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Cancers
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Interventions Facilitating Patient-Mediated or Provider-Mediated Cancer Predisposition Cascade Genetic Screening
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Interventions Facilitating Patient-Mediated or Provider-Mediated Cancer Predisposition Cascade Genetic Screening

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 2901

Special Issue Editor

Prof. Dr. Maria C. Katapodi

E-Mail Website
Guest Editor
1. Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland
2. Robert Wood Johnson Foundation Fellow, Princeton, NJ, USA
Interests: cancer prevention and control; web-based and family-focused interventions for hereditary cancer syndromes; cancer predisposition cascade genetic testing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In many countries around the world, privacy laws for the protection of information regarding genetic testing dictate that the communication of test results and predisposition to hereditary cancer syndromes (i.e., HBOC and Lynch syndrome) are initiated by the person identified with the pathogenic variant (patient-mediated contact) and not from the medical clinic (provider-mediated contact). An essentially medical task, i.e., communication of cancer risk and possible testing, relies on carriers of pathogenic variants as primary communicators with their at-risk relatives. This strategy has significant limitations in both ensuring contact with the appropriate people and the transmission of accurate information and hinders the potential for cancer predisposition cascade genetic testing.

A recent meta-analysis synthesized a growing body of literature suggesting that provider-mediated contact of relatives is significantly more successful than patient-mediated contact. However, a shift in the care delivery paradigm needs to be supported by evidence and/or arguments for (1) the acceptability of this approach among patients and clinicians; (2) the conditions under which a provider-mediated approach would not conflict with privacy laws; and (3) the feasibility of necessary changes in infrastructure. Technology could play a significant role in overcoming some of these obstacles.

This Special Issue of Cancers provides an opportunity to describe recent and original research and/or reviews regarding patient-mediated or provider-mediated cancer predisposition cascade genetic screening. We are particularly interested in the development or application of new platforms, and in different and innovative approaches that access genetic services and cascade genetic screening. If you would like to discuss an idea for a paper before committing, please contact the Guest Editor or the Editorial Office.

Prof. Dr. Maria C. Katapodi
Guest Editor

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. Cancers is an international peer-reviewed open access semimonthly 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 2900 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

  • access to genetic services
  • cascade genetic testing
  • direct contact to relatives
  • family communication
  • genetic counseling
  • telegenetics

Published Papers (3 papers)

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Research

13 pages, 988 KiB  
Article
National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families—The Danish Model
by Lars Joachim Lindberg, Karin A. W. Wadt, Christina Therkildsen and Helle Vendel Petersen
Cancers 2024, 16(8), 1577; https://doi.org/10.3390/cancers16081577 - 20 Apr 2024
Viewed by 367
Abstract
Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders within families result in low uptake of genetic testing. Provider-mediated interventions may increase uptake but raise legal and ethical concerns. We describe 30 [...] Read more.
Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders within families result in low uptake of genetic testing. Provider-mediated interventions may increase uptake but raise legal and ethical concerns. We describe 30 years of national experience with cascade genetic testing combining family- and provider-mediated contact in Lynch syndrome families in the Danish Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Register. We aimed to estimate the added value of information letters to family members in Lynch syndrome families (provider-mediated contact) compared to family members not receiving such letters and thus relying on family-mediated contact. National clinical practice for cascade genetic testing, encompassing infrastructure, legislation, acceptance, and management of the information letters, is also discussed. Cascade genetic testing resulted in 7.3 additional tests per family. Uptake of genetic testing was 54.4% after family-mediated and 64.9% after provider-mediated contact, corresponding to an odds ratio of 1.8 (p < 0.001). The uptake of genetic testing was highest in the first year after diagnosis of Lynch syndrome in the family, with 72.5% tested after provider-mediated contact. In conclusion, the Danish model combining family- and provider-mediated contact can increase the effect of cascade genetic testing. Full article
(This article belongs to the Special Issue Interventions Facilitating Patient-Mediated or Provider-Mediated Cancer Predisposition Cascade Genetic Screening)
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12 pages, 1809 KiB  
Article
Real-World Data on Institutional Implementation of Screening for Mismatch Repair Deficiency and Lynch Syndrome in Endometrial Cancer Patients
by Carmen Joder, Andrea Gmür, Wiebke Solass, Lucine Christe, Manuela Rabaglio, Muriel Fluri, Tilman T. Rau, Flurina A. M. Saner, Laura Knabben, Sara Imboden, Michael D. Mueller and Franziska Siegenthaler
Cancers 2024, 16(3), 671; https://doi.org/10.3390/cancers16030671 - 04 Feb 2024
Viewed by 994
Abstract
Lynch syndrome is an inherited tumor syndrome caused by a pathogenic germline variant in DNA mismatch repair genes. As the leading cause of hereditary endometrial cancer, international guidelines recommend universal screening in women with endometrial cancer. However, testing for Lynch syndrome is not [...] Read more.
Lynch syndrome is an inherited tumor syndrome caused by a pathogenic germline variant in DNA mismatch repair genes. As the leading cause of hereditary endometrial cancer, international guidelines recommend universal screening in women with endometrial cancer. However, testing for Lynch syndrome is not yet well established in clinical practice. The aim of this study was to evaluate adherence to our Lynch syndrome screening algorithm. A retrospective, single-center cohort study was conducted of all endometrial cancer patients undergoing surgical treatment at the Bern University Hospital, Switzerland, between 2017 and 2022. Adherence to immunohistochemical analysis of mismatch repair status, and, if indicated, to MLH1 promoter hypermethylation and to genetic counseling and testing was assessed. Of all 331 endometrial cancer patients, 102 (30.8%) were mismatch repair-deficient and 3 (0.9%) patients were diagnosed with Lynch syndrome. Overall screening adherence was 78.2%, with a notable improvement over the six years from 61.4% to 90.6%. A major reason for non-adherence was lack of provider recommendation for testing, with advanced patient age as a potential patient risk factor. Simplification of the algorithm through standardized reflex screening was recommended to provide optimal medical care for those affected and to allow for cascading testing of at-risk relatives. Full article
(This article belongs to the Special Issue Interventions Facilitating Patient-Mediated or Provider-Mediated Cancer Predisposition Cascade Genetic Screening)
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16 pages, 1181 KiB  
Article
Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing
by Vasiliki Baroutsou, Vu Duong, Alice Signorini, Ramon Saccilotto, Florina M. Ciorba, Nicole Bürki, Maria Caiata-Zufferey, Jai Min Ryu, Sung-Won Kim, Myong Cheol Lim, Christian Monnerat, Ursina Zürrer-Härdi, Jisun Kim, Karl Heinimann, Rossella Graffeo, Ji Soo Park, Manuela Rabaglio, Pierre Olivier Chappuis, Sue Kim, Maria C. Katapodi and on behalf of the CASCADE and K-CASCADE Consortiaadd Show full author list remove Hide full author list
Cancers 2023, 15(18), 4485; https://doi.org/10.3390/cancers15184485 - 09 Sep 2023
Viewed by 1129
Abstract
The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first [...] Read more.
The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women with BRCA1/BRCA2 pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboring BRCA1/BRCA2 pathogenic variants tested the acceptability and usability of the intervention using “think-aloud” interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial. Full article
(This article belongs to the Special Issue Interventions Facilitating Patient-Mediated or Provider-Mediated Cancer Predisposition Cascade Genetic Screening)
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