See the published version of this article at Orphanet Journal of Rare Diseases.
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Nathalie Monique Vandevelde
Sciensano
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0157-7963
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This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background: One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing conditions and establishing reference laboratories.
Methods: A feasibility study was performed from May 2015 until August 2016 in order to select the financeable biochemical analyses, and, among them, those that should be performed by reference laboratories. This selection was based on an inventory of analyses used for rare diseases and a survey addressed to the Belgian laboratories of clinical pathology (investigating the annual analytical costs, volumes, turnaround times and the tests unavailable in Belgium and outsourced abroad). A proposal of financeable analyses, financing modalities, reference laboratories’ scope and budget estimation was developed and submitted to the Belgian healthcare authorities. After its approval in December 2016, the implementation phase took place from January 2017 until December 2019.
Results: In 2019, new reimbursement conditions have been published for 46 analyses and eighteen reference laboratories have been recognized. Collaborations have also been developed with 5 foreign laboratories in order to organize the outsourcing and financing of 9 analyses unavailable in Belgium.
Conclusions: In the context of clinical pathology and rare diseases, this initiative enabled to identify unreimbursed analyses and to meet the most crucial financial needs. It also contributed to improve patients’ management by establishing Belgian reference laboratories and foreign referral laboratories for highly-specific analyses and a permanent surveillance, quality and financing framework for those tests.
Keywords
rare diseases, clinical pathology, financing, reference laboratories, reimbursement codes, expertise
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- SupplementaryFigureS1.tif
SUPPLEMENTARY FIGURE S1: Title: Analyses for which the mean annual volumes were not modified by the feasibility study results. Legend: Comparison of the volumes of tests reported by the Belgian laboratories of clinical pathology for 6 different years: group A (light grey bars, period before the presentation of the results of the feasibility study [data collected for 2014 and 2015]) versus group B (dark grey bars, period after the presentation of the results of the feasibility study [data collected for 2016 and 2017]) versus group C (black bars, period from RLs’ recognition [data collected for 2019 and 2020]). Values were calculated as mean volumes ± SD, n=2 for the 3 groups (A,B,C) of two successive years. Statistical analyses were performed by one-way ANOVA with Tukey's posttest for multiple comparisons between the 3 groups. The absence of asterisks indicates values that are not statistically significantly different from each other (p≥0.05). Analyses presented in each panel: a: assessment of Complement component Factor D; b: assessment of Complement component Factor P; c: assessment of plasma porphobilinogen; d: fractionation of plasma porphyrins; e: assessment of the dihydropteridine reductase activity in dried blood spots; f: assessment of plasmalogen levels in red blood cells; g: cytogenetic radiosensitivity assay; h: assessment of δ1-piperideine-6-carboxylate in plasma; i: determination of 5-methyltetrahydrofolate in cerebrospinal fluid; j: analysis of the deformability of erythrocytes using osmotic gradient ektacytometry and separation of red blood cells membrane proteins by SDS-PAGE; k: assessment of free erythrocyte protoporphyrins; l: spectrofluorimetric assessment of plasma porphyrins. Abbreviations: RLs: Reference laboratories
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CURRENT STATUS: Published
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Published
On 17 Feb, 2021
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Editorial decision: Accept
On 30 Jan, 2021
Editor assigned
On 06 Jan, 2021
Submission checks complete
On 06 Jan, 2021
Editor invited
On 06 Jan, 2021
No comments provided
Editorial decision: Minor revision
On 08 Dec, 2020
Review #2 received
Received 07 Dec, 2020
Reviewer #2 agreed
On 29 Nov, 2020
Review #1 received
Received 20 Sep, 2020
Reviewer #1 agreed
On 29 Aug, 2020
Reviewers invited
Invitations sent on 21 Jul, 2020
Editor assigned
On 15 Jun, 2020
Submission checks complete
On 14 Jun, 2020
Editor invited
On 14 Jun, 2020
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Subject Areas
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Nathalie Monique Vandevelde
Sciensano
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0157-7963
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 2
Posted 18 Jan, 2021
Published
On 17 Feb, 2021
No community comments so far
Editorial decision: Accept
On 30 Jan, 2021
Editor assigned
On 06 Jan, 2021
Submission checks complete
On 06 Jan, 2021
Editor invited
On 06 Jan, 2021
No comments provided
Editorial decision: Minor revision
On 08 Dec, 2020
Review #2 received
Received 07 Dec, 2020
Reviewer #2 agreed
On 29 Nov, 2020
Review #1 received
Received 20 Sep, 2020
Reviewer #1 agreed
On 29 Aug, 2020
Reviewers invited
Invitations sent on 21 Jul, 2020
Editor assigned
On 15 Jun, 2020
Submission checks complete
On 14 Jun, 2020
Editor invited
On 14 Jun, 2020
First submitted
On 12 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background: One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing conditions and establishing reference laboratories.
Methods: A feasibility study was performed from May 2015 until August 2016 in order to select the financeable biochemical analyses, and, among them, those that should be performed by reference laboratories. This selection was based on an inventory of analyses used for rare diseases and a survey addressed to the Belgian laboratories of clinical pathology (investigating the annual analytical costs, volumes, turnaround times and the tests unavailable in Belgium and outsourced abroad). A proposal of financeable analyses, financing modalities, reference laboratories’ scope and budget estimation was developed and submitted to the Belgian healthcare authorities. After its approval in December 2016, the implementation phase took place from January 2017 until December 2019.
Results: In 2019, new reimbursement conditions have been published for 46 analyses and eighteen reference laboratories have been recognized. Collaborations have also been developed with 5 foreign laboratories in order to organize the outsourcing and financing of 9 analyses unavailable in Belgium.
Conclusions: In the context of clinical pathology and rare diseases, this initiative enabled to identify unreimbursed analyses and to meet the most crucial financial needs. It also contributed to improve patients’ management by establishing Belgian reference laboratories and foreign referral laboratories for highly-specific analyses and a permanent surveillance, quality and financing framework for those tests.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6
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