Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis

Abstract

ObjectiveTo understand whether international differences in recommendations of whether to screen for rare diseases using the newborn blood spot test might in part be explained by use of systematic review methods.DesignSystematic review and meta-analysis.Data sourcesWebsite searches of 26 national screening organisations.Eligibility criteria for study selectionJournal articles, papers, legal documents, presentations, conference abstracts, or reports relating to a national recommendation on whether to screen for any condition using the newborn blood spot test, with no restrictions on date or language.Data extractionTwo reviewers independently assessed whether the recommendation for or against screening included systematic reviews, and data on test accuracy, benefits of early detection, and potential harms of overdiagnosis.AnalysisThe odds of recommending screening according to the use of systematic review methods was estimated across conditions using meta-analysis.Results93 reports were included that assessed 104 conditions across 14 countries, totalling 276 recommendations (units of analysis). Screening was favoured in 159 (58%) recommendations, not favoured in 98 (36%), and not recommended either way in 19 (7%). Only 60 (22%) of the recommendations included a systematic review. Use of a systematic review was associated with a reduced probability of screening being recommended (23/60 (38%)v136/216 (63%), odds ratio 0.17, 95% confidence interval 0.07 to 0.43). Of the recommendations, evidence for test accuracy, benefits of early detection, and overdiagnosis was not considered in 115 (42%), 83 (30%), and 211 (76%), respectively.ConclusionsUsing systematic review methods is associated with a reduced probability of screening being recommended. Many national policy reviews of screening for rare conditions using the newborn blood spot test do not assess the evidence on the key benefits and harms of screening.

PROTOCOL: Systematic review of methods to reduce risk of bias in knowledge translation interventional studies in health‐related issues

“…Meta-epidemiology is a method of analysis that adopts the meta-analysis approach to examine the impact of certain characteristics of primary studies on the synthesized measure and provides empirical evidence for hypothesized associations (Bae, 2014). This method tries to investigate the effect of the characteristics of primary studies on the estimated effect of interventions rather than the effect of the intervention itself (Bae, 2014;Murad, 2017;Sian, 2018). For example, it has been shown that independent of the estimated effect of a specific intervention in clinical trials, unblinded trials usually exaggerate the estimated effect of the targeted intervention, compared to blinded trials (Hróbjartsson, 2014).…”

“…Cochrane Collaboration's recommends to present meta-analyses stratified according to risk of bias or using meta-regression to compare results from studies at high and low risk of bias to clarify the effect of risk of bias in the observed results. In the present review, a sort of analysis methods (Bae, 2014;Sian, 2018) would be applied for decomposition of the heterogeneity in KT interventional studies aimed to improve use of evidence in health policymaking.…”

“…Cochrane Collaboration's recommends to present meta‐analyses stratified according to risk of bias or using meta‐regression to compare results from studies at high and low risk of bias to clarify the effect of risk of bias in the observed results. In the present review, a sort of analysis methods (Bae, 2014; Sian, 2018) would be applied for decomposition of the heterogeneity in KT interventional studies aimed to improve use of evidence in health policymaking. For each study, the methodological considerations that contribute to the risk of bias and overall judgement about risk of bias will be considered as intervention and their association with the observed effect of the apprised KT strategy will be explored through the between studies comparisons.…”

The epidemiological characteristics of liver disease in hospitalized children: a 10-year single-center retrospective study

“…A growing number of novel genetic diseases have been added to the list of pediatric liver disease etiologies. However, pediatric liver disease continues to be a major challenge around the world ( 6 ). Certain liver diseases that manifest during childhood serve as antecedents to chronic liver disease, cirrhosis, and hepatocellular carcinoma in adulthood ( 7 ).…”

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

“…Nevertheless, NBS cannot ignore the statement “All screening programmes do harm; some do good as well” [ 13 ]. For example, false positive screening results strain the health system and can trigger short- or long-term psychosocial distress for families (anxiety or vulnerable child syndrome), and NBS may cause overtreatment for mild forms of diseases [ 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. The ongoing expansion of NBS programmes, which is likely to continue as the use of genetic technologies widens, allows more children to benefit from NBS, but also increases the complexity of NBS structures and the number of potential harms, such as false or unclear findings.…”