The current state of genetic risk models for the development of kidney cancer: a review and validation

Harrison, Hannah; Li, Nicole; Saunders, Catherine L.; Rossi, Sabrina; Dennis, Joe; Griffin, Simon J.; Stewart, Grant D.; Usher‐Smith, Juliet A.

doi:10.1111/bju.15752

Cited by 8 publications

(5 citation statements)

References 58 publications

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“…The performance of the models is consistent with that found for models predicting the risk of developing other cancers in earlier systematic reviews for kidney cancer [49], breast cancer [50] and colorectal cancer [51]. Similarly to kidney cancer [52], there has been very limited development of PRS for oral cancer, with the only two models identified in this review (both developed by Fritsche et al [44]) including a PRS. However, the studies by Chung (2017) et al [44], which incorporate small numbers of SNPs examining the interaction between genetics and smoking behaviour, have shown promising results.…”

Section: Key Findingssupporting

confidence: 83%

Risk Prediction Models for Oral Cancer: A Systematic Review

Espressivo,

Pan,

Usher-Smith

et al. 2024

Cancers

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In the last 30 years, there has been an increasing incidence of oral cancer worldwide. Earlier detection of oral cancer has been shown to improve survival rates. However, given the relatively low prevalence of this disease, population-wide screening is likely to be inefficient. Risk prediction models could be used to target screening to those at highest risk or to select individuals for preventative interventions. This review (a) systematically identified published models that predict the development of oral cancer and are suitable for use in the general population and (b) described and compared the identified models, focusing on their development, including risk factors, performance and applicability to risk-stratified screening. A search was carried out in November 2022 in the Medline, Embase and Cochrane Library databases to identify primary research papers that report the development or validation of models predicting the risk of developing oral cancer (cancers of the oral cavity or oropharynx). The PROBAST tool was used to evaluate the risk of bias in the identified studies and the applicability of the models they describe. The search identified 11,222 articles, of which 14 studies (describing 23 models), satisfied the eligibility criteria of this review. The most commonly included risk factors were age (n = 20), alcohol consumption (n = 18) and smoking (n = 17). Six of the included models incorporated genetic information and three used biomarkers as predictors. Including information on human papillomavirus status was shown to improve model performance; however, this was only included in a small number of models. Most of the identified models (n = 13) showed good or excellent discrimination (AUROC > 0.7). Only fourteen models had been validated and only two of these validations were carried out in populations distinct from the model development population (external validation). Conclusions: Several risk prediction models have been identified that could be used to identify individuals at the highest risk of oral cancer within the context of screening programmes. However, external validation of these models in the target population is required, and, subsequently, an assessment of the feasibility of implementation with a risk-stratified screening programme for oral cancer.

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Section: Key Findingssupporting

confidence: 83%

Risk Prediction Models for Oral Cancer: A Systematic Review

Espressivo,

Pan,

Usher-Smith

et al. 2024

Cancers

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“…We restricted the search date from 1 January 2010 to 31 November 2021 in response to preliminary searches and to ensure contemporary views of the public in relation to risk‐stratified screening, considering advances in genomics and risk prediction modelling over the past decade. 15 , 16 …”

Section: Methodsmentioning

confidence: 99%

“…We searched MEDLINE, Embase, Web of Science and PsycINFO electronic databases using title and abstract search terms and MeSH terms (the full search strategy is presented in Supporting Information: Table ). We restricted the search date from 1 January 2010 to 31 November 2021 in response to preliminary searches and to ensure contemporary views of the public in relation to risk‐stratified screening, considering advances in genomics and risk prediction modelling over the past decade 15,16 …”

Section: Methodsmentioning

confidence: 99%

Acceptability of risk stratification within population‐based cancer screening from the perspective of the general public: A mixed‐methods systematic review

Taylor

Hutchinson

Law

et al. 2023

Health Expectations

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Introduction: Risk-stratified cancer screening has the potential to improve resource allocation and the balance of harms and benefits by targeting those most likely to benefit. Public acceptability has implications for engagement, uptake and the success of such a programme. Therefore, this review seeks to understand whether risk stratification of population-based cancer screening programmes is acceptable to the general public and in what context.Methods: Four electronic databases were searched from January 2010 to November 2021. Qualitative, quantitative and mixed-methods papers were eligible for inclusion. The Joanna Briggs Institute convergent integrated approach was used to synthesize the findings and the quality of included literature was assessed using the Mixed Methods Appraisal Tool. The Theoretical Framework of Acceptability was used as a coding frame for thematic analysis. PROSPERO record 2021 CRD42021286667. Results:The search returned 12,039 citations, 22 of which were eligible for inclusion. The majority of studies related to breast cancer screening; other cancer types included ovarian, kidney, colorectal and prostate cancer. Risk stratification was generally acceptable to the public, who considered it to be logical and of wider benefit than existing screening practices. We identified 10 priorities for implementation across four key areas: addressing public information needs; understanding communication preferences for risk estimates; mitigating barriers to accessibility to avoid exacerbating inequalities; and the role of healthcare professionals in relation to supporting reduced screening for low-risk individuals.

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“…We performed an electronic literature search of MEDLINE, Embase, Web of Science and Psy-cINFO from the 1 st of January 2010 to the 31 st of November 2021 using a combination of title and abstract search terms and MeSH terms including 'risk stratification', 'cancer', 'screening', 'acceptability' and related synonyms (see S1 Table for the full search strategy). The date was restricted based on the results of preliminary searches and in order to capture contemporary views towards risk-stratified cancer screening due to the advances made in identifying and sequencing genetic variants and their use in cancer risk prediction modelling [14,15].…”

Section: Search Strategymentioning

confidence: 99%

Acceptability of risk stratification within population-based cancer screening from the perspective of healthcare professionals: A mixed methods systematic review and recommendations to support implementation

et al. 2023

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Background Introduction of risk stratification within population-based cancer screening programmes has the potential to optimise resource allocation by targeting screening towards members of the population who will benefit from it most. Endorsement from healthcare professionals is necessary to facilitate successful development and implementation of risk-stratified interventions. Therefore, this review aims to explore whether using risk stratification within population-based cancer screening programmes is acceptable to healthcare professionals and to identify any requirements for successful implementation. Methods We searched four electronic databases from January 2010 to October 2021 for quantitative, qualitative, or primary mixed methods studies reporting healthcare professional and/or other stakeholder opinions on acceptability of risk-stratified population-based cancer screening. Quality of the included studies was assessed using the Mixed Methods Appraisal Tool. Data were analysed using the Joanna Briggs Institute convergent integrated approach to mixed methods analysis and mapped onto the Consolidated Framework for Implementation Research using a ‘best fit’ approach. PROSPERO record CRD42021286667. Results A total of 12,039 papers were identified through the literature search and seven papers were included in the review, six in the context of breast cancer screening and one considering screening for ovarian cancer. Risk stratification was broadly considered acceptable, with the findings covering all five domains of the framework: intervention characteristics, outer setting, inner setting, characteristics of individuals, and process. Across these five domains, key areas that were identified as needing further consideration to support implementation were: a need for greater evidence, particularly for de-intensifying screening; resource limitations; need for staff training and clear communication; and the importance of public involvement. Conclusions Risk stratification of population-based cancer screening programmes is largely acceptable to healthcare professionals, but support and training will be required to successfully facilitate implementation. Future research should focus on strengthening the evidence base for risk stratification, particularly in relation to reducing screening frequency among low-risk cohorts and the acceptability of this approach across different cancer types.

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The current state of genetic risk models for the development of kidney cancer: a review and validation

Cited by 8 publications

References 58 publications

Risk Prediction Models for Oral Cancer: A Systematic Review

Risk Prediction Models for Oral Cancer: A Systematic Review

Acceptability of risk stratification within population‐based cancer screening from the perspective of the general public: A mixed‐methods systematic review

Acceptability of risk stratification within population-based cancer screening from the perspective of healthcare professionals: A mixed methods systematic review and recommendations to support implementation

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