Definitions of genetic testing in European legal documents.
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ABSTRACT:
SUBMITTER: Varga O
PROVIDER: S-EPMC3312943 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description: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.
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Project description:Several large clinical trials are underway to discover therapies to delay or prevent the onset of dementia caused by Alzheimer's disease (AD). A common feature of these trials is that they are testing therapies in people who do not yet have changes in memory or thinking-that is, who are cognitively unimpaired-but who have a biologically defined risk of developing dementia caused by AD. When these trials eventually succeed, it is reasonable to expect the widespread adoption of biomarker and genetic testing of cognitively unimpaired individuals into clinical practice, as well as treatment prescribed to individuals at heightened risk. Here, we report results from two qualitative studies that sought to understand with whom, why, and how individuals share their AD biomarker and genetic testing results, respectively. We found that sharing is common within the confines of close relationships. However, when sharing outside such relationships, people have multiple concerns, including stigma and discrimination. These concerns highlight the need for additional legal protections and policy changes in anticipation of the coming transformation of AD clinical care.
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Project description:"Hyperactivity" has a wide prevalence range of 31% to 80% in the anorexia nervosa literature that could be partly due to the plethora of definitions provided by researchers in this field. The purpose of this study was two-fold: 1) To assess the variance across prevalence rates of problematic exercise encountered in patients with anorexia nervosa, in relation to seven different definitions found in the literature. 2) To examine how core eating disorder symptoms and the dimensions of emotional profile are associated with these different definitions and the impact of these definitions on the assessment of patients' quality of life. Exercise was evaluated in terms of duration, intensity, type and compulsion using a semi-structured questionnaire administered to 180 women suffering from severe anorexia nervosa. Seven different definitions of problematic exercise were identified in the literature: three entailing a single dimension of problematic exercise (duration, compulsion or intensity) and four combining these different dimensions. Emotional profile scores, obsessive-compulsive symptoms, eating disorder symptomatology, worries and concerns about body shape, self-esteem and quality of life were assessed using several established questionnaires. The prevalence of problematic exercise varied considerably from, 5% to 54%, depending on the number of criteria used for its definition. The type and level of eating disorder symptomatology was found to be associated with several definitions of problematic exercise. Surprisingly, a better self-reported quality of life was found among problematic exercisers compared to non-problematic exercisers in three of the definitions. The different definitions of problematic exercise explain the broad prevalence ranges and the conflicting associations generally reported in the literature between problematic exercise and eating disorder-related psychological parameters. There is an urgent need for a valid consensus on the definition of problematic exercise in anorexia nervosa. This will support the development of further research on the etiology and treatment of problematic exercise.
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Project description:BackgroundThe increasing availability of Direct-to-Consumer Genetic Tests (DTC-GTs) has great implications for public health (PH) and requires literate healthcare professionals to address the challenges they pose. We designed and conducted a survey to assess the state of knowledge, attitudes and behaviours of PH professionals members of the European Public Health Association (EUPHA) towards DTC-GTs.MethodsEUPHA members were invited to participate and fill in the survey. We performed multivariable logistic regression to evaluate associations between selected covariates and knowledge, attitudes and behaviours of healthcare professionals towards DTC-GT.ResultsThree hundred and two professionals completed the survey, 66.9% of whom were not involved in genetics or genomics within their professional activities. Although 74.5% of respondents were aware that DTC-GTs could be purchased on the web, most of them reported a low level of awareness towards DTC-GTs applications and regulatory aspects. The majority did not approve the provision of DTC-GTs without consultation of a healthcare professional (91.4%), were doubtful about the test utility and validity (61%) and did not feel prepared to address citizens' questions (65.6%). Predictors of knowledge on DTC-GT were the involvement in genetics/genomics and receiving training during the studies (P < 0.0001 and P = 0.043). Predictors of attitudes were medical degree and knowledge about DTC-GTs (P = 0.006 and P = 0.027).ConclusionsOur results revealed a high level of awareness of DTC-GT web purchasing and a moderate to low level of awareness towards their applications. Despite the overall positive attitudes, PH professionals reported a high need for strengthening regulatory aspects of DTC-GTs provision process.
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Project description:ObjectiveTo develop a nationally applicable tool for assessing the quality of informed consent documents for elective procedures.DesignMixed qualitative-quantitative approach.SettingConvened seven meetings with stakeholders to obtain input and feedback on the tool.ParticipantsTeam of physician investigators, measure development experts, and a working group of nine patients and patient advocates (caregivers, advocates for vulnerable populations and patient safety experts) from different regions of the country.InterventionsWith stakeholder input, we identified elements of high-quality informed consent documents, aggregated into three domains: content, presentation and timing. Based on this comprehensive taxonomy of key elements, we convened the working group to offer input on the development of an abstraction tool to assess the quality of informed consent documents in three phases: (1) selecting the highest-priority elements to be operationalised as items in the tool; (2) iteratively refining and testing the tool using a sample of qualifying informed consent documents from eight hospitals; and (3) developing a scoring approach for the tool. Finally, we tested the reliability of the tool in a subsample of 250 informed consent documents from 25 additional hospitals.OutcomesAbstraction tool to evaluate the quality of informed consent documents.ResultsWe identified 53 elements of informed consent quality; of these, 15 were selected as highest priority for inclusion in the abstraction tool and 8 were feasible to measure. After seven cycles of iterative development and testing of survey items, and development and refinement of a training manual, two trained raters achieved high item-level agreement, ranging from 92% to 100%.ConclusionsWe identified key quality elements of an informed consent document and operationalised the highest-priority elements to define a minimum standard for informed consent documents. This tool is a starting point that can enable hospitals and other providers to evaluate and improve the quality of informed consent.
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