Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach

Andermann, Anne; Blancquaert, Ingeborg; Beauchamp, Sylvie; Costea, Irina

doi:10.1159/000272898

Cited by 53 publications

(37 citation statements)

References 35 publications

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“…6,7,9 A successful screening program requires clear guidelines for accurate measurement (which are available from the Fetal Medicine Foundation 8 and International Society of Ultrasound in Obstetrics and Gynaecology 9 ), an accurate locally relevant reference range (several are described in the international literature, but none in Australia), agreement on what defines a high-risk group (using either fixed CL cut-offs or likelihood ratios), 10-12 a reliable intervention for those considered to be at increased risk of PTB, and an appropriate quality assurance process to maintain consistency of measurement and minimize potential harms through screening. 6,13,14 CL screening has these elements in place, but a co-ordinated quality assurance process has not yet been developed in Australia, a deficiency identified in a recent review by Pedretti et al 7 The aims of the present study were to create a TVCL reference range in an urban Australian obstetric population at 18-21 weeks' gestation, and to develop and validate auditable standards for CL measurement, using quality assurance measures previously validated in nuchal translucency and uterine artery pulsatility index assessment. [15][16][17]…”

Section: Introductionmentioning

confidence: 99%

Developing a quality assurance program for transvaginal cervical length measurement at 18–21 weeks’ gestation

Filce

Hyett

Sahota

et al. 2019

Aust NZ J Obst Gynaeco

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Background Preterm birth is the leading cause of death in children under the age of five years. Transvaginal cervical length (TVCL) assessment can be used to predict preterm delivery risk at the mid‐trimester scan. To optimise the screening tool, developing and maintaining quality standards is important. Aims To develop an Australian reference range for TVCL at 18.0–21.0 weeks’ gestation, quality standards for measurement and audit mechanisms for ultrasound operators. Materials and Methods A retrospective audit was performed of consecutive patients scanned at 18.0–21.0 weeks’ gestation. Each TVCL measurement ultrasound image was reviewed, and exclusions were made based on a defined set of quality criteria. Fractional polynomial Bayesian methodology was used to establish a reference range. Central tendency, dispersion plots and cumulative sum charts for operators in the original reference range cohort were created. These plots were then applied to a second validation cohort of operators to establish the efficacy of this quality assurance audit tool. Results Median TVCL from 1031 participants was 36.0 mm (interquartile range 32.7–40.0 mm), which was independent of gestational age. The quality audit tool was applied to 15 operators from the reference cohort with a mean cervix length multiple of the median of 1.01 and a mean SD log10 cervix length multiple of the median of 0.06. Of the 22 operators in the validation cohort, 20 (90.9%) demonstrated ideal or acceptable central tendency results, and 19 (86.4%) remained in the appropriate cumulative sum zone. Conclusion An Australian cervix length measurement reference range at 18.0–21.0 weeks’ gestation has been developed along with a validated quality assurance audit tool for ultrasound operators.

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Section: Introductionmentioning

confidence: 99%

Developing a quality assurance program for transvaginal cervical length measurement at 18–21 weeks’ gestation

Filce

Hyett

Sahota

et al. 2019

Aust NZ J Obst Gynaeco

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“…Programme effectiveness, quality assurance and programme evaluation have been suggested as amendments to the Wilson and Jungner criteria [9,10]. …”

Section: Introductionmentioning

confidence: 99%

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Lindner

Gramer

Haege

et al. 2011

Orphanet J Rare Dis

145

125

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BackgroundNational newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome.MethodsIn a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated.ResultsOptimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two.ConclusionsPhysical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria, used as a gold standard for NBS. Extended NBS entails many different interrelated variables which need to be carefully evaluated and optimized. More reports from different parts of the world are needed to allow a comprehensive assessment of the likely benefits, harms and costs in different populations.

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“…Three of the most recently published sets of principles showed further evolution. In the context of genetic screening, Andermann and colleagues added a number of subcategorizations to a distinct overarching structure (i.e., laboratory testing, clinical services and program management); 43 Martin-Moreno and colleagues used 4 health system elementsgovernance, finance, resource generation and service deliveryto organize their approach to cancer-screening decisions; 46 and the most recent screening principles from the UK National Screening Committee added a fifth category for implementation criteria. 51 The citation analysis showed many apparent inconsistencies in the evolution of the documented screening principles we identified in the review.…”

Section: Resultsmentioning

confidence: 99%

Consolidated principles for screening based on a systematic review and consensus process

Dobrow

Hagens

Chafe

et al. 2018

CMAJ

235

214

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MethodsWe employed a systematic review to identify, synthesize and consolidate existing principles of screening, followed by a modified Delphi consensus process with international screening RESEARCH Consolidated principles for screening based on a systematic review and consensus process Jungner published 10 principles of screening that often represent the de facto starting point for screening decisions today; 50 years on, are these principles still the right ones? Our objectives were to review published work that presents principles for population-based screening decisions since Wilson and Jungner's seminal publication, and to conduct a Delphi consensus process to assess the review results. METHODS:We conducted a systematic review and modified Delphi consensus process. We searched multiple databases for articles published in English in 1968 or later that were intended to guide population-based screening decisions, described development and modification of principles, and presented principles as a set or list. Identified sets were compared for basic characteristics (e.g., number, categorization), a citation analysis was conducted, and principles were iteratively synthesized and consolidated into categories to assess evolution. Participants in the consensus process assessed the level of agreement with the importance and interpretability of the consolidated screening principles. RESULTS:We identified 41 sets and 367 unique principles. Each unique principle was coded to 12 consolidated decision principles that were further categorized as disease/condition, test/intervention or program/system principles. Program or system issues were the focus of 3 of Wilson and Jungner's 10 principles, but comprised almost half of all unique principles identified in the review. The 12 consolidated principles were assessed through 2 rounds of the consensus process, leading to specific refinements to improve their relevance and interpretability. No gaps or missing principles were identified. INTERPRETATION:Wilson and Jungner's principles are remarkably enduring, but increasingly reflect a truncated version of contemporary thinking on screening that does not fully capture subsequent focus on program or system principles. Ultimately, this review and consensus process provides a comprehensive and iterative modernization of guidance to inform population-based screening decisions.HEALTH SERVICES

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Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach

Cited by 53 publications

References 35 publications

Developing a quality assurance program for transvaginal cervical length measurement at 18–21 weeks’ gestation

Developing a quality assurance program for transvaginal cervical length measurement at 18–21 weeks’ gestation

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Consolidated principles for screening based on a systematic review and consensus process

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