E Pitini

Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations

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.

Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

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.

How is genetic testing evaluated? A systematic review of the literature

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.

Identification of Delivery Models for the Provision of Predictive Genetic Testing in Europe: Protocol for a Multicentre Qualitative Study and a Systematic Review of the Literature

Introduction The appropriate application of genomic technologies in healthcare is surrounded by many concerns. In particular, there is a lack of evidence on what constitutes an optimal genetic service delivery model, which depends on the type of genetic test and healthcare context considered. The present project aims to identify, classify, and evaluate delivery models for the provision of predictive genetic testing in Europe and in selected Anglophone extra-European countries (the USA, Canada, Australia, and New Zealand). It also sets out to survey the European public health community’s readiness to incorporate public health genomics into their practice. Materials and equipment The project consists of (i) a systematic review of published literature and selected country websites, (ii) structured interviews with health experts on the genetic service delivery models in their respective countries, and (iii) a survey of European Public Health Association (EUPHA) members’ knowledge and attitudes toward genomics applications in clinical practice. The inclusion criteria for the systematic review are that articles be published in the period 2000–2015; be in English or Italian; and be from European countries or from Canada, the USA, Australia, or New Zealand. Additional policy documents will be retrieved from represented countries’ government-affiliated websites. The results of the research will be disseminated through the EUPHA network, the Italian Network for Genomics in Public Health (GENISAP), and seminars and workshops. Expected impact of the study on public health The transfer of genomic technologies from research to clinical application is influenced not only by several factors inherent to research goals and delivery of healthcare but also by external and commercial interests that may cause the premature introduction of genetic tests in the public and private sectors. Furthermore, current genetic services are delivered without a standardized set of process and outcome measures, which makes the evaluation of healthcare services difficult. The present study will identify and classify delivery models and, subsequently, establish which are appropriate for the provision of predictive genetic testing in Europe by comparing sets of process and outcome measures. In this way, the study will provide a basis for future recommendations to decision makers involved in the financing, delivery, and consumption of genetic services.

EUROPEAN SURVEY ON KNOWLEDGE AND ATTITUDES OF PUBLIC HEALTH PROFESSIONALS ON PUBLIC HEALTH GENOMICS: PILOT STUDY

EUROPEAN SURVEY ON KNOWLEDGE AND ATTITUDES OF PUBLIC HEALTH PROFESSIONALS ON PUBLIC HEALTH GENOMICS: PILOT STUDY Background: During the past decade a debate has arisen on the possible utility of genomic science for public health purposes. Within this context, a survey is being conducted to assess attitudes of European public health (PH) professionals belonging to EUPHA network regarding their role in the implementation of public health genomics (PHG), and their knowledge and attitudes regarding genetic testing and the delivery of genetic services. Methods: A pilot on-line survey was conducted on professionals from Sapienza University of Rome and the Vrije University of Amsterdam. The survey tool is composed of 5 sections: Personal details, Professional activity, Knowledge on genetic testing and delivery of genetic services, Attitudes on genetic testing and delivery of genetic services, Attitudes on the role of PH professionals in PHG. Results: 34 people responded to the questionnaire, mostly medical doctors (61,8%). No respondents correctly identified all evidence-based applications of genetic testing. More than one third of respondents agreed that it would be more important to invest resources in the social and environmental causes of ill health than in genetic testing. Nearly 70% thought that PHG needs to be grounded on evidence of effectiveness, a lower rate agreed ii should be grounded on cost-effectiveness. The rate of agreement with the proposed roles of PH professionals in PHG was very high. Conclusions: This pilot study showed a positive attitude but the need to improve knowledge of PH professionals on PHG. It provided useful input for the implementation of the survey to all members of the EUPHA network.