A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice

Advances in genomic sequencing (GS) have transformed personalised treatment strategies for genetic diseases across a diverse array of clinical indications, resulting in notable public health progress. However, limited evidence on the broader psychosocial and economic impacts hinders its widespread adoption in healthcare systems. The launch of genome projects offers an opportunity to address the unmet needs of a wide range of genetic diseases. This Perspective examines the multi-dimensional effectiveness of GS and summarises indicators and measurement tools for psychosocial and economic outcomes. It highlights priority areas identified by the Clinical Sequencing Exploratory Research Consortium. Drawing on initiatives such as the Genomics England 100,000 Genomes Project and Australian Genomics initiative, this article showcases best practices in selecting outcome measures for assessing the effectiveness of GS in policy and practice. This Perspective intends to equip future studies with a strategic and sustainable approach for outcome-oriented research within genome projects, facilitating evidence-based clinical implementation of GS in an appropriate, equitable and efficient manner. Chung et al. examine the multi-dimensional effectiveness of genome sequencing and summarise indicators and measurement tools for psychosocial and economic outcomes. They highlight priority areas for outcome-oriented research and showcase best practices in selecting outcome measures for effective implementation within genome projects.

• Publication year

  2025

• Venue

  Communications Medicine

• Publication date

  2025-05-27

• Fields of study

  Medicine, Economics, Psychology

• Identifiers
  DOI 10.1038/s43856-025-00917-4PMID 40425802PMCID 12117056
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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