The challenge to health systems is sustainability, not only in the economic and financial sense of compatibility of spending with allocated resources, but also in terms of equity in access to services and care, quality, safety, innovation and research, that is, in terms of the effectiveness of the right to health. Some countries, such as Italy, do not have formal health technology assessment (HTA) or other similar processes that take into account views outside the decision maker.

In the Italian national context, there is currently no single tariff for the reimbursability and pricing of genomic technologies. In fact, although genomic tests have been in clinical practice for many years now, to date they have not yet been included in the LEA (Minimum healthcare provision), especially in view of the fact that a defined and transparent process for updating the Essential Levels of Care has been operational since 2018. With the goal of structuring guidelines for the adaptability of economic evaluations to currently available and developing genomic technologies, a literature review was conducted.

The literature review showed that there are some methodological and practical issues that need to be carefully considered when designing and conducting economic evaluations of genomic tests. In more detail, five key concepts were identified in order to implement the most comprehensive economic evaluation of the technologies under study: the PICO model, the survey perspective, the costs included in the analysis, the effectiveness analysis, the time horizon, and the discount rate.

Adequate definition of these concepts appears to be of paramount importance in view of the fact that genomic testing may have important consequences for future generations as well. For the purpose of sustainability of access of genomic technologies, the use of Budget Impact Analysis (BIA) is recommended in all analysis settings being essential for the regulator to tie access to its available budget capacity.