What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling

Resta, Robert G.

doi:10.1016/j.ejmg.2018.11.003

Cited by 15 publications

(18 citation statements)

References 46 publications

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“…This issue has been highlighted in research and commentary on the outcomes of genetic testing and genetic counselling and is becoming a focus of many discussions within the eld. (1,18) Another issue noted in genetics research is the propensity for observational study designs due to the challenges of including a comparison group in the clinical setting. Very few studies on RGCS are experimental in design, with only a handful of randomised controlled trials.…”

Section: Rgcsmentioning

confidence: 99%

“…(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%

“…Genetic counselling provided by genetic counsellors includes a number of aspects separate to whether a genetic test is undertaken, for example, facilitating understanding, providing individual and family support, and assisting clients with adjustment to genetic risk. (1) However, aspects of genetic counselling are also undertaken by a range of other health professionals involved in patient care. As the processes of genetic testing and genetic counselling are intricately entwined, so too are the health-related outcomes that are measured in research in this area.…”

mentioning

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%

mentioning

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

View full text Add to dashboard Cite

show abstract

“…Genetic counselling can be performed by genetic counsellors educated at the post-graduate level and regulated by a professional body. Genetic counselling provided by genetic counsellors includes a number of aspects separate to whether a genetic test is undertaken, for example, facilitating understanding, providing individual and family support, and assisting clients with adjustment to genetic risk [1]. However, aspects of genetic counselling are also undertaken by a range of other health professionals involved in patient care.…”

Section: Introductionmentioning

confidence: 99%

“…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%

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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Genetic Counseling

Scherr

2022

The International Encyclopedia of Health Communication

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Clinical genetic counseling is provided through communication between the genetic counselor and the patient. Genetic counseling can support decision making about genetic testing, but genetic counseling may also occur in the absence of testing. For example, genetic counselors can provide psychotherapeutic support for patients who are at risk for, or who are living with, a genetic condition. While many genetic counselors practice genetic counseling clinically, others work in public health, education, research, and commercial settings, including commercial laboratories. Clinically practicing genetic counselors in the United States are masters trained and board certified by the American Board of Genetic Counseling. Evaluations of genetic counseling have been primarily outcome focused and fewer studies have examined communication processes and strategies within counseling sessions. Recent rapid advancements in genetic technologies have led to proposals and implementation of alternate service delivery models. Assessing general communication processes and outcomes, and those supported by these alternative delivery models and digital platforms, is necessary work to identify which of these models is appropriate, or at least as effective as usual care.

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What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling

Cited by 15 publications

References 46 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

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

Genetic Counseling

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