Clinical genomic testing: what matters to key stakeholders?

Area of Science:

• Genomic Medicine
• Health Services Research
• Stakeholder Engagement

Background:

• Robust evidence on the perceived value of genomic medicine beyond cost and outcomes is limited.
• Genomic testing is increasingly integrated into various healthcare settings.

Purpose of the Study:

• To explore and understand stakeholder-defined value in genomic medicine across different testing contexts.
• To identify commonalities and differences in valued characteristics of genomic testing.

Main Methods:

• A multiphase mixed-methods study involving iterative focus groups with diverse stakeholders.
• Quantitative ratings and qualitative discussions were used to generate and rank characteristics of genomic testing.
• Three testing contexts were examined: General Healthcare, Acute Care, and Neurodevelopmental Conditions.

Main Results:

• The likelihood of obtaining a definitive answer from genomic testing was consistently the most valued characteristic.
• The potential for the test to influence clinical management or wellbeing was also highly valued.
• The risk of discrimination was generally not highly valued, and cost was less valued in acute and neurodevelopmental settings.

Conclusions:

• Co-producing an understanding of value in genomic medicine is essential for maximizing value provision.
• Identifying shared and distinct values across different testing contexts can inform policy and service development.
• Ensuring clinical genomic services meet community and provider needs requires a focus on valued characteristics beyond cost.