Genetic Testing in Emerging Economies (GenTEE)

Drivers, barriers and opportunities for genetic testing services in emerging economies: the GenTEE (Genetic Testing in Emerging Economies) project Background: Due to the epidemiological transition in the emerging economies of China, East Asia, India, Latin America, the Middle East and South Africa, these economies are facing (i) an increasing proportion of morbidity and mortality due to congenital and genetic conditions, (ii) a rising need for genetic services to improve patient outcomes and overall population health. These economies are facing the challenge how: (i) to ensure the successful translation of genetic/genomics laboratory and academic research into quality assured pathways, (ii) to develop a service delivery infrastructure that leads to equitable and affordable access to high quality genetic/genomic testing services. Objectives: (i) to document and compare current practices and the state of genetic service provision in eight emerging economies: Argentina, Brazil, China, Egypt, India, Oman, Philippines and South Africa, (ii) to identify current knowledge gaps and unmet service needs. The GenTEE international project is intended to inform policy decisions for the challenges of delivering equitable high quality genetic services and to promote international collaboration for capacity building. Methods: (i) a standardized survey that is the first of its worldwide that allows comparison of services internationally across a number of key dimensions by using a core set of indicators, selected by the GenTEE consortium for their relevance and comparability, (ii) capacity building demonstration projects. To date, the GenTEE project has completed its survey that maps the current state of genetic services in the participating countries and identifies current drivers, barriers and opportunities for genetic services development. Results: There is no equitable access to genetic services in all countries mainly due to financial barriers (underfunded fragmented public services, out-of-pocket expenses tend to be the norm for genetic testing services), geographical barriers (concentration of services in main cities) and skill gaps, resulting in inequitable services or delayed access. The development of services in the private sector is opportunistic and mostly technology and market driven. There is a marked lack of standard operating procedures and agreed quality assessment processes for new technologies. Discussion: International collaborative networks can provide support for capacity building and help to strengthen the provision of quality genetic/genomic services in emerging economies.JRC.I.1-Chemical Assessment and Testin

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports

In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislators and regulating agencies and the civil society in general, particularly when genetic testing is the object of guidelines or legal documents. This work compares definitions of genetic testing found in recommendations, guidelines and reports from international institutions, policy makers and professional organizations, but also in documents from other stakeholders in the field, as the pharmaceutical industry, insurers, ethics bodies, patient organizations or human-rights associations. A systematic review of these documents confirmed the extreme variability existing in the concepts and the ambiguous or equivocal use of the term. Some definitions (narrower) focus on methodologies or the material analysed, while others (broader) are information- or context-based. Its scope may range from being synonymous of just DNA analysis, to any test that yields genetic data. Genetic testing and genetic information, which may be derived from a range of medical exams or even family history, are often used interchangeably. Genetic testing and genetic screening are sometimes confused. Human molecular genetics (a discipline) is not always distinguished from molecular biology (a tool). Professional background, geographical context and purpose of the organizations may influence scope and usage. A common consensus definition does not exist. Nevertheless, a clear set of precise definitions may help creating a common language among geneticists and other health professionals. Moreover, a clear context-dependent, operative definition should always be given

Scope of definitions of genetic testing: evidence from a EuroGentest survey

Genetic testing is a term used in different settings, often with very different meanings. There are only very few studies published about the various possible definitions of “genetic testing”, and evidence is lacking from its use in professional practise. The need for precise definitions is particularly felt when producing legislation, policy recommendations or professional guidelines. EuroGentest Unit 3 (Clinical, Community and Public Health Genetics) had, as one of its objectives, to analyse definitions of “genetic testing” and propose consensus working definitions, if possible. To assess what was meant when using this term, in each individual professional context, a questionnaire was developed to evaluate if a consensus definition was desirable and achievable and what items or information should be included in the scope of such a definition. The questionnaire was sent to all EuroGentest partners and other registered users of its website; 135 answers were received, a response rate of 22%. The need for a consensus definition was acknowledged by the vast majority, although there was much less concordance about the possibility of attaining one. Clinical geneticists were the most supportive for context-dependent definitions. Conflicting perspectives arose, however, when discussing the inclusion of some type of tests, material or technology used. At issue seemed to be the distinction between the concepts of genetic material-based testing and genetic information

Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

PURPOSE: A scale assessing primary care physicians' priorities for genetic education (The Gen-EP scale) was developed and tested in five European countries. The objective of this study was to determine its factor structure, to test scaling assumptions and to determine internal consistency. METHODS: The sample consisted of 3686 practitioners (general practitioners, gyneco-obstetricians, pediatricians) sampled in France, Germany, the Netherlands, Sweden, and United Kingdom. We first determined the factor structure of the Gen-EP scale (30 items) on the whole sample. Scaling assumptions were then tested on each country using multitrait scaling analysis. Internal consistency was assessed across the five countries. RESULTS: Six factors were identified accounting for 63.3% of the variance of the items. They represented the following priorities for genetic education: "Genetics of Common Diseases"; "Ethical, Legal, and Public Health Issues"; "Approaching Genetic Risk Assessment in Clinical Practice"; "Basic Genetics and Congenital Malformations"; "Techniques and Innovation in Genetics" and "Psychosocial and Counseling Issues." In each country, convergent and discriminant validity were satisfactory. Internal-consistency reliability coefficients (Cronbach's α) were all above the acceptable threshold (0.70). CONCLUSION: The Gen-EP scale could be a helpful instrument in different countries to organize and evaluate the impact of genetic educational programs for primary care providers

Genetics in clinical practice: general practitioners' educational priorities in European countries

PURPOSE: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics. METHODS: Cross-sectional survey, random and total samples of GPs in five European countries (France, Germany, the Netherlands, Sweden, and United Kingdom), mailed questionnaires; Outcome: Genetic Educational Priority Scale (30 items; six subscores). RESULTS: A total 1168 GPs answered. Priorities differed (P < 0.001) but were consistently ranked across the countries. Previous education had a marginal effect on priorities. Women gave higher priorities than men to Genetics of Common Disorders (adjusted odds ratio [ORadj], 2.5; 95% confidence interval [CI], 1.6-3.8), Psychosocial and Counseling Issues (ORadj, 1.6; 95% CI, 1.1-2.5), and Ethical, Legal, and Public Health Issues (ORadj, 1.3; 95% CI, 1.1-1.8), but lower than men to Techniques and Innovation in Genetics (ORadj, 0.7; 95% CI, 0.5-0.9). Older physicians gave higher priorities to Basic Genetics and Congenital Malformations (ORadj, 1.5; 95% CI, 1.1-1.9), and to Techniques and Innovation in Genetics (ORadj: 1.3; 95% CI, 1.0-1.7), compared with their younger colleagues. CONCLUSIONS: Expressed genetic educational needs vary according to the countries and sociodemographics. In accordance, training could be more focused on genetics of common disorders and on how to approach genetic risk in clinical practice rather than on ethics, new technologies, or basic concepts