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

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

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