A Delphi study to prioritize genetic counseling outcomes: What matters most

Area of Science:

• Genetics
• Healthcare Research
• Patient Outcomes

Background:

• Genetic counseling outcome research lacks standardized metrics.
• Existing measures vary in quality and psychometric rigor.
• Identifying relevant outcomes and validated measures remains a challenge.

Purpose of the Study:

• To prioritize genetic counseling outcomes from diverse stakeholder perspectives.
• To identify the most important outcomes for patients and providers.
• To categorize outcomes using the FOCUS-GC framework.

Main Methods:

• An online, modified Delphi method was employed.
• Four stakeholder groups participated: counselors, researchers, training directors, and consumers.
• 181 genetic counseling outcomes were rated and categorized using the FOCUS-GC framework.

Main Results:

• The domains of Process, Patient Care Experience, and Patient Changes were rated as most important.
• No highly rated outcomes fell into Patient Health or Family Changes domains.
• Clinical genetic counselors showed the highest outcome importance overlap with consumers (61.1%).

Conclusions:

• Stakeholder consensus on genetic counseling outcome importance is achievable but complex.
• Prioritizing outcomes requires bridging clinical realities and research priorities.
• Future research should focus on aligning diverse stakeholder perspectives for better outcome measurement.