure for adult patients was 8.2 years. Over the course of this project (2017-2021), 1682 patients (30%) received a definitive diagnosis. 193 had a common disease, 88 had a psychosomatic disease (only in patients who were at least 18 years old), and 1401 had a rare disease. 14 850 case conferences were conducted. 1599 exome analyses led to 506 definitive genetic diagnoses (32%).CONCLUSION: A diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
AB - BACKGROUND: Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs).METHODS: As part of the joint Translate-NAMSE project, sponsored by the G-BA Innovation Fund (G-BA, German Federal Joint Committee), we investigated the performance of RDCs in establishing the diagnosis of patients suspected to have a rare disease. The results of interdisciplinary case conferences and of exome diagnostic tests were analyzed in a prospective, multicenter observational study.RESULTS: A total of 5652 patients (of whom 3619 were under 18 years old, and 2033 were at least 18 years old) from 10 RDCs who did not yet have a definitive diagnosis of a rare disease were included in the study. On average, those who were under 18 years old had been symptomatic for 4.5 years without receiving a diagnosis in a standard care setting; the analogous figure for adult patients was 8.2 years. Over the course of this project (2017-2021), 1682 patients (30%) received a definitive diagnosis. 193 had a common disease, 88 had a psychosomatic disease (only in patients who were at least 18 years old), and 1401 had a rare disease. 14 850 case conferences were conducted. 1599 exome analyses led to 506 definitive genetic diagnoses (32%).CONCLUSION: A diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
KW - Adult
KW - Humans
KW - Adolescent
KW - Rare Diseases/diagnosis
KW - Prospective Studies
KW - Whole Exome Sequencing
KW - Registries
U2 - 10.3238/arztebl.m2022.0219
DO - 10.3238/arztebl.m2022.0219
M3 - SCORING: Journal article
C2 - 35635437
VL - 119
SP - 469
EP - 475
JO - DTSCH ARZTEBL INT
JF - DTSCH ARZTEBL INT
SN - 1866-0452
IS - 27-28
ER -