Evidence map›Paper›PMID 40580369›Full record

ArticleThe patient2025

Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.

Rebecca Purvis, Natalie Taylor, Paul James, Mary-Anne Young, Laura E Forrest

Abstract read
In one paragraph

Article in The patient, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Rebecca PurvisSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 3000, Australia.
Natalie TaylorSchool of Population Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Paul JamesSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 3000, Australia.
Mary-Anne YoungClinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Laura E ForrestSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 3000, Australia. laura.forrest@unimelb.edu.au.ORCID 0000-0002-1126-4971

Funding

Peter MacCallum Foundation Lester Peters Scholarship
6 · The paper itself

Abstract

backgroundPolygenic scores (PGS) capture a proportion of the genomic liability for cancer in unselected and high-risk cohorts, with meaningful application in improving risk-stratified screening and management. However, there are significant evidence gaps regarding future clinical implementation. Despite being key interest-holders, recipient views are underrepresented. The objective of this study was to explore recipients' views on the clinical implementation of PGS for hereditary cancer risk assessment in Australian cancer genetics clinics.

methodsThree video-conferenced focus groups were conducted with recipients who had been given their breast and ovarian cancer PGS through the PRiMo trial. Nominal Group Technique was used to enable evaluation of implementation determinants and strategies, and priority setting. Descriptive and deductive content analyses were conducted utilising the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation of facilitative strategies.

resultsParticipants (N = 10) were female, with an average age of 36 years (range 18-70 years). Of these, 50% (N = 5) experienced a change in their hereditary cancer risk assessment due to their PGS. Participants prioritised the positive value and impact of PGS, and the behavioural characteristics of recipients, notably their knowledge and expectations of PGS and cancer genetics clinics, as major determinants of implementation success. Implementation strategies that prepared and supported recipients to access, engage, and use PGS were emphasised, with a focus on a clear results report, educational resources, in-clinic resources, and delivery of ongoing good clinical follow-up.

conclusionEvidence-based strategies should be deployed to address recipients' priority barriers to the clinical implementation of PGS for hereditary cancer risk assessment. Centralising recipient voices in implementation design will improve effectiveness and success.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseGenetic TestingMultifactorial InheritanceOvarian NeoplasmsAdolescentAdultAgedAustraliaFemaleFocus GroupsGenetic CounselingHumansMiddle AgedRisk AssessmentYoung Adult

Identifiers

PMID40580369
PMCPMC12559137

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.