Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
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.
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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
Posted 18 Jan, 2021
On 17 Feb, 2021
On 30 Jan, 2021
On 06 Jan, 2021
On 06 Jan, 2021
On 06 Jan, 2021
On 08 Dec, 2020
Received 07 Dec, 2020
On 29 Nov, 2020
Received 20 Sep, 2020
On 29 Aug, 2020
Invitations sent on 21 Jul, 2020
On 15 Jun, 2020
On 14 Jun, 2020
On 14 Jun, 2020
On 12 Jun, 2020
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
Posted 18 Jan, 2021
On 17 Feb, 2021
On 30 Jan, 2021
On 06 Jan, 2021
On 06 Jan, 2021
On 06 Jan, 2021
On 08 Dec, 2020
Received 07 Dec, 2020
On 29 Nov, 2020
Received 20 Sep, 2020
On 29 Aug, 2020
Invitations sent on 21 Jul, 2020
On 15 Jun, 2020
On 14 Jun, 2020
On 14 Jun, 2020
On 12 Jun, 2020
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