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.

Purpose:There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness.Methods:We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing.Results:Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i.e., testing individuals without cancer but with FH suggestive of BRCA mutation; (iii) familial mutation (FM)-based genetic screening, i.e., testing individuals without cancer but with known familial BRCA mutation; and (iv) cancer-based genetic screening, i.e., testing individuals with BRCA-related cancers.Conclusions:Currently BRCA1/2 population-based screening represents good value for the money among Ashkenazi Jews only. FH-based screening is potentially very cost-effective, although further studies that include costs of identifying high-risk women are needed. There is no evidence of cost-effectiveness for BRCA screening of all newly diagnosed cases of breast/ovarian cancers followed by cascade testing of relatives, but programs that include tools for identifying affected women at higher risk for inherited forms are promising. Cost-effectiveness is highly sensitive to the cost of BRCA1/2 testing.Genet Med 18 12, 1171–1180.

Background: The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genetic diseases and various inherited traits. The aim of this study is to evaluate genetic services in order to identify and classify delivery models for the provision of genetic testing in European and in extra-European countries. Methods: A systematic review of the literature was conducted using five electronic resources. Inclusion criteria were that studies be published in English or Italian during the period 2000–2015 and carried out in European or extra-European countries (Canada, USA, Australia, or New Zealand). Results: 148 genetic programs were identified in 117 articles and were delivered mostly in the UK (59, 40%), USA (35, 24%) or Australia (16, 11%). The programs were available nationally (66; 45%), regionally (49; 33%) or in urban areas (21, 14%). Ninety-six (64%) of the programs were integrated into healthcare systems, 48 (32.21%) were pilot programs and five (3%) were direct-to-consumer genetic services. The genetic tests offered were mainly for BRCA1/2 (59, 40%), Lynch syndrome (23, 16%), and newborn screening (18, 12%). Healthcare professionals with different backgrounds are increasingly engaged in the provision of genetic services. Based on which healthcare professionals have prominent roles in the respective patient care pathways, genetic programs were classified into five models: (i) the geneticists model; (ii) the primary care model; (iii) the medical specialist model; (iv) the population screening programs model; and (v) the direct-to-consumer model. Conclusions: New models of genetic service delivery are currently under development worldwide to address the increasing demand for accessible and affordable services. These models require the integration of genetics into all medical specialties, collaboration among different healthcare professionals, and the redistribution of professional roles. An appropriate model for genetic service provision in a specific setting should ideally be defined according to the type of healthcare system, the genetic test provided within a genetic program, and the cost-effectiveness of the intervention. Only applications with proven efficacy and cost-effectiveness should be implemented in healthcare systems and made available to all citizens.

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 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.