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

ABSTRACT: 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.

SUBMITTER: Sequeiros J

PROVIDER: S-EPMC3312940 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Effective performance of digestion testing methods for Trichinella, and their use for the detection of infected animals and the prevention of human trichinellosis require system-wide incorporation of appropriate quality assurance (QA) practices. The recommendations of the International Commission on Trichinellosis (ICT) aim to facilitate reliable test results when laboratories operate within a quality management system (QMS) which includes: 1) a quality manual (or similar documentation of the QMS); 2) a validated test method with identified critical control points; 3) a training program; 4) procedures utilizing proficiency testing and other methods to confirm technical capability of analysts; 5) equipment calibration and maintenance; 6) standard operating procedures, related documentation and reporting; 7) procedures to enable continuous monitoring and improvements; and 8) regular internal and third party audits. The quality manual or similar documentation describes the QMS within a testing laboratory, and lists the QA policies and good laboratory practices. Quality assurance goals contained in such documentation are the foundation of an effective QA program and must be explicit, measurable, and expressed in terms of performance criteria for the test method based on purpose for testing. The digestion method is capable of consistently detecting Trichinella larvae in meat at a level of sensitivity that is recognized to be effective for use in controlling animal infection and preventing human disease. However, consistent performance of the assay is assured only when parameters of the test method have been defined, scientifically validated as fit for purpose, and used within an effective QMS. The essential components of a digestion assay, specifically the critical control points and minimum standards for test performance are described. Reliable proficiency samples and their appropriate use in a quality system are key factors for certifying and maintaining an effective testing laboratory, including qualifying, re-qualifying and disqualifying of analysts as appropriate. Thus recommendations are included for the preparation and use of proficiency samples in a Trichinella digestion testing laboratory. The minimum training requirements for analysts performing a quality assured digestion assay, as well as suggested requirements for the content of a training manual, are also outlined. Finally, these ICT recommendations include essential components and minimum standards for maintaining and achieving certification and maintenance of a laboratory performing digestion testing for Trichinella. The certification program for the laboratory, including qualifying analysts, may be administered by a National Reference Laboratory or an authorized third party certifying body, under the auspices of the appropriate competent authority.

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

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