An Evidence Framework for Genetic Testing (2017) / Chapter Skim
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Appendix C: Using Evidence to Inform Clinical and Policy Decisions
Appendix C: Using Evidence to Inform Clinical and Policy Decisions
Pages 101-110
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. Some examples of groups that conduct evidence assessments for genetic tests and make decisions based on those assessments in the form of clinical practice guidelines and recommendations include the Agency for Healthcare Research and Quality (AHRQ)
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. AHRQ's stepwise process for conducting systematic reviews of medical tests includes developing the topic and structuring the review, searching and collecting evidence, assessing the quality and applicability of individual studies, grading the body of evidence, and synthesizing the evidence.
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The framework helps to construct a "chain of evidence" to link several pieces of evidence to answer questions about the effectiveness of a test because there is little evidence that directly answers questions about effectiveness of genetic tests. Additionally, this means that observational studies, which are not designed to address effectiveness, must be assessed (Teutsch et al., 2009)
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ACMG has issued many clinical practice guidelines, including 28 that the organization currently supports. The guidelines, all published since 2001, range in topic (e.g., by disease or by clinical service or technology)
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, they follow a standardized format, and are publicly available. The kinds of evidence considered when assessing the relationship between genotype and response to a drug might include "randomized clinical trials with pharmacogenetic-based prescribing versus dosing not based on genetics; pre-clinical and clinical studies demonstrating that drug effects or concentration are linked to functional pharmacogenetic loci; case studies associating rare variants with drug effects; in vivo pharmacokinetic/pharmacodynamics studies for drug or reference drug plus variant type; and in vitro metabolic and/or transport capacity for the drug plus variant type." As true for other kinds of genetic tests, randomized controlled trials (RCTs)
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NSGC issues guidelines and resources for clinical practice pertaining to access, assessment, and delivery of genetic counseling services. They also provide guidance on the use of genetic information in health care, such as for disease screening, predictive testing, disease diagnosis, or treatment.
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Low Low confidence that the available evidence reflects the true magnitude and direction of the net effect. Further research may change the magnitude and/or direction of this net effect.
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Centers for Medicare & Medicaid Services Pertaining to assessment of genetic tests, CMS requires that they meet the medically reasonable and necessary criteria, and a test must demonstrate clinical utility and analytic validity/clinical validity. For tests undergoing a traditional review, MolDX3 will review only tests for which the best study showing evidence of clinical utility submitted is at least a retrospective data model or better (such as, prospective observational study, prospectiveretrospective trials, and randomized prospectively controlled trials)
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) is as follows: well-controlled trials of clinically meaningful end points, with scientifically valid data that are published in refereed medical literature published formal technology assessments published reports of national or professional medical associations published reports of national medical policy organization positions published reports of national expert opinion organizations abstracts, anecdotal evidence, and personal professional opinion are specifically not included (DoD, 2015)
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. In addition to peer-reviewed studies published in medical journals, payers consider reviews of published studies on a particular topic, such as those conducted by the AHRQ; evidence-based consensus statements or guidelines from professional societies or other nationally recognized health care organizations, such as ASCO (IOM, 2015)
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