Positive patient-readiness to receive genetic risk information for keratinocyte cancer ​risk stratification among ultra-high risk organ transplant recipients

April 14, 2023

Abstract

Introduction:
Organ transplant recipients (OTRs) have an elevated risk of developing keratinocyte cancer (KC). We have previously shown that a KC polygenic risk score (PRS) effectively triages OTRs for KC risk, with 50% of transplantees with high genetic risk developing KC within 3 years of follow up. However, readiness for clinical application of the KC PRS, its application to triage OTRs in the clinic and the return of the genetic risk information have not yet been assessed.

Objectives:
1) To evaluate patients’ readiness to receive genetic risk information for KC risk stratification in a lung transplant clinic. 2) To assess whether returning the PRS results to patients influences skin cancer screening, incidence, and sun protection behavior.

Methods:
We recruited 100 lung transplantees from the Prince Charles Hospital in Queensland into the ASCOT prospective study. We assessed their attitude, knowledge, and perceptions of genetic testing for KC risk stratification. We also collected genetic data. We developed a KC risk stratification pipeline, and triaged the transplantees. PRS results and KC prevention advice were returned to the high risk group. All transplantees are being followed-up for sun protection and screening behaviors, and skin cancer outcomes.

Results:
50% of OTRs were highly likely to accept genetic testing for KC risk stratification. Following transplantation, there was a drastic change in the perception of KC risk and severity, and the majority of transplantees considered it a major health concern. Using the PRS pipeline, 40 patients were triaged into the high risk category for KC, and received their PRS results and health advice, and we are prospectively assessing whether this will influence skin cancer screening rates, skin cancer incidence, and sun protection behavior in this group. Findings will be shared.

Conclusion:
There is positive patient-readiness to receive genetic risk information for KC risk stratification among transplantees. High-risk patients are currently being followed-up for KC outcomes and prevention service uptake including screening, and sun protection behaviors.

Source:

Mathias Seviiri, Matthew H. Law, Peter Hopkins, Catherine M. Olsen, David C. Whiteman, Stuart MacGregor. Clinical implications for returning polygenic risk information for skin cancer to ultra-high risk organ transplant recipients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 781.

https://aacrjournals.org/cance...



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