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. 2021 Feb 17;16(1):89.
doi: 10.1186/s13023-021-01728-1.

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Nathalie M Vandevelde  1   2 , Pieter Vermeersch  3   4   5 , Katrien M J Devreese  3   6 , Marie-Françoise Vincent  3   7   8 , Béatrice Gulbis  3   9 , François Eyskens  10   11   12 , François Boemer  3   13 , André Gothot  3   14 , Viviane O Van Hoof  3   15 , Carolien Bonroy  3   6 , Hedwig Stepman  3   6 , Geert A Martens  3   16   17 , Xavier Bossuyt  3   4 , Laurence Roosens  3   18 , Julie Smet  9 , Hilde Laeremans  19 , Ilse Weets  3   20 , Jean-Marc Minon  21 , Kris Vernelen  22 , Wim Coucke  22 ; Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases
Collaborators, Affiliations

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Nathalie M Vandevelde et al. Orphanet J Rare Dis. .

Abstract

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: Clinical pathology; Expertise; Financing; Rare diseases; Reference laboratories; Reimbursement codes.

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Conflict of interest statement

The RDWG members involved in the priority analyses selection work in some of the laboratories performing the analyses covered in this paper.

Figures

Fig. 1
Fig. 1
Illustration of the different steps of the study. BCCP Belgian Commission on Clinical Pathology, INAMI-RIZIV National Institute for Health and Disability Insurance, RD Royal Decree, RDWG Rare Diseases Working Group, RLs Reference laboratories
Fig. 2
Fig. 2
Repartition of the selected financeable priority analyses among their respective domains of clinical pathology
Fig. 3
Fig. 3
Volumes reported in 2016 for the 73 priority analyses categorized according to their financing modality
Fig. 4
Fig. 4
Representation of the new Belgian reference laboratories. AADC aromatic l-amino acid decarboxylase, BH4 tetrahydrobiopterin, CSF cerebrospinal fluid, DHFR dihydrofolate reductase, DHPR dihydropteridine reductase, FOLR1 folate receptor 1, MTHFR methylene tetrahydrofolate reductase, PA pyridoxic acid, PL pyridoxal, PLP pyridoxal-phosphate, PM pyridoxamine, PN pyridoxine, RCDP rhizomelic chondrodysplasia punctate, SCID severe combined immunodeficiency, SDS-PAGE sodium dodecyl sulfate polyacrylamide gel electrophoresis
Fig. 5
Fig. 5
Foreign laboratories with whom collaborations were established for the outsourcing of analyses unavailable in Belgium. CSF cerebrospinal fluid
Fig. 6
Fig. 6
Significant impact of the feasibility study results on the annual volumes of six analyses. 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. Asterisks indicate values that are statistically significantly different from each other (*p < 0.05). Analyses presented in each panel: a assessment of α-aminoadipic semialdehyde and δ1-piperideine-6-carboxylate in urine; b assessment of B6 vitamers in plasma; c assessment of pterins in urine; d assessment of Complement component Factor B; e assessment of Complement component Factor Bb; f assessment of intra-leukocyte cystine. RLs Reference laboratories
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