The provision of genetic testing and related services in Quebec, Canada

Background: Research in the field of genomics and genetics has evolved in recent years and so has the demand of consumers who are increasingly interested in genomic prediction of diseases and various traits. The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada. Methods: An ad hoc questionnaire was designed and administered online in 2017 to healthcare workers with good knowledge or experience in the provision of BReast CAncer genes 1 and 2 (BRCA1/2), Lynch syndrome, familial hypercholesterolemia, inherited thrombophilia genetic tests, engaged in policy planning or evaluation of genetic services. A quali-quantitative analysis of the survey results was performed. Results: Thirty professionals participated in the study. The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. Barriers to genetic services are the coverage of genetic tests by the publicly funded healthcare system, the availability of qualified personnel, and the number of genetic centers. Regulatory oversight concerning the provision of genetic services appears to be insufficient. Conclusions: Integration between genetics and the overall healthcare system in Quebec is in an early phase. Current models of genetic services require good level of genetic knowledge by all medical specialists, collaboration among different healthcare personnel, and work redistribution. The proper implementation of genomics into healthcare can be achieved through education and training, proper regulatory oversight, genomic policies, and public awareness

Changes in knowledge, attitudes and behaviors of Italian university students regarding contraceptive methods and STDs (1998–2008): a cross-sectional study

Aim: The aim of the study is to evaluate changes in opinions and behaviors of university students about sexual attitudes, use and effectiveness of contraceptive methods and sexually transmitted diseases (STDs). Subjects and methods: The study was carried out through three surveys in 1998, 2003 and 2008. A self-completion questionnaire, divided into three major sections, was administered. The groups were analyzed with the Chi-square test and the multiple logistic regression analysis; the significance level was set at p < 0.05. Results: Contraceptive methods were not used by 12.0, 12.5, and 16.2 % of the sample in 1998, in 2003 and 2008 respectively. The condom was the most common method used by responders, followed by the pill; both methods of birth control are also considered the most effective. In 2008, students demonstrated to have a good knowledge about STDs transmission through sexual intercourse and contraceptive use was higher among responders with multiple partners (p = 0.028), lower in smokers (p= 0.003) and female gender (p = 0.001). Conclusion: The results highlight the necessity to activate programs on sex education, on the use of contraceptives and STD prevention. Peer education should also be considered. © 2012 Springer-Verlag

Genomics knowledge and attitudes among European public health professionals. Results of a cross-sectional survey

Background The international public health (PH) community is debating the opportunity to incorporate genomic technologies into PH practice. A survey was conducted to assess attitudes of the European Public Health Association (EUPHA) members towards their role in the implementation of public health genomics (PHG), and their knowledge and attitudes towards genetic testing and the delivery of genetic services. Methods EUPHA members were invited via monthly newsletter and e-mail to take part in an online survey from February 2017 to January 2018. A descriptive analysis of knowledge and attitudes was conducted, along with a univariate and multivariate analysis of their determinants. Results Five hundred and two people completed the questionnaire, 17.9% were involved in PHG activities. Only 28.9% correctly identified all medical conditions for which there is (or not) evidence for implementing genetic testing; over 60% thought that investing in genomics may divert economic resources from social and environmental determinants of health. The majority agreed that PH professionals may play different roles in incorporating genomics into their activities. Better knowledge was associated with positive attitudes towards the use of genetic testing and the delivery of genetic services in PH (OR = 1.48; 95% CI 1.01–2.18). Conclusions Our study revealed quite positive attitudes, but also a need to increase awareness on genomics among European PH professionals. Those directly involved in PHG activities tend to have a more positive attitude and better knowledge; however, gaps are also evident in this group, suggesting the need to harmonize practice and encourage greater exchange of knowledge among professionals

Cost-effectiveness of RAS genetic testing strategies in patients with metastatic colorectal cancer. A systematic review

Background: Monoclonal antibodies against epidermal growth factor receptor (EGFR) have proved beneficial for the treatment of metastatic colorectal cancer (mCRC), particularly when combined with predictive biomarkers of response. International guidelines recommend anti-EGFR therapy only for RAS (NRAS, KRAS) wild-type tumors because tumors with RAS mutations are unlikely to benefit. Objectives: We aimed to review the cost-effectiveness of RAS testing in mCRC patients before anti-EGFR therapy and to assess how well economic evaluations adhere to guidelines. Methods: A systematic review of full economic evaluations comparing RAS testing with no testing was performed for articles published in English between 2000 and 2018. Study quality was assessed using the Quality of Health Economic Studies scale, and the British Medical Journal and the Philips checklists. Results: Six economic evaluations (2 cost-effectiveness analyses, 2 cost-utility analyses, and 2 combined cost-effectiveness and cost-utility analyses) were included. All studies were of good quality and adopted the perspective of the healthcare system/payer; accordingly, only direct medical costs were considered. Four studies presented testing strategies with a favorable incremental cost-effectiveness ratio under the National Institute for Clinical Excellence (£20 000-£30 000/QALY) and the US ($50 000-$100 000/QALY) thresholds. Conclusions: Testing mCRC patients for RAS status and administering EGFR inhibitors only to patients with RAS wild-type tumors is a more cost-effective strategy than treating all patients without testing. The treatment of mCRC is becoming more personalized, which is essential to avoid inappropriate therapy and unnecessarily high healthcare costs. Future economic assessments should take into account other parameters that reflect the real world (eg, NRAS mutation analysis, toxicity of biological agents, genetic test sensitivity and specificity)

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

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

Validation of a questionnaire for young women to assess knowledge, attitudes and behaviors towards cervical screening and vaccination against HPV in Italy

Background: Despite knowledge about HPV may be an important determinant for vaccine acceptance and uptake, only few studies have assessed HPV-related knowledge in young females. The aim of this study was to assess the reliability and validity of the questionnaire, in Italian women ≥18 years old, as a tool to examine knowledge, attitudes and behaviors towards screening and vaccination against HPV and reliable source of information. Methods: The questionnaire was administered to 30 girls in anonymous, voluntary and self -administered form with close-ended type of questions, except for the socio-demographic characteristics. It was composed in 3 sections for a total of 69 items. Participation in the study was entirely voluntary and anonymous. Descriptive analyses were performed using frequencies, percentages, and frequency table for categorical variables. Reliability analysis was tested and content validity was evaluated using Cronbach's alpha to check internal consistency and avoid misinterpretation of the results. The study was conducted in 4 Italian cities: Ferrara, Rome, Cassino and Palermo, to represent the different Italian geographical areas and knowledge, attitudes and behaviors towards screening and vaccination against HPV and reliable source of information. Data were collected in October 2010. Statistical analysis was performed with the statistical software for Windows SPSS, version 19.0. Results: The highest value of Cronbach's alpha resulted on 24 items (alpha= 0,774); the addition of other items, one at a time, decreased the value. Cronbach's alpha on all the 3 sections together resulted in a value of 0, 059. Young women generally knew that HPV can cause cervical cancer (93.3%) and genital warts (16.7%) and 76.7% of them recognized Pap-test as a screening tool. The main sources of information about HPV vaccination are represented by magazines / books (33.3%), TV (26.7%), and gynecologists (23.3%). Conclusions: This pilot study demonstrated that a short version of the questionnaire has very good reliability properties in the study and this needs to be taken into account for future studies

PGI12 Organizational and Economic Issues Related to the Introduction of Boceprevir in the Treatment of Patients with Genotype 1 Chronic Hepatitis C in Italy

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A systematic review on the existing screening pathways for Lynch syndrome identification

Background: Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3-5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS. Methods: We performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria for inclusion in this review required that the studies evaluated a structured and permanent screening pathway for the identification of LS carriers. The effectiveness of the pathways was analyzed in terms of LS detection rate. Results: We identified five eligible studies. All the LS screening pathways started from CRC cases, of which three followed a universal screening approach. Concerning the laboratory procedures, the pathways used immunohistochemistry and/or microsatellite instability testing. If the responses of the tests indicated a risk for LS, the genetic counseling, performed by a geneticist or a genetic counselor, was mandatory to undergo DNA genetic testing. The overall LS detection rate ranged from 0 to 5.2%. Conclusion: This systematic review reported different existing pathways for the identification of LS patients. Although current clinical guidelines suggest to test all the CRC cases to identify LS cases, the actual implementation of pathways for LS identification has not been realized. Large-scale screening programs for LS have the potential to reduce morbidity and mortality for CRC, but coordinated efforts in educating all key stakeholders and addressing public needs are still required