Formulazione di un questionario che indaga gli aspetti organizzativi nell’Health Technology Assessment della Whole Genome Sequencing in maniera accurata e praticabile

[Autom. eng. transl.] Objectives - Draw up a questionnaire aimed at investigating the domain of organizational aspects (ORG) linked to the implementation and use of Whole Genome Sequencing (WGS) diagnostic technology. Methodology - Following the extraction of the results of the multiple correspondence analyzes relating to diagnostic technologies carried out by Cacciatore et al., the four EUnetHTA issues to which to refer, according to the author, to study the ORG domain were identified (G0004 , G0005, G0006, D0023). Following the indications of the EUnetHTA Core Model 3.0, with particular attention paid to the Assessment element cards of the aforementioned issues, and following the study of the literature and the HTA reports that describe the organizational aspects of the WGS, a questionnaire was drawn up through the application web Google Forms. The guidance of Boparai et al was also followed to design the questionnaire. The questionnaire will be distributed by email to Italian clinical centers that use WGS. Results - The resulting open-ended and multiple-choice questions are distributed in 6 sections, of which the last 4 derive unambiguously from the 4 predetermined issues, and investigate the following conceptual areas: the characteristics of the participant in the questionnaire (4 questions) and of the center where he works (2 questions), the activities and resources associated with the use of WGS (1 question), the actors with whom the participant interfaces and the actions that take place so that the processes relating to WGS (1 question) and to Whole Exome Sequencing (WES) (1 question) are performed, the cooperation and/or communication relationships with other centers that use WGS (2 questions), the opinions on the facilitations or limitations in access to the technology deriving from the centralization (2 questions) of the same, the opinions on the economic and qualitative advantages and disadvantages deriving from the decentralization of the technology (2 questions), the costs linked to the WGS (1 question), the influence of the WGS on the use of other tests genetic tests (1 question), opinions on the simplification of diagnostic pathways resulting from widespread use of WGS (2 questions), the use of WGS as a first level genetic test and opinions on eligible populations (2 questions). The recipients of the questionnaire are professionals who work in centers that use WGS: biologists, doctors, computer scientists, laboratory technicians, nurses, genetic counselors.