A proposal of a new evaluation framework towards implementation of genetic tests

Abstract

Background The existing frameworks for the evaluation of genetic and genomic applications clearly address the technical and clinical value of a test, but are less concerned with the way genetic services are delivered and organized. We therefore aimed to develop a comprehensive new framework that includes an assessment of service delivery. Methods A new framework was built on the evaluation dimensions identified through a systematic review of the existing frameworks and a Delphi survey of Italian experts in public health genomics. Results Our framework has four sections. The first two sections, respectively, guide the evidence collection process for the genetic test (analytic validity; clinical validity; clinical utility; personal utility) and its delivery models (organizational aspects; economic evaluation; ethical, legal and social implications; patient perspective). The third section guides the formulation of the research priorities to be addressed in future research. Finally, the fourth section suggests three criteria to summarize the collected evidence (net benefit, cost-effectiveness, feasibility). Conclusion We have successfully developed an evaluation framework for the evaluation of genetic tests that includes an assessment of service delivery. It also introduces some neglected evaluation dimensions such as personal utility and patient perspective.

Precision Medicine and Public Health: New Challenges for Effective and Sustainable Health

“…Based on these findings, a combination of the ACCE model, with its focus on the unique aspects characterizing the genetic tests, and the HTA process, useful to guide provision and coverage decisions, might represent the best approach to the evaluation of genetic tests. Recently, Sapienza University of Rome tried to realize such an integrated approach and proposed a framework distinguished by a dual focus on both the genetic test and its delivery models [ 180 ]. The first section of this new framework addresses the genetic test from a technical and clinical perspective, mostly adopting the ACCE evaluation dimensions (analytic validity, clinical validity, and clinical utility), with the addition of personal utility, a dimension that broadly encompasses the nonclinical outcomes the test may have for patients [ 181 ].…”

Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population

“…As genetic screening criteria have been further developed and refined, there has been increased emphasis on the service delivery context of genetic testing—such as organizational aspects, economic considerations and patient perspectives—as being crucial to inform public health considerations ( Molster et al , 2017 ; Pitini et al , 2018 , 2019 ). These developments reflect some of the emerging or expanded criteria that take into account factors like equity and access ( Andermann et al , 2008 ).…”

Time to Align: A Call for Consensus on the Assessment of Genetic Testing

“…On the other side, HTA-based frameworks allow a more systematic analysis of the economic and organizational aspects of the delivery of the genetic testing programme as a whole; this is important, particularly for universal healthcare systems, as it allows an efficient and equitable allocation of healthcare resources (1). To combine the best aspects of the ACCE model and the HTA process, we published in 2019 a proposal for an integrated framework aimed at assessing both the genetic test and its delivery models (3). In this new framework, the assessment of the technical and clinical value of a genetic test is mainly based on the ACCE evaluation dimensions (i.e., analytic validity, clinical validity, and clinical utility), with the single addition of the personal utility dimension, i.e., an assessment of the non-clinical outcomes that the test may exert on patients.…”