Counseling for personal health implications identified during reproductive genetic carrier screening

2021 ◽  
Author(s):  
Samantha Gbur ◽  
Logan Mauney ◽  
Kathryn J. Gray ◽  
Louise Wilkins‐Haug ◽  
Stephanie Guseh
Keyword(s):  
Carrier Screening ◽  
Personal Health ◽  
Health Implications ◽  
Genetic Carrier Screening

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

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ebony Richardson ◽  
Alison McEwen ◽  
Toby Newton-John ◽  
Karine Manera ◽  
Chris Jacobs
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
Core Outcome Set ◽  
Carrier Screening ◽  
Core Outcome ◽  
The Core ◽  
Key Stakeholders ◽  
Outcome Set ◽  
Methods Of Measurement ◽  
Genetic Carrier Screening

Abstract 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.

Genetic carrier screening for disorders included in newborn screening in the Saudi population

2021 ◽  
pp. 1
Author(s):  
Mariam Eissa ◽  
Taghrid Aloraini ◽  
Lamia Alsubaie ◽  
Abdulrahman Alswaid ◽  
Wafaa Eyiad ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Carrier Screening ◽  
Saudi Population ◽  
Genetic Carrier Screening

scholarly journals Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition

2020 ◽  
Vol 63 (12) ◽  
pp. 104075
Author(s):  
Lauren A. Thomas ◽  
Sharon Lewis ◽  
John Massie ◽  
Edwin P. Kirk ◽  
Alison D. Archibald ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Genetic Condition ◽  
Genetic Carrier Screening

scholarly journals Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

2019 ◽  
Vol 36 (4) ◽  
pp. 709-716 ◽  
Author(s):  
Nigel Pereira ◽  
Michelle Wood ◽  
Emerly Luong ◽  
Allison Briggs ◽  
Michael Galloway ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Carrier Screening ◽  
Current Survey ◽  
A Current ◽  
Genetic Carrier Screening

scholarly journals Swedish parents’ interest in preconception genetic carrier screening

2016 ◽  
Vol 121 (4) ◽  
pp. 289-294 ◽  
Author(s):  
Maria Ekstrand Ragnar ◽  
Tanja Tydén ◽  
Ulrik Kihlbom ◽  
Margareta Larsson
Keyword(s):  
Carrier Screening ◽  
Genetic Carrier Screening
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