The Resource Addressing challenges in genetic test evaluation : evaluation frameworks and assessment of analytic validity, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute Evidence-based Practice Center ; investigators, Fang Sun ... [et al.], (electronic resource)

Addressing challenges in genetic test evaluation : evaluation frameworks and assessment of analytic validity, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute Evidence-based Practice Center ; investigators, Fang Sun ... [et al.], (electronic resource)

Label
Addressing challenges in genetic test evaluation : evaluation frameworks and assessment of analytic validity
Title
Addressing challenges in genetic test evaluation
Title remainder
evaluation frameworks and assessment of analytic validity
Statement of responsibility
prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute Evidence-based Practice Center ; investigators, Fang Sun ... [et al.]
Contributor
Subject
Language
  • eng
  • eng
Summary
OBJECTIVES: This project pursued four objectives related to genetic testing: (1) assess the feasibility of clarifying a set of evaluation frameworks for common testing scenarios; (2) recommend a systematic approach to literature search for evaluating analytic validity; (3) assess the feasibility of clarifying an optimal quality rating instrument for analytic validity studies; and (4) identify existing gaps in evidence on analytic validity and recommend approaches to fill the gaps. METHODS: The main approach to meet these objectives was to organize an expert Workgroup to seek input and build consensus on key issues. These experts represented major stakeholders and were engaged through meetings and teleconferences. To facilitate the discussions among the experts, targeted reviews of pertinent literature were performed to identify current literature search strategies, quality-rating schemas, and evaluation frameworks. The project used case-studies of selected tests to focus discussion in the Workgroup meetings. The Workgroup experts served as sources of information, reviewed the preliminary findings of the targeted reviews, reached consensus on key issues, and helped to shape the report. RESULTS: This study found that different stakeholders are likely to use different frameworks for evaluating genetic tests. However, the Workgroup agreed that starting from the patient's perspective made sense for most situations, with adaptations as necessary. Consequently, a set of analytic frameworks for common genetic testing scenarios (diagnosis, screening, prognosis assessment, treatment monitoring, pharmacogenetics, risk/susceptibility assessment, and testing involving germline mutations) was developed. This study also suggested a systematic approach to literature searches for identifying analytic validity studies of genetic tests and further proposed an instrument for assessing the quality of the studies identified. The instrument is a checklist of key quality domains relevant to analytic validity studies, including internal validity, reporting quality, and other factors potentially causing bias. Significant gaps were identified in evidence on genetic testing variability. These gaps were caused by multiple factors, such as the unique technical challenges in validating genetic tests and lack of access to currently existing data. CONCLUSIONS: This exploratory study revealed that it is feasible to clarify a set of evaluation frameworks, at least from patients' perspectives, and clarify an instrument for assessing analytic validity studies for evaluating genetic tests. Future effort is required to test these frameworks, validate the instrument, and fill the gaps in evidence on analytic validity for genetic testing
Member of
Cataloging source
DNLM
Funding information
Contract No. HHSA 290-2007-10063-I
Government publication
federal national government publication
Illustrations
illustrations
Index
no index present
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
NLM call number
QZ 52
http://library.link/vocab/relatedWorkOrContributorName
  • Sun, Fang
  • United States
  • ECRI Evidence-based Practice Center
Series statement
  • Methods research reports
  • AHRQ publication
Series volume
no. 1-EHC048-EF
http://library.link/vocab/subjectName
  • Genetic Testing
  • Reproducibility of Results
  • Evaluation Studies
Label
Addressing challenges in genetic test evaluation : evaluation frameworks and assessment of analytic validity, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute Evidence-based Practice Center ; investigators, Fang Sun ... [et al.], (electronic resource)
Instantiates
Publication
Note
"June 2011."
Bibliography note
Includes bibliographical references
Dimensions
unknown
Extent
1 online resource (1 PDF file (1 v. (various pagings)))
Form of item
online
Other physical details
ill.
Specific material designation
remote
System control number
  • 1570747
  • (DNLM)BKSHLF:NBK56750rib1570726
Label
Addressing challenges in genetic test evaluation : evaluation frameworks and assessment of analytic validity, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute Evidence-based Practice Center ; investigators, Fang Sun ... [et al.], (electronic resource)
Publication
Note
"June 2011."
Bibliography note
Includes bibliographical references
Dimensions
unknown
Extent
1 online resource (1 PDF file (1 v. (various pagings)))
Form of item
online
Other physical details
ill.
Specific material designation
remote
System control number
  • 1570747
  • (DNLM)BKSHLF:NBK56750rib1570726

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