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

Area of Science:

• Genetics
• Reproductive Health
• Medical Research Methodology

Background:

• Reproductive genetic carrier screening is a genetic test for prospective parents to assess risks of severe genetic conditions in offspring.
• Current research on this screening suffers from inconsistent outcome measures, hindering study quality and comparability.
• Standardizing outcomes is crucial as reproductive genetic carrier screening becomes more accessible.

Purpose of the Study:

• To develop a core outcome set for reproductive genetic carrier screening.
• To address outcome heterogeneity in research and practice related to this genetic testing.
• To standardize outcome reporting for improved evidence generation.

Main Methods:

• Systematic reviews of quantitative and qualitative studies to identify reported outcomes and patient perspectives.
• Semi-structured interviews and focus groups with patients who have undergone screening.
• Delphi surveys and consensus meetings with diverse stakeholders (patients, clinicians, researchers).

Main Results:

• The study protocol outlines a comprehensive five-step process for developing a core outcome set.
• This process involves systematic reviews, patient engagement, and multi-stakeholder consensus.
• The resulting core outcome set will standardize outcome measurement in reproductive genetic carrier screening.

Conclusions:

• The developed core outcome set will standardize outcome reporting in reproductive genetic carrier screening research.
• This initiative will enhance the quality and comparability of studies evaluating genetic testing interventions.
• The findings will inform policy and decision-making regarding the offer of reproductive genetic carrier screening.