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Risk-stratified Cancer Screening
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Risk-stratified Cancer Screening

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: closed (31 January 2019) | Viewed by 22265

Special Issue Editors

Dr. Nora Pashayan

E-Mail Website
Guest Editor
Department of Applied Health Research, University College London, London, UK
Interests: risk-stratified screening; overdiagnosis; cost-effectiveness; implementation; public health genomics; education and training; breast cancer; prostate cancer; population health
Prof. Dr. Hermann Nabi

E-Mail Website
Guest Editor
Department of Social and Preventive Medcine, Faculty of Medicine, Laval University, Québec, QC G1V 0A6, Canada
Interests: precision medicine; oncology; genetic testing; implementation science; pharmacoepidemiology; genomics innovations
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues

There are inter-individual variations in the risk of developing cancer and in the potential to benefit from cancer screening. These variations could inform early detection strategies (such as whom and how often to screen) in a way to improve the efficiency of cancer screening programmes and reduce the harm of overdiagnosis and overtreatment. This could be achieved by shifting from one-size-fits all to more risk-stratified screening approach. The implementation of risk-stratifed cancer screening approaches raises a number of technical, organisational, ethical, legal, and social challenges that need to be addressed to realise the full potential of risk-stratified screening.

We are inviting submission of original articles to a Special Issue of the Journal of Personalized Medicine that covers the whole spectrum of risk-stratified cancer screening—from risk assessment to generating the evidence on effectiveness and cost-effectiveness, on the ways to communicate risk, to gain the public trust, to prepare and train the workforce, to assess healthcare organisational readiness, and to develop pilot models of implementation and the evaluation of outcomes.

Dr. Nora Pashayan
Dr. Hermann Nabi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Risk prediction test
  • Polygenic risk score 
  • Genetic mutations 
  • Epigenetic markers 
  • Prevention 
  • Risk stratified screening, precision screening 
  • Cancer 
  • Cost-effectiveness 
  • Benefit-harm trade offs 
  • Acceptability 
  • Communication 
  • Behavioural change 
  • Workforce training 
  • ELSI 
  • Healthcare organization 
  • Electronic health records 
  • Big data 
  • Implementation 
  • Outcome research 
  • Precision public health

Published Papers (3 papers)

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Research

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10 pages, 759 KiB  
Article
A Tool for Shared Decision Making on Referral for Prostate Biopsy in the Primary Care Setting: Integrating Risks of Cancer with Life Expectancy
by Jan F.M. Verbeek, Daan Nieboer, Chris Parker, Michael W. Kattan, Ewout W. Steyerberg and Monique J. Roobol
J. Pers. Med. 2019, 9(2), 19; https://doi.org/10.3390/jpm9020019 - 22 Apr 2019
Cited by 1 | Viewed by 6601
Abstract
Prostate cancer (PCa) testing involves a complex individually based decision making process. It should consider competing risks from other comorbidities when estimating a survival benefit from the early detection of clinically significant (cs)PCa. We aimed to develop a prediction tool that provides concrete [...] Read more.
Prostate cancer (PCa) testing involves a complex individually based decision making process. It should consider competing risks from other comorbidities when estimating a survival benefit from the early detection of clinically significant (cs)PCa. We aimed to develop a prediction tool that provides concrete advice for the general practitioner (GP) on whether to refer a man for further assessment. We hereto combined the probability of detecting csPCa and the potential overall survival benefit from early detection and treatment. The PCa detection probabilities were derived from 3616 men enrolled in the Dutch arm of the European Randomized Study of Screening for Prostate Cancer (ERSPC). Survival estimates were derived from 19,834 men from the Surveillance, Epidemiology, and End Results (SEER) registry, ERSPC, and Dutch life tables. Treatment benefit was estimated from the Prostate Cancer Intervention versus Observation Trial (PIVOT, n = 731). The prediction of csPCa detection was based on prostate-specific antigen (PSA), age, %freePSA, and digital rectal examination (DRE). The life expectancy (LE) for patients with PCa receiving no treatment was adjusted for age and Charlson comorbidity index. A negative impact on LE and treatment benefit was found with higher age and more comorbidity. The proposed integrated approach may support triage at GP practices, as PCa is a heterogeneous disease in predominantly elderly men. Full article
(This article belongs to the Special Issue Risk-stratified Cancer Screening)
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Review

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22 pages, 283 KiB  
Review
Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer
by Ava Willoughby, Paul R. Andreassen and Amanda Ewart Toland
J. Pers. Med. 2019, 9(1), 15; https://doi.org/10.3390/jpm9010015 - 01 Mar 2019
Cited by 24 | Viewed by 9008
Abstract
Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and [...] Read more.
Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2, for the purpose of identifying high-risk individuals who would benefit from earlier screening and more sensitive methods such as magnetic resonance imaging. We also consider risk-based screening in the general population, including whether every woman should be genetically tested for high-risk genes and the potential use of polygenic risk scores. In addition to enabling early detection, the results of genetic screens of breast cancer susceptibility genes can be utilized to guide decision-making about when to elect prophylactic surgeries that reduce cancer risk and the choice of therapeutic options. Variants of uncertain significance, especially missense variants, are being identified during panel testing for hereditary breast and ovarian cancer. A finding of a variant of uncertain significance does not provide a basis for increased cancer surveillance or prophylactic procedures. Given that variant classification is often challenging, we also consider the role of multifactorial statistical analyses by large consortia and functional tests for this purpose. Full article
(This article belongs to the Special Issue Risk-stratified Cancer Screening)
9 pages, 2045 KiB  
Review
Autonomy Challenges in Epigenetic Risk-Stratified Cancer Screening: How Can Patient Decision Aids Support Informed Consent?
by Maaike Alblas, Maartje Schermer, Yvonne Vergouwe and Ineke Bolt
J. Pers. Med. 2019, 9(1), 14; https://doi.org/10.3390/jpm9010014 - 18 Feb 2019
Cited by 7 | Viewed by 6027
Abstract
Information of an individual’s epigenome can be useful in cancer screening to enable personalised decision making on participation, treatment options and further screening strategies. However, adding this information might result in complex risk predictions on multiple diseases, unsolicited findings and information on (past) [...] Read more.
Information of an individual’s epigenome can be useful in cancer screening to enable personalised decision making on participation, treatment options and further screening strategies. However, adding this information might result in complex risk predictions on multiple diseases, unsolicited findings and information on (past) environmental exposure and behaviour. This complicates informed consent procedures and may impede autonomous decision-making. In this article we investigate and identify the specific features of epigenetic risk-stratified cancer screening that challenge the current informed consent doctrine. Subsequently we describe current and new informed consent models and the principle of respect for autonomy and argue for a specific informed consent model for epigenetic risk-stratified screening programmes. Next, we propose a framework that guides the development of Patient Decision Aids (PDAs) to support informed consent and promote autonomous choices in the specific context of epigenetic cancer screening programmes. Full article
(This article belongs to the Special Issue Risk-stratified Cancer Screening)
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