An Evidence Framework for Genetic Testing (2017) / Chapter Skim
Currently Skimming:
Summary
Summary
Pages 1-12
The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.
From page 1... ...
The committee is to provide recommendations to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, the committee will recommend a framework to DoD for decision making regarding the use of genetic tests in clinical care.
|
From page 2... ...
The committee organized its analysis around the purpose of the test, using the categories of diagnostic, predictive, and reproductive. Diagnostic Genetic Testing Diagnostic genetic testing is used to identify or rule out a specific genetic condition.
|
From page 3... ...
For example, if a woman who has breast cancer is found to have a BRCA1 variant, indicating a hereditary breast–ovarian cancer syndrome, her relatives can be offered the option of being tested to determine whether they carry the variant. Similarly, predictive genetic tests can be used for population screening, notably in the case of newborn screening, which involves testing infants a few days after birth for evidence of treatable diseases that are known to be detrimental to health or development.
|
From page 4... ...
In addition, the rapid development of genomic technology and the many remaining uncertainties about the health implications of genetic risk raise ethical considerations related to health care disparities, clinical data sharing, and the scope of result reporting from genome-scale testing. ASSESSMENT OF GENETIC TESTS Many of the available methods for assessing genetic tests cover the three common domains of evaluation: analytic validity, clinical validity, and clinical utility.
|
From page 5... ...
Although an RCT is the ideal study design for assessing many aspects of clinical utility, the level of evidence sufficient to evaluate clinical utility might depend on the specific clinical indication, the clinical setting, and the perceived value of potential outcomes of the genetic test itself. Thus, there are challenges to evidence-based decision making around the use of genetic tests, including the paucity of the types of research studies on which evidence-based medical decisions depend, which are exacerbated by the accelerated development of new tests, variants, and technologic discoveries.
|
From page 6... ...
6 AN EVIDENCE FRAMEWORK FOR GENETIC TESTING TABLE S-1 Comparison of Frameworks Method Purpose Approach Strengths Weaknesses USPSTF Preventive Formal analytic Formal grading system Focus on preventive interventions in framework; evidence incorporating services results in a primary care assessment related to evaluation of benefits focus on clinical-utility key questions to and harms and rating outcomes that are not establish a "chain of of evidence relevant to all clinical evidence" applications Fryback– General medical-test Hierarchic Allows an evaluator to Lacks a formal Thornbury assessment representation of determine what evidence-based levels of efficacy for evidence types need to assessment procedure medical tests be assessed for a given test purpose or desired outcome ACCE Analytic process for Standard set of 44 Provides a highly Does not provide details evaluating evidence questions that are granular approach to on evaluating the on genetic tests organized according assessing different strength of evidence; to different evidence evidence types developed for single types (analytic gene tests and may be validity, clinical difficult to extend to validity, clinical multigene panels or utility, ELSI) genome-scale sequencing tests EGAPP Systematic approach Hybrid approach Flexibility to evaluate Focus on single-gene to evidence-based using analytic different "topics" in tests may be difficult to assessment of framework similar to genetic testing, extend to broader genetic tests USPSTF and including a wide array genomic technologies evaluation of of potential outcomes evidence types of interest, and articulated by ACCE integration of formal evidence-based reviews GETT Structure for List of 72 defined Helps stakeholders to Does not provide details systematic items grouped into determine whether on evaluating the identification and categories knowledge base is strength of evidence; organization of sufficient for genetic- developed for single published evidence technology assessment gene tests and may be on genetic testing difficult to extend to multigene panels or genome-scale sequencing tests McMaster Evaluation model to Combines technology Defines criteria for Developed for the University guide public assessment with determining coverage, Canadian health system; coverage for new coverage decision anticipates the need lacks a formal evidence predictive genetic making from payer's for payers to identify based assessment tests in Ontario, perspective evidentiary thresholds, procedure Canada and considers conditional coverage scenarios
|
From page 7... ...
In addition, access to long-term follow-up data on a particular population and its experience with genetic tests could be a valuable resource to generate evidence of clinical utility. Full participation of the large DoD TRICARE population in evidence repositories (such as ClinVar)
|
From page 8... ...
NOTES: This framework is a guide to help an evaluator reach a decision regarding genetic tests informed by evidence. It guides a user through seven steps to (1)
|
From page 9... ...
If a decision has already been made about the use of one genetic test in a particular clinical scenario (considering the population and the purpose of testing) , decisions about the use of other genetic tests in the same test scenario, or decisions about the use of the same test in a different clinical scenario, could be streamlined.
|
From page 10... ...
The decision process will incorporate the preceding evidence review and contextual factors such as social issues, potential harms, or benefit/cost considerations and result in either a "YES" or "NO" decision regarding coverage. In the absence of direct evidence for many genetic tests, decision makers must decide the acceptable level of uncertainty for their purposes.
|
From page 11... ...
. For genetic test scenarios that undergo a formal evidence review, the details of the process and the evidentiary thresholds required by DoD will provide transparency to the process and allow identification of evidence gaps that can be addressed by research.
|
From page 12... ...
The committee recommends a decision framework, as described in the text above, for the use of genetic tests in clinical care: 1. Define genetic test scenarios on the basis of the clinical setting, the purpose of the test, the population, the outcomes of interest, and comparable alternative methods.
|
Key Terms
This material may be derived from roughly machine-read images, and so is provided only to facilitate research.
More
information on Chapter Skim is available.