Fehlberg, Zoe, Goranitis, Ilias, Mallett, Andrew J., Stark, Zornitza, and Best, Stephanie (2024) Determining priority indicators of utility for genomic testing in rare disease: A Delphi study. Genetics in Medicine, 26 (6). 101116.

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Abstract

Purpose: Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond diagnostic yield. Despite widespread discussion, consensus toward which aspects of value to consider is lacking. This study aimed to use expert opinion to identify and refine priority indicators of utility in rare disease genomic testing.

Methods: We used 2 survey rounds following Delphi methodology to obtain consensus on indicators of utility among experts involved in policy, clinical, research, and consumer advocacy leadership in Australia. We analyzed quantitative and qualitative data to identify, define, and determine priority indicators.

Results: Twenty-five experts completed round 1 and 18 completed both rounds. Twenty indicators reached consensus as a priority in value assessment, including those relating to prognostic information, timeliness of results, practical and health care outcomes, clinical accreditation, and diagnostic yield. Whereas indicators pertaining to discovery research, disutility, and factors secondary to primary reason for testing were considered less of a priority and were removed.

Conclusion: This study obtained expert consensus on different utility indicators that are considered a priority in determining the value of genomic testing in rare disease in Australia. Indicators may inform a standardized approach to evidence generation and assessment to guide future research, decision making, and implementation efforts.

Item ID:	85857
Item Type:	Article (Research - C1)
ISSN:	1530-0366
Copyright Information:	© 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Funders:	National Health and Medical Research Council (NHMRC)
Projects and Grants:	NHMRC “Australian Genomics Grant Program Proposal 2021-23” (Grant GNT2000001)
Date Deposited:	17 Jun 2025 02:54
FoR Codes:	31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 50% 42 HEALTH SCIENCES > 4202 Epidemiology > 420202 Disease surveillance @ 50%
SEO Codes:	28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280103 Expanding knowledge in the biomedical and clinical sciences @ 100%
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