The evaluation of genetic tests

Zimmern, Ron; Kroese, Mark

doi:10.1093/pubmed/fdm028

Cited by 42 publications

(34 citation statements)

References 24 publications

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“…Both of these questions relate to the clinical evidence used to establish the test’s potential to achieve its intended purpose. A number of other measures, related to its acceptability, cost and feasibility, are also important in evaluating a test’s clinical utility (table 1) [12,13,14]. …”

Section: Evidence Thresholds For Genetic Test Usementioning

confidence: 99%

Debating Clinical Utility

Burke

Laberge

Press

2010

Public Health Genomics

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The clinical utility of genetic tests is determined by the outcomes following test use. Like other measures of value, it is often contested. Stakeholders may have different views about benefits and risks and about the importance of social versus health outcomes. They also commonly disagree about the evidence needed to determine whether a test is effective in achieving a specific outcome. Questions may be presented as factual disagreements, when they are actually debates about what information matters or how facts should be interpreted and used in clinical decision-making. Defining the different issues at stake is therefore an important element of policy-making. Key issues include evidence standards for test use, and in particular, the circumstances under which prospective controlled data should be required, as well as evidence on feasibility, cost and equitable delivery of testing; the goals of population-based screening programs, and in particular, the role of social outcomes in evaluating test value; and the appropriate uses and funding of tests that inform non-medical actions. Addressing each of these issues requires attention to stakeholder values and methods for effective deliberation that incorporate consumer as well as health professional perspectives.

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Section: Evidence Thresholds For Genetic Test Usementioning

confidence: 99%

Debating Clinical Utility

Burke

Laberge

Press

2010

Public Health Genomics

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“…Although genetic testing for multifactorial diseases might improve for a certain degree, and become more useful for clinical purposes in the future, but now, there are certain barriers that should be also recognized when assessing the ELSI of genetic information. As Zimmern concludes: ''The current limited understanding of genegene and gene-environment interactions involved in the development of complex disorders continues to be a barrier to the development of valid predisposition or susceptibility tests for these conditions'' [40]. Some argue that except some cases (like BRCA 1 or 2), testing for individual gene variants will be of low predictive value.…”

Section: The Impact Of the Misunderstood Gene On Bioethical Discoursementioning

confidence: 99%

“…Some argue that except some cases (like BRCA 1 or 2), testing for individual gene variants will be of low predictive value. There is a considerable debate as to ''whether testing for these variants, even in combination using technologies such as microarrays, will ever be useful in the clinical situation'' [40]. The fact that in the case of monogenic diseases with high penetrance genetic tests could serve better and more precise prediction should be interpreted beyond a genetic exceptionalist framework.…”

Section: The Impact Of the Misunderstood Gene On Bioethical Discoursementioning

confidence: 99%

Gene Concepts and Genethics: Beyond Exceptionalism

Kakuk

2008

Sci Eng Ethics

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The discursive explosion that was provoked by the new genetics could support the impression that the ethical and social problems posed by the new genetics are somehow exceptional in their very nature. According to this view we are faced with special ethical and social problems that create a challenge so fundamental that the special label of genethics is needless to justify. The historical account regarding the evolution of the gene concepts could serve us to highlight the limits of what we know about genes and what we can do with genes. The widespread notion about the exceptionality of genetic knowledge and its applicative possibilities is hardly justifiable and leads to misunderstandings regarding the conceptualization of the ethical and social problems we might face. Following a more realistic interpretation of the role of genes in human life we might avoid a whole set of fictive dilemmas and counterproductive regulatory efforts in bioethics. Bioethical discourse should move from the gene-centered scientific discourse toward the more sophisticated and complex discourses where human development represented as a matter of complex interactions between genomes and environments, between genes, educational factors, nutritional regimes, and other different developmental resources. If a gene is seen as one among the different developmental resources that are shaping a given human trait then both genethics and genetic exceptionalism could hardly be represented as a justified approach in discussing the ethical and social problems of genetics.

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“…The third factor that has a bearing on test interpretation and evaluation is population and, in particular, the effect that the disease prevalence in the studied population critically affects the test's predictive value. 2 The term 'biomarker' is often used in this context rather than diagnostics or diagnostic tests. It has been more broadly defined by the Food and Drug Administration as a characteristic that is objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.…”

mentioning

confidence: 99%

“…Each test is likely to need evaluation and interpretation depending on how the test is to be used in the particular context of disorder, population and purpose. 2 …”

mentioning

confidence: 99%