Best Practices and Standards to Enhance the Quality of Rare Disease Registries in Canada
Author(s)
Jean-Eric Tarride, PhD1, Deborah Milinkovic, MA2, Augustine Okoh, MSc2, Patricia Caetano, PhD3, Farah Husein, BScPhM, PharmD, MSc3, Nicole Mittmann, MSc PhD3, Claudia Sikorski, PhD3, Komal Aryal, MSc2, Arun Keepanasseril, MDS, MSc2, Carlos Prada, MD, MSc2, Alfonso Iorio, MD, PhD2;
1McMaster University, Professor, McMaster Chair in Health Technology Management, Hamilton, ON, Canada, 2McMaster University, Health Research Methods, Evidence and Impact, hamilton, ON, Canada, 3Canada’s Drug Agency – L’agence des medicaments du Canada, Ottawa, ON, Canada
1McMaster University, Professor, McMaster Chair in Health Technology Management, Hamilton, ON, Canada, 2McMaster University, Health Research Methods, Evidence and Impact, hamilton, ON, Canada, 3Canada’s Drug Agency – L’agence des medicaments du Canada, Ottawa, ON, Canada
OBJECTIVES: To develop a set of standards for Canadian Rare Disease Registries (RDRs) to enhance their ability to produce decision-grade evidence to inform regulatory, health technology assessment (HTA) and payer decision-making in Canada, to support access to effective treatments for Canadian patients living with rare diseases.
METHODS: The guidance was developed using modified Delphi panel methodology. A scoping review of the international literature was conducted to identify potential standards to improve the quality of RDRs, which were included in a survey. The survey was then shared with an expert panel comprised of representatives from RDRs (N=12), patient groups (N=2), HTA agencies (N=3), data holders (N=2), industry (N=2), and academia (N=2). At least 70% of the expert panel had to agree that the item was both important (i.e., its absence would make assessing a RDR for decision-making challenging) and feasible to implement in Canada (i.e., there were no perceived barriers to the implementation of this item), to be included in the guidance. The last step involved sharing the survey results with the panelists prior to a virtual meeting to discuss items that did not reach consensus (i.e., scores greater than 30% and lower than 70%).
RESULTS: The scoping review of 64 documents published between 2010 and April 2023 identified 109 potential standards, of which 52 standards were deemed both important and feasible to implement in Canada following the Delphi panel review. Standards were categorized into three main domains, including 33 governance standards, 13 data standards, and 6 information technology infrastructure standards. Feasibility of implementation was the main reason for exclusion.
CONCLUSIONS: This guidance used a modified Delphi process to incorporate the input of multiple partners in the development of the standards and guiding principles for RDRs, which will support them in producing decision-grade evidence.
METHODS: The guidance was developed using modified Delphi panel methodology. A scoping review of the international literature was conducted to identify potential standards to improve the quality of RDRs, which were included in a survey. The survey was then shared with an expert panel comprised of representatives from RDRs (N=12), patient groups (N=2), HTA agencies (N=3), data holders (N=2), industry (N=2), and academia (N=2). At least 70% of the expert panel had to agree that the item was both important (i.e., its absence would make assessing a RDR for decision-making challenging) and feasible to implement in Canada (i.e., there were no perceived barriers to the implementation of this item), to be included in the guidance. The last step involved sharing the survey results with the panelists prior to a virtual meeting to discuss items that did not reach consensus (i.e., scores greater than 30% and lower than 70%).
RESULTS: The scoping review of 64 documents published between 2010 and April 2023 identified 109 potential standards, of which 52 standards were deemed both important and feasible to implement in Canada following the Delphi panel review. Standards were categorized into three main domains, including 33 governance standards, 13 data standards, and 6 information technology infrastructure standards. Feasibility of implementation was the main reason for exclusion.
CONCLUSIONS: This guidance used a modified Delphi process to incorporate the input of multiple partners in the development of the standards and guiding principles for RDRs, which will support them in producing decision-grade evidence.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PT39
Topic
Health Technology Assessment
Disease
SDC: Rare & Orphan Diseases