[Report: assessment of STAT5 phosphorylation status by flow cytometry]
Provost C, Muradqadam K
Record ID 32018013791
French
Original Title:
Évaluation du statut de phosphorylation de STAT5 par cytométrie en flux
Authors' objectives:
The Ministère de la Santé et des Services sociaux (MSSS) has mandated the Institut
national d'excellence en santé et en services sociaux (INESSS) to evaluate the relevance
of introducing a new flow cytometry (FC) analysis into the Répertoire québécois et
système de mesure des procédures de biologie médicale (hereinafter referred to as the
Répertoire). This analysis is used to determine the phosphorylation status of the STAT5
(signal transducer and activator of transcription 5) protein in patients suspected of
suffering from certain inborn errors of immunity (IEIs).
Authors' results and conclusions:
RESULTS (#1 POPULATION DIMENSION): IEIs are a group of rare genetic diseases that are generally caused by pathogenic genetic
variants that compromise innate or adaptive immunity. STAT5-associated IEIs include
growth hormone insensitivity with immune dysregulation syndromes 1 (GHISID1) and 2
(GHISID2). Their symptoms include growth retardation, increased susceptibility to
infections, immune deficiencies and various autoimmune diseases. The presence of antiGM-CSF autoantibodies4 is a phenocopy of STAT5-associated IEI, which presents with
decreased pSTAT5, surfactant accumulation in alveoli and pulmonary insufficiency. Both
children and adults are affected. Confirmation of the diagnosis enables a more precise
prognosis to be made, and suitable therapeutic approaches to be adopted.
(#2 CLINICAL DIMENSION): The results of the analysis could help improve patient management, particularly regarding
the use of targeted therapies. The addition of the pSTAT5 test to the Répertoire would
contribute to the rapid management of patients by limiting diagnostic errancy. It would
also promote the availability of the test and standardize the diagnostic services offered
for these rare diseases. (#3 ORGANIZATIONAL DIMENSION): The applicant laboratory states that it has the capacity to conduct all analyses to cover
the needs of the entire province, and to cope with any increase in volume. (#4 SOCIO-CULTURAL DIMENSION): Many of the learned societies and clinicians consulted recommend the pSTAT5 test for
the diagnosis of certain IEIs. The eventual addition of a functional test like pSTAT5 is in
line with the Politique québécoise pour les maladies rares published in 2022 by the
MSSS and completes the offer of molecular diagnosis of IEIs proposed by the Réseau
québécois de diagnostic moléculaire (RQDM). (#5 ECONOMIC DIMENSION): No economic studies evaluating the cost-effectiveness of a test to determine pSTAT5
status have been identified. Given the absence of data relating the anticipated clinical
benefits to the costs of the method, the INESSS cannot accurately conduct its own
efficiency analysis. However, according to clinicians, several clinical benefits are
expected in terms of optimizing patient management, at low cost. The addition of the proposed test could generate additional costs of approximately
$21,800 over the first three years.
Authors' recommendations:
The INESSS recommends that the analysis of pSTAT5 status determination by FC be
included in the Répertoire, given that:
• The test enables detection of pSTAT5 defects, confirmation of the presence of
anti-GM-CSF autoantibodies, and analysis of the pathogenicity of variants
identified by genetic analysis. It aids patient management by reducing the
diagnostic wandering often observed with rare diseases, and enables appropriate
treatment to be offered rapidly;
• analysis has been available for several years in the Quebec healthcare system;
• this analysis is recommended by learned societies and clinicians specializing in
the diagnosis of certain IEIs. It is also in line with the Politique québécoise pour
les maladies rares, and complements RQDM's IREs molecular diagnostic
services;
• the economic risk of listing the analysis in the Répertoire is considered very low.
The designated laboratory(ies) must meet ISO 15189 requirements.
Authors' methods:
The evaluation process involved a rapid review of the scientific literature, a grey literature
search and an ad hoc consultation with clinicians specializing in hematology-oncology
and immunology-allergology. A review of the economic literature was conducted on the
cost-effectiveness of STAT5 phosphorylation analysis (pSTAT5). A budget impact
analysis was also conducted, considering the costs associated with adding this test to the
Repertoire. Costs were projected over a three-year time frame from the perspective of
the Quebec healthcare system.
The findings of this evaluation procedure were used to guide the discussions and
analysis process of the Direction de l'évaluation des médicaments et des technologies
aux fins de remboursement (DER).
Details
Project Status:
Completed
Year Published:
2024
URL for published report:
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/evaluation-du-statut-de-phosphorylation-de-stat5-par-cytometrie-en-flux.html
English language abstract:
An English language summary is available
Publication Type:
Full HTA
Country:
Canada
Province:
Quebec
MeSH Terms
- Genetic Diseases, Inborn
- Phosphorylation
- Flow Cytometry
- Genetic Testing
- Immune System Diseases
- Autoimmune Diseases
- Immunologic Deficiency Syndromes
- Primary Immunodeficiency Diseases
- STAT5 Transcription Factor
- Immunophenotyping
Contact
Organisation Name:
Institut national d'excellence en sante et en services sociaux
Contact Address:
L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369
Contact Name:
demande@inesss.qc.ca
Contact Email:
demande@inesss.qc.ca
Copyright:
L'Institut national d'excellence en sante et en services sociaux (INESSS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.