Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Kessels, S.; Carter, Drew; Ellery, Benjamin; Newton, Skye; Merlin, Tracy

doi:10.1038/s41436-019-0641-8

Cited by 18 publications

(13 citation statements)

References 61 publications

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“…(16,17) There is an established literature aiming to demonstrate the effectiveness of clinical genetics services, genetic counselling, and genetic testing, and systematic reviews have overall demonstrated a modest positive impact. (1,(18)(19)(20)(21)(22)(23) A problem that has arisen frequently in the genetics literature is comparability across studies, with heterogeneity in the choice of outcomes and method of measurement. Often studies measure the same or similar concepts, such as psychological impact, but vary in the speci c outcome that they report within this broad domain, utilise different measurement tools, and measure the outcome at variable time points.…”

Section: Rgcsmentioning

confidence: 99%

“…Those reviews that address data analysis and risk of bias in their methods, identi ed issues with outcome heterogeneity, study design, and overall quality of evidence, whilst others that didn't speci cally address these issues performed narrative syntheses, which is indicative that a meta-analysis was not possible with the available data. (23,(25)(26)(27)(28) We propose developing a core outcome set (COS) for RGCS. A COS is an agreed minimum set of outcomes that should be measured and reported in all studies on a particular topic.…”

Section: Rgcsmentioning

confidence: 99%

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The Core Outcome Development for Carrier Screening (CODECS) Study: Protocol for Development of a Core Outcome Set

Richardson

McEwen

Newton‐John

et al. 2020

Preprint

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Background: Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention. Objectives: The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice.Methods: In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: i) A systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement ii) A systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes iii) Semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps v) A virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting.Discussion: This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions. COMET core outcome set registration: http://www.comet-initiative.org/Studies/Details/1381

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Section: Rgcsmentioning

confidence: 99%

Section: Rgcsmentioning

confidence: 99%

The Core Outcome Development for Carrier Screening (CODECS) Study: Protocol for Development of a Core Outcome Set

Richardson

McEwen

Newton‐John

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…This also occurred in medical diagnostics , where clinical tests are performed to determine which disease or condition better explains patient’s symptoms and signs, such as the test to measure the prostate-specific antigen (PSA) level [ 63 ], or the genetic test to identify cystic fibrosis [ 41 ], or cellular analysis to detect cell-based diseases such sickle anemia [ 3 ], or tests based on medical imaging to ascertain or rule out the presence of breast cancer [ 59 ].…”

Section: Introductionmentioning

confidence: 99%

Fifty years of Shannon information theory in assessing the accuracy and agreement of diagnostic tests

Casagrande

Fabris

Girometti

2022

Med Biol Eng Comput

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Since 1948, Shannon theoretic methods for modeling information have found a wide range of applications in several areas where information plays a key role, which goes well beyond the original scopes for which they have been conceived, namely data compression and error correction over a noisy channel. Among other uses, these methods have been applied in the broad field of medical diagnostics since the 1970s, to quantify diagnostic information, to evaluate diagnostic test performance, but also to be used as technical tools in image processing and registration. This review illustrates the main contributions in assessing the accuracy of diagnostic tests and the agreement between raters, focusing on diagnostic test performance measurements and paired agreement evaluation. This work also presents a recent unified, coherent, and hopefully, final information-theoretical approach to deal with the flows of information involved among the patient, the diagnostic test performed to appraise the state of disease, and the raters who are checking the test results. The approach is assessed by considering two case studies: the first one is related to evaluating extra-prostatic cancers; the second concerns the quality of rapid tests for COVID-19 detection.

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“…This is most often achieved by measuring the impact of a genetic test on patient outcomes when it is utilised in clinical practice; however, this is acknowledged to be challenging [16,17]. There is an established literature aiming to demonstrate the effectiveness of clinical genetics services, genetic counselling, and genetic testing, and systematic reviews have overall demonstrated a modest positive impact [1,[18][19][20][21][22][23]. A problem that has arisen frequently in the genetics literature is comparability across studies, with heterogeneity in the choice of outcomes and method of measurement.…”

Section: Introductionmentioning

confidence: 99%

“…A small number of systematic reviews have been conducted in the field of RGCS, focusing on carrier screening for specific conditions. Those reviews that address data analysis and risk of bias in their methods identified issues with outcome heterogeneity, study design, and overall quality of evidence, whilst others that did not specifically address these issues performed narrative syntheses, which is indicative that a meta-analysis was not possible with the available data [23,[25][26][27][28].…”

Section: Introductionmentioning

confidence: 99%

The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

Richardson

McEwen

Newton‐John

et al. 2021

Trials

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Background Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention. Objectives The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice. Methods In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting. Discussion This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions. COMET core outcome set registration http://www.comet-initiative.org/Studies/Details/1381.

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Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Cited by 18 publications

References 61 publications

The Core Outcome Development for Carrier Screening (CODECS) Study: Protocol for Development of a Core Outcome Set

The Core Outcome Development for Carrier Screening (CODECS) Study: Protocol for Development of a Core Outcome Set

Fifty years of Shannon information theory in assessing the accuracy and agreement of diagnostic tests

The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

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