. "4 Current Practices in Moving from Evidence to Decision." Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary. Washington, DC: The National Academies Press, 2009.
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Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary
Committee for addition to the uniform screening panel, there is a nomination form on the Committee’s website. Completed forms are sent to the Maternal and Child Health Bureau staff for technical review, then to the Advisory Committee for evidence review. The Advisory Committee may choose to send the nomination to the Evidence Review Workgroup to carry out a more in-depth evidence review for that particular condition. The workgroup then reports back through the Maternal and Child Health Bureau to the Advisory Committee, which then makes its recommendations to the Secretary of Health and Human Services.
The questions on the nomination form address the incidence, timing of clinical onset, and severity of the condition, as well as the modalities available for testing, clinical and laboratory validation of the test, confirmatory testing, and risks of screening and of treatment.
Evidence reviews for most of the conditions that are considered for newborn testing are impacted by issues of rarity, and therefore limited evidence, and issues of where the evidence may be. These conditions often affect one in 10,000 live births, but many conditions affect closer to one in 100,000, or one in 200,000 births. In most cases, there are no randomized controlled trials (RCTs) available, and correspondingly, data for review of effective treatments will typically come from comparative case series. The rarity of cases and the severity of most of these conditions make RCTs very unlikely in the future. There is limited information on costs and benefits across all potential outcomes (including true and false positives and negatives). Access to any evidence that does exist can also present a challenge. In the case of relatively rare diseases, there may be a moderate amount of unpublished data. There may be valuable data from Food and Drug Administration- (FDA-) regulated trials, and proprietary data from companies involved in producing treatments for particular childhood conditions.
Evidence Review Questions
When the Advisory Committee sends a condition to the Evidence Review Workgroup, the first step is to consider the rationale and the objective provided on the nomination form. Issues that are most critical are whether there are prospective pilot data regarding population-based assessments; whether the spectrum of disease is well characterized; whether there is a screening test capable of identifying the condition; and whether treatment is well described. The next step is reviewing any recent changes in treatment and/or screening.
To assess the evidence, the workgroup again reviews the condition and the test. The workgroup determines if the condition is well defined, what is known about the prevalence and incidence of the condition, and what is known about the natural history of the disease, including clinically impor-