Research ExplorerPublicationsThe Interdisciplinary Diagnosis of Rare Diseases

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, Vol. 119, No. 27-28, 11.07.2022, p. 469-475.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Rillig, F, Grüters, A, Bäumer, T, Hoffmann, GF, Choukair, D, Berner, R, Lee-Kirsch, MA, Mücke, M, Grasemann, C, Ripke, A, Zeltner, L, Müller, G, Glauch, M, Graessner, H, Hauck, F, Klein, C, Nöthen, MM, Riess, O, Mundlos, S, Meitinger, T, Kurt, T, Wainwright, KL, Schmitt, J, Schramm, C & Krude, H 2022, 'The Interdisciplinary Diagnosis of Rare Diseases', DTSCH ARZTEBL INT, vol. 119, no. 27-28, pp. 469-475. https://doi.org/10.3238/arztebl.m2022.0219

APA

Rillig, F., Grüters, A., Bäumer, T., Hoffmann, G. F., Choukair, D., Berner, R., Lee-Kirsch, M. A., Mücke, M., Grasemann, C., Ripke, A., Zeltner, L., Müller, G., Glauch, M., Graessner, H., Hauck, F., Klein, C., Nöthen, M. M., Riess, O., Mundlos, S., ... Krude, H. (2022). The Interdisciplinary Diagnosis of Rare Diseases. DTSCH ARZTEBL INT, 119(27-28), 469-475. https://doi.org/10.3238/arztebl.m2022.0219

Vancouver

Rillig F, Grüters A, Bäumer T, Hoffmann GF, Choukair D, Berner R et al. The Interdisciplinary Diagnosis of Rare Diseases. DTSCH ARZTEBL INT. 2022 Jul 11;119(27-28):469-475. https://doi.org/10.3238/arztebl.m2022.0219

Bibtex

@article{db57c28bb08f42a0af39afbc2bae628b,
title = "The Interdisciplinary Diagnosis of Rare Diseases",
abstract = "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 Aktionsb{\"u}ndnis f{\"u}r 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.",
keywords = "Adult, Humans, Adolescent, Rare Diseases/diagnosis, Prospective Studies, Whole Exome Sequencing, Registries",
author = "Franziska Rillig and Annette Gr{\"u}ters and Tobias B{\"a}umer and Hoffmann, {Georg Friedrich} and D Choukair and Reinhard Berner and Lee-Kirsch, {Min Ae} and Martin M{\"u}cke and Corinna Grasemann and A Ripke and Lena Zeltner and G M{\"u}ller and M Glauch and Holm Graessner and Fabian Hauck and C Klein and N{\"o}then, {M M} and O Riess and S Mundlos and Thomas Meitinger and T Kurt and Wainwright, {K L} and J Schmitt and Christoph Schramm and Heiko Krude",
year = "2022",
month = jul,
day = "11",
doi = "10.3238/arztebl.m2022.0219",
language = "English",
volume = "119",
pages = "469--475",
journal = "DTSCH ARZTEBL INT",
issn = "1866-0452",
publisher = "Deutscher Arzte-Verlag",
number = "27-28",

}

RIS

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 -