NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Addressing Challenges in Genetic Test Evaluation
Methods Research Reports
Investigators: Fang Sun, MD, PhD, Wendy Bruening, PhD, Eileen Erinoff, MSLIS, and Karen M Schoelles, MD, SM, FACP.
Author Information and AffiliationsStructured Abstract
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.
Contents
Prepared for: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services1, Contract No. HHSA 290-2007-10063-I. Prepared by: ECRI Institute Evidence-based Practice Center, Plymouth Meeting, PA
Suggested citation:
Sun F, Bruening W, Erinoff E, Schoelles KM. Addressing Challenges in Genetic Test Evaluation. Evaluation Frameworks and Assessment of Analytic Validity. Methods Research Report (Prepared by the ECRI Institute Evidence-based Practice Center under Contract No. HHSA 290-2007-10063-I.) AHRQ Publication No. 11-EHC048-EF. Rockville, MD: Agency for Healthcare Research and Quality. June 2011. Available at: www.effectivehealthcare.ahrq.gov/reports/final.cfm.
This report is based on research conducted by the ECRI Institute Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. HHSA 290-2007-10063-I). The findings and conclusions in this document are those of the author(s), who are responsible for its content, and do not necessarily represent the views of AHRQ. No statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services.
The information in this report is intended to help clinicians, employers, policymakers, and others make informed decisions about the provision of health care services. This report is intended as a reference and not as a substitute for clinical judgment.
This report may be used, in whole or in part, as the basis for the development of clinical practice guidelines and other quality enhancement tools, or as a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied.
None of the investigators has any affiliations or financial involvement that conflicts with the material presented in this report. In 1990–1992 while an undergraduate student at Massachusetts Institute of Technology (MIT), Dr. Wendy Bruening worked as a member of the team that discovered the Wilms' tumor suppressor gene (WT1). While she does receive royalties from MIT related to the patent the university filed for the gene sequence, she has no control over uses of the gene sequence and no conflict with the material in this report.
- 1
540 Gaither Road, Rockville, MD 20850; www
.ahrq.gov
- NLM CatalogRelated NLM Catalog Entries
- Review Fluorescence In Situ Hybridization (FISH) or Other In Situ Hybridization (ISH) Testing of Uterine Cervical Cells to Predict Precancer and Cancer[ 2013]Review Fluorescence In Situ Hybridization (FISH) or Other In Situ Hybridization (ISH) Testing of Uterine Cervical Cells to Predict Precancer and CancerUhlig K, Earley A, Lamont J, Dahabreh IJ, Avendano EE, Cowan JM, Feldman S. 2013 Feb 16
- Review Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications.[Evid Rep Technol Assess (Full ...]Review Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications.Bonis PA, Trikalinos TA, Chung M, Chew P, Ip S, DeVine DA, Lau J. Evid Rep Technol Assess (Full Rep). 2007 May; (150):1-180.
- Review Technology Assessment on Genetic Testing or Molecular Pathology Testing of Cancers with Unknown Primary Site to Determine Origin[ 2013]Review Technology Assessment on Genetic Testing or Molecular Pathology Testing of Cancers with Unknown Primary Site to Determine OriginMeleth S, Whitehead N, Evans TS, Lux L. 2013 Feb 20
- Review Refinement of the HCUP Quality Indicators[ 2001]Review Refinement of the HCUP Quality IndicatorsDavies SM, Geppert J, McClellan M, McDonald KM, Romano PS, Shojania KG. 2001 May
- Telemedicine for the Medicare population: pediatric, obstetric, and clinician-indirect home interventions.[Evid Rep Technol Assess (Summ)...]Telemedicine for the Medicare population: pediatric, obstetric, and clinician-indirect home interventions.Hersh WR, Wallace JA, Patterson PK, Shapiro SE, Kraemer DF, Eilers GM, Chan BK, Greenlick MR, Helfand M. Evid Rep Technol Assess (Summ). 2001 Aug; (24 Suppl):1-32.
- Addressing Challenges in Genetic Test EvaluationAddressing Challenges in Genetic Test Evaluation
Your browsing activity is empty.
Activity recording is turned off.
See more...