Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2). Others refer to the Wilson and Jungner screening criteria (n = 3) or to a mixture of different criteria (n = 5). Due to the widespread use of the ACCE Framework, the most frequently used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. Less attention is given to the context of implementation. An economic dimension is always considered, but not in great detail. Consideration of delivery models, organizational aspects, and consumer viewpoint is often lacking. A deeper analysis of such context-related evaluation dimensions may strengthen a comprehensive evaluation of genetic tests and support the decision-making process.

The development of high-throughput omics technologies represents an unmissable opportunity for evidence-based prevention of adverse effects on human health. However, the applicability and access to multi-omics tests are limited. In Italy, this is due to the rapid increase of knowledge and the high levels of skill and economic investment initially necessary. The fields of human genetics and public health have highlighted the relevance of an implementation strategy at a national level in Italy, including integration in sanitary regulations and governance instruments. In this review, the emerging field of public health genomics is discussed, including the polygenic scores approach, epigenetic modulation, nutrigenomics, and microbiomes implications. Moreover, the Italian state of implementation is presented. The omics sciences have important implications for the prevention of both communicable and noncommunicable diseases, especially because they can be used to assess the health status during the whole course of life. An effective population health gain is possible if omics tools are implemented for each person after a preliminary assessment of effectiveness in the medium to long term.

In recent years, an increase in vaccine hesitancy has led to a decrease in vaccination coverage in several countries. We conducted a systematic review of studies that assessed knowledge of and attitudes toward pediatric vaccinations, and the vaccination choices and their determinants among pregnant women. A total of 6,277 records were retrieved, and 16 full texts were included in the narrative synthesis. The published literature on the topic shows that, overall, pregnant women believe that vaccines are important for the protection of their children and the community, but various concerns and misunderstandings persist around vaccine safety and efficacy, which reduce the trust of expectant mothers in immunization. Nevertheless, such attitudes and choices vary depending on the vaccine being considered and the corresponding determinants should therefore be studied in the context of each specific vaccination. Further research on this topic is needed, particularly in non-western countries.

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. 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. 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). 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.

We evaluated whether genetic tests with evidence of clinical and personal utility (i.e. APC and BRCA1/2 tests) are associated with higher satisfaction and a more positive perception of care experience than those with undefined utility (i.e. tests for thrombophilia). A cross-sectional survey was performed through telephone interviews to patients tested for deleterious variants in APC or BRCA1/2 genes, or for inherited thrombophilia (FV Leiden and/or FIIG20210A) during a 5-year period (2008–2012). Three aspects of patient experience were assessed: effective communication through pre- and post-test genetic counselling; collaboration between caregivers on the management of patient care; and impact of genetic testing on quality of life. Overall 237 patients had telephone interviews. Multivariate logistic regression analyses showed that patients tested for APC or BRCA1/2 variants were more likely to be satisfied with both pre- and post-test counselling than those tested for inherited thrombophilia (APC vs. thrombophilia, p = 0.039 and 0.005; BRCA1/2 vs. thrombophilia, p = 0.030 and <0.001). Patients tested for APC were more likely to report an improvement in quality of life than those for thrombophilia (OR = 2.97, 95%CI 1.14, 7.72; p = 0.025). A positive association was observed between patients who underwent BRCA1/2 testing, and self-perceived improvement in quality of life (OR = 1.41, 95%CI 0.74, 2.69; p = 0.294). Tests of undefined clinical and personal utility are associated with a lower degree of patient satisfaction with genetic counselling and no clear opinions on changes in quality of life compared with those with well-defined utility.

In response to the decline in child vaccination coverage and the subsequent occurrence of large vaccine-preventable disease outbreaks, in 2017 Italy introduced a new law that made ten vaccines mandatory for children aged 0–16 years. The policy change initiated an ongoing debate among the general public, as well as in the political arena and the scientific community, over this major public health concern. Hence, we conducted a survey aimed at assessing Italian public health professionals’ attitudes towards and opinions on mandatory vaccination. A validated online questionnaire was administered to 1350 members of the Italian Society of Hygiene, Preventive Medicine and Public Health. Among the 1044 responders (response rate 77%), a large majority were in favour of the Italian mandatory vaccination law (91%) and against its repeal (74%). Nevertheless, according to our sample, maintaining a high level of vaccination coverage without the need to mandate would be preferable, and thus efforts to promote vaccine confidence and proactive vaccine uptake are still needed.