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Cited by 90Health Systems, Economic Evaluations, Quality of LifeGenomics and Rare DiseasesBRCA gene mutations in cancer

Outcomes of interest in evidence-based evaluations of genetic tests

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Botkin, Jeffrey R., Teutsch, Steven M., Kaye, Celia I., Hayes, Maxine, Haddow, James E., Bradley, Linda A., Szegda, Kathleen, Dotson, W. David·2010·Genetics in Medicine
DOI 10.1097/gim.0b013e3181cdde04
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Abstract

Genetic tests are increasingly available for use in traditional clinical practice settings and through direct-to-consumer marketing. The need for evidence-based information and guidance on their appropriate use has never been more apparent. The independent Working Group of the Evaluation of Genomic Applications in Practice and Prevention Initiative commissions evidence-based reviews and develops recommendations to inform decision making surrounding the implementation of genetic tests and other applications of genomic technologies into clinical practice. A critical component of this analysis involves the identification and appropriate weighting of relevant health outcomes from genetic testing. Impacts of testing on morbidity and mortality are central considerations although research to document such outcomes can be challenging to conduct. In considering the broader impacts of genetic tests on the individual, familial and societal levels, psychosocial outcomes often take on increasing importance, and their systematic evaluation is a challenge for traditional methods of evidence-based review. Incorporating these types of outcomes in evidence-based processes is possible, however, and necessary to extract balanced and complete (or as complete as available data will allow) information on potential benefits and on potential harms. The framework used by the Evaluation of Genomic Applications in Practice and Prevention Working Group in considering, categorizing, and weighting health-related outcomes as applied to genomic technologies is presented here.

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Authors
Botkin, J. R., Teutsch, S. M., Kaye, C. I., Hayes, M., Haddow, J. E., Bradley, L. A., Szegda, K., & Dotson, W. D.
Affiliations
  • University of Utah (US)
  • Los Angeles County Department of Public Health (US)
  • University of Colorado Anschutz (US)
  • Washington State Department of Health (US)
  • Brown University (US)
  • Centers for Disease Control and Prevention (US)
  • Baystate Medical Center (US)
Corresponding author
Botkin, Jeffrey R.
ORCID
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2010-04
Volume
12
Issue
4
Pages
228-235
ISSN
1098-3600 (ISSN-L)
DOI
10.1097/gim.0b013e3181cdde04
OpenAlex
W1984477277
Cited by
90
References
55
Citations by year
2025: 3 · 2024: 3 · 2022: 6 · 2021: 3 · 2020: 6 · 2019: 5 · 2018: 3 · 2017: 6 · 2016: 8 · 2015: 11 · 2014: 5 · 2013: 7 · 2012: 14
FWCI
22.54
Type
journal article
Language
en
Open access
Licence
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Health Systems, Economic Evaluations, Quality of Life
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords
genetic testing, genomic technologies, health outcomes, psychosocial outcomes, benefits and harms, direct-to-consumer genetic testing, evidence-based recommendations
MeSH terms
Genetic Testing, Humans, National Health Programs, Risk Factors, United States, Outcome Assessment, Health Care, Risk Assessment, Evidence-Based Medicine, Genetic Predisposition to Disease, Genome-Wide Association Study

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