Determining priority indicators of utility for genomic testing in rare disease: A Delphi study

Area of Science:

• Genomics
• Rare Diseases
• Health Technology Assessment

Background:

• Assessing the value of genomic testing in rare diseases is complex.
• Current evaluations often focus narrowly on diagnostic yield, neglecting broader utility aspects.
• Lack of consensus hinders standardized value assessment.

Purpose of the Study:

• To identify and prioritize key indicators of utility for genomic testing in rare diseases using expert consensus.
• To move beyond diagnostic yield and establish a comprehensive framework for genomic utility.
• To refine priority indicators for assessing the value of genomic testing in rare disease contexts.

Main Methods:

• Utilized a two-round Delphi methodology involving Australian experts from policy, clinical, research, and consumer advocacy.
• Collected and analyzed both quantitative and qualitative data to achieve consensus on utility indicators.
• Involved 25 experts in round 1 and 18 experts completing both rounds.

Main Results:

• Twenty priority indicators for value assessment reached consensus among experts.
• Key indicators included prognostic information, timeliness of results, health care outcomes, and clinical accreditation.
• Indicators related to discovery research and secondary factors were deemed lower priority.

Conclusions:

• Expert consensus was achieved on priority utility indicators for genomic testing in rare diseases in Australia.
• These indicators can inform standardized evidence generation and assessment for future research and implementation.
• A broader conceptualization of genomic utility is crucial for rare disease genomic testing value assessment.